Incidental Mutation 'R5387:Tle3'
| ID |
425337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle3
|
| Ensembl Gene |
ENSMUSG00000032280 |
| Gene Name |
transducin-like enhancer of split 3 |
| Synonyms |
2610103N05Rik, ESG, Grg3a, Grg3b |
| MMRRC Submission |
042959-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61279648-61325779 bp(+) (GRCm39) |
| Type of Mutation |
splice site (16 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 61314771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034820]
[ENSMUST00000034820]
[ENSMUST00000159050]
[ENSMUST00000159050]
[ENSMUST00000159386]
[ENSMUST00000159386]
[ENSMUST00000159630]
[ENSMUST00000159630]
[ENSMUST00000160724]
[ENSMUST00000160882]
[ENSMUST00000160882]
[ENSMUST00000161207]
[ENSMUST00000161207]
[ENSMUST00000161689]
[ENSMUST00000161689]
[ENSMUST00000161993]
[ENSMUST00000161993]
[ENSMUST00000162127]
[ENSMUST00000162127]
[ENSMUST00000162583]
[ENSMUST00000162583]
[ENSMUST00000162973]
[ENSMUST00000162973]
[ENSMUST00000178113]
[ENSMUST00000178113]
|
| AlphaFold |
Q08122 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034820
|
| SMART Domains |
Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
4.3e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
468 |
505 |
2.96e-2 |
SMART |
|
WD40
|
511 |
552 |
4.48e-2 |
SMART |
|
WD40
|
557 |
596 |
2.84e-4 |
SMART |
|
WD40
|
599 |
638 |
7.55e-9 |
SMART |
|
WD40
|
641 |
679 |
3.07e1 |
SMART |
|
WD40
|
681 |
720 |
4.18e-2 |
SMART |
|
WD40
|
721 |
761 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000034820
|
| SMART Domains |
Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
4.3e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
468 |
505 |
2.96e-2 |
SMART |
|
WD40
|
511 |
552 |
4.48e-2 |
SMART |
|
WD40
|
557 |
596 |
2.84e-4 |
SMART |
|
WD40
|
599 |
638 |
7.55e-9 |
SMART |
|
WD40
|
641 |
679 |
3.07e1 |
SMART |
|
WD40
|
681 |
720 |
4.18e-2 |
SMART |
|
WD40
|
721 |
761 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159050
|
| SMART Domains |
Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
471 |
508 |
2.96e-2 |
SMART |
|
WD40
|
514 |
555 |
4.48e-2 |
SMART |
|
WD40
|
560 |
599 |
2.84e-4 |
SMART |
|
WD40
|
602 |
641 |
7.55e-9 |
SMART |
|
WD40
|
644 |
682 |
3.07e1 |
SMART |
|
WD40
|
684 |
723 |
4.18e-2 |
SMART |
|
WD40
|
724 |
764 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159050
|
| SMART Domains |
Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
471 |
508 |
2.96e-2 |
SMART |
|
WD40
|
514 |
555 |
4.48e-2 |
SMART |
|
WD40
|
560 |
599 |
2.84e-4 |
SMART |
|
WD40
|
602 |
641 |
7.55e-9 |
SMART |
|
WD40
|
644 |
682 |
3.07e1 |
SMART |
|
WD40
|
684 |
723 |
4.18e-2 |
SMART |
|
WD40
|
724 |
764 |
1.79e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159140
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159386
|
| SMART Domains |
Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
464 |
501 |
2.96e-2 |
SMART |
|
WD40
|
507 |
548 |
4.48e-2 |
SMART |
|
WD40
|
553 |
592 |
2.84e-4 |
SMART |
|
WD40
|
595 |
634 |
7.55e-9 |
SMART |
|
WD40
|
637 |
675 |
3.07e1 |
SMART |
|
WD40
|
677 |
716 |
4.18e-2 |
SMART |
|
WD40
|
717 |
757 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159386
|
| SMART Domains |
Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
2.1e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
464 |
501 |
2.96e-2 |
SMART |
|
WD40
|
507 |
548 |
4.48e-2 |
SMART |
|
WD40
|
553 |
592 |
2.84e-4 |
SMART |
|
WD40
|
595 |
634 |
7.55e-9 |
SMART |
|
WD40
|
637 |
675 |
3.07e1 |
SMART |
|
WD40
|
677 |
716 |
4.18e-2 |
SMART |
|
WD40
|
717 |
757 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159630
|
| SMART Domains |
Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
79 |
1.7e-43 |
PFAM |
|
low complexity region
|
104 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
245 |
N/A |
INTRINSIC |
|
WD40
|
416 |
453 |
2.96e-2 |
SMART |
|
WD40
|
459 |
500 |
4.48e-2 |
SMART |
|
WD40
|
505 |
544 |
2.84e-4 |
SMART |
|
WD40
|
547 |
586 |
7.55e-9 |
SMART |
|
WD40
|
589 |
627 |
3.07e1 |
SMART |
|
WD40
|
629 |
668 |
4.18e-2 |
SMART |
|
WD40
|
669 |
709 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159630
|
| SMART Domains |
Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
79 |
1.7e-43 |
PFAM |
|
low complexity region
|
104 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
245 |
N/A |
INTRINSIC |
|
WD40
|
416 |
453 |
2.96e-2 |
SMART |
|
WD40
|
459 |
500 |
4.48e-2 |
SMART |
|
WD40
|
505 |
544 |
2.84e-4 |
SMART |
|
WD40
|
547 |
586 |
7.55e-9 |
SMART |
|
WD40
|
589 |
627 |
3.07e1 |
SMART |
|
WD40
|
629 |
668 |
4.18e-2 |
SMART |
|
WD40
|
669 |
709 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160724
|
| SMART Domains |
Protein: ENSMUSP00000124055
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
145 |
1.9e-77 |
PFAM |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160882
|
| SMART Domains |
Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
146 |
4.8e-76 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
312 |
N/A |
INTRINSIC |
|
WD40
|
486 |
523 |
2.96e-2 |
SMART |
|
WD40
|
529 |
570 |
4.48e-2 |
SMART |
|
WD40
|
575 |
614 |
2.84e-4 |
SMART |
|
WD40
|
617 |
656 |
7.55e-9 |
SMART |
|
WD40
|
659 |
697 |
3.07e1 |
SMART |
|
WD40
|
699 |
738 |
4.18e-2 |
SMART |
|
WD40
|
739 |
779 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160882
|
| SMART Domains |
Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
146 |
4.8e-76 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
312 |
N/A |
INTRINSIC |
|
WD40
|
486 |
523 |
2.96e-2 |
SMART |
|
WD40
|
529 |
570 |
4.48e-2 |
SMART |
|
WD40
|
575 |
614 |
2.84e-4 |
SMART |
|
WD40
|
617 |
656 |
7.55e-9 |
SMART |
|
WD40
|
659 |
697 |
3.07e1 |
SMART |
|
WD40
|
699 |
738 |
4.18e-2 |
SMART |
|
WD40
|
739 |
779 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161207
|
| SMART Domains |
Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
129 |
1e-73 |
PFAM |
|
low complexity region
|
154 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
295 |
N/A |
INTRINSIC |
|
WD40
|
466 |
503 |
2.96e-2 |
SMART |
|
WD40
|
509 |
550 |
4.48e-2 |
SMART |
|
WD40
|
555 |
594 |
2.84e-4 |
SMART |
|
WD40
|
597 |
636 |
7.55e-9 |
SMART |
|
WD40
|
639 |
677 |
3.07e1 |
SMART |
|
WD40
|
679 |
718 |
4.18e-2 |
SMART |
|
WD40
|
719 |
759 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161207
|
| SMART Domains |
Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
129 |
1e-73 |
PFAM |
|
low complexity region
|
154 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
295 |
N/A |
INTRINSIC |
|
WD40
|
466 |
503 |
2.96e-2 |
SMART |
|
WD40
|
509 |
550 |
4.48e-2 |
SMART |
|
WD40
|
555 |
594 |
2.84e-4 |
SMART |
|
WD40
|
597 |
636 |
7.55e-9 |
SMART |
|
WD40
|
639 |
677 |
3.07e1 |
SMART |
|
WD40
|
679 |
718 |
4.18e-2 |
SMART |
|
WD40
|
719 |
759 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161689
|
| SMART Domains |
Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
80 |
4.8e-44 |
PFAM |
|
low complexity region
|
105 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
WD40
|
420 |
457 |
2.96e-2 |
SMART |
|
WD40
|
463 |
504 |
4.48e-2 |
SMART |
|
WD40
|
509 |
548 |
2.84e-4 |
SMART |
|
WD40
|
551 |
590 |
7.55e-9 |
SMART |
|
WD40
|
593 |
631 |
3.07e1 |
SMART |
|
WD40
|
633 |
672 |
4.18e-2 |
SMART |
|
WD40
|
673 |
713 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161689
|
| SMART Domains |
Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
80 |
4.8e-44 |
PFAM |
|
low complexity region
|
105 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
WD40
|
420 |
457 |
2.96e-2 |
SMART |
|
WD40
|
463 |
504 |
4.48e-2 |
SMART |
|
WD40
|
509 |
548 |
2.84e-4 |
SMART |
|
WD40
|
551 |
590 |
7.55e-9 |
SMART |
|
WD40
|
593 |
631 |
3.07e1 |
SMART |
|
WD40
|
633 |
672 |
4.18e-2 |
SMART |
|
WD40
|
673 |
713 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161993
|
| SMART Domains |
Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
135 |
2e-77 |
PFAM |
|
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161993
|
| SMART Domains |
Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
135 |
2e-77 |
PFAM |
|
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162127
|
| SMART Domains |
Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
83 |
1.2e-37 |
PFAM |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
WD40
|
406 |
443 |
2.96e-2 |
SMART |
|
WD40
|
449 |
490 |
4.48e-2 |
SMART |
|
WD40
|
495 |
534 |
2.84e-4 |
SMART |
|
WD40
|
537 |
576 |
7.55e-9 |
SMART |
|
WD40
|
579 |
617 |
3.07e1 |
SMART |
|
WD40
|
619 |
658 |
4.18e-2 |
SMART |
|
WD40
|
659 |
699 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162127
|
| SMART Domains |
Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
83 |
1.2e-37 |
PFAM |
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
WD40
|
406 |
443 |
2.96e-2 |
SMART |
|
WD40
|
449 |
490 |
4.48e-2 |
SMART |
|
WD40
|
495 |
534 |
2.84e-4 |
SMART |
|
WD40
|
537 |
576 |
7.55e-9 |
SMART |
|
WD40
|
579 |
617 |
3.07e1 |
SMART |
|
WD40
|
619 |
658 |
4.18e-2 |
SMART |
|
WD40
|
659 |
699 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162583
|
| SMART Domains |
Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
473 |
510 |
2.96e-2 |
SMART |
|
WD40
|
516 |
557 |
4.48e-2 |
SMART |
|
WD40
|
562 |
601 |
2.84e-4 |
SMART |
|
WD40
|
604 |
643 |
7.55e-9 |
SMART |
|
WD40
|
646 |
684 |
3.07e1 |
SMART |
|
WD40
|
686 |
725 |
4.18e-2 |
SMART |
|
WD40
|
726 |
766 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162583
|
| SMART Domains |
Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
473 |
510 |
2.96e-2 |
SMART |
|
WD40
|
516 |
557 |
4.48e-2 |
SMART |
|
WD40
|
562 |
601 |
2.84e-4 |
SMART |
|
WD40
|
604 |
643 |
7.55e-9 |
SMART |
|
WD40
|
646 |
684 |
3.07e1 |
SMART |
|
WD40
|
686 |
725 |
4.18e-2 |
SMART |
|
WD40
|
726 |
766 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162973
|
| SMART Domains |
Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
476 |
513 |
2.96e-2 |
SMART |
|
WD40
|
519 |
560 |
4.48e-2 |
SMART |
|
WD40
|
565 |
604 |
2.84e-4 |
SMART |
|
WD40
|
607 |
646 |
7.55e-9 |
SMART |
|
WD40
|
649 |
687 |
3.07e1 |
SMART |
|
WD40
|
689 |
728 |
4.18e-2 |
SMART |
|
WD40
|
729 |
769 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162973
|
| SMART Domains |
Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
136 |
3.9e-77 |
PFAM |
|
low complexity region
|
161 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
302 |
N/A |
INTRINSIC |
|
WD40
|
476 |
513 |
2.96e-2 |
SMART |
|
WD40
|
519 |
560 |
4.48e-2 |
SMART |
|
WD40
|
565 |
604 |
2.84e-4 |
SMART |
|
WD40
|
607 |
646 |
7.55e-9 |
SMART |
|
WD40
|
649 |
687 |
3.07e1 |
SMART |
|
WD40
|
689 |
728 |
4.18e-2 |
SMART |
|
WD40
|
729 |
769 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178113
|
| SMART Domains |
Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
143 |
6e-73 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
313 |
N/A |
INTRINSIC |
|
WD40
|
487 |
524 |
2.96e-2 |
SMART |
|
WD40
|
530 |
571 |
4.48e-2 |
SMART |
|
WD40
|
576 |
615 |
2.84e-4 |
SMART |
|
WD40
|
618 |
657 |
7.55e-9 |
SMART |
|
WD40
|
660 |
698 |
3.07e1 |
SMART |
|
WD40
|
700 |
739 |
4.18e-2 |
SMART |
|
WD40
|
740 |
780 |
1.79e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178113
|
| SMART Domains |
Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
143 |
6e-73 |
PFAM |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
313 |
N/A |
INTRINSIC |
|
WD40
|
487 |
524 |
2.96e-2 |
SMART |
|
WD40
|
530 |
571 |
4.48e-2 |
SMART |
|
WD40
|
576 |
615 |
2.84e-4 |
SMART |
|
WD40
|
618 |
657 |
7.55e-9 |
SMART |
|
WD40
|
660 |
698 |
3.07e1 |
SMART |
|
WD40
|
700 |
739 |
4.18e-2 |
SMART |
|
WD40
|
740 |
780 |
1.79e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162962
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (80/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homzoygous for a gene trap allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,408,092 (GRCm39) |
S140T |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
| Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
| Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
| Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
| Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
| Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,556 (GRCm39) |
I1021T |
probably benign |
Het |
| Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
| H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
| H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
| Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
| Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
| Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
| Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
| Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
| Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
| Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
| Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
| Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
| Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
| Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
possibly damaging |
Het |
|
| Other mutations in Tle3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Tle3
|
APN |
9 |
61,316,039 (GRCm39) |
splice site |
probably benign |
|
|
IGL00671:Tle3
|
APN |
9 |
61,319,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Tle3
|
APN |
9 |
61,317,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01684:Tle3
|
APN |
9 |
61,310,728 (GRCm39) |
intron |
probably benign |
|
|
IGL02109:Tle3
|
APN |
9 |
61,320,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02386:Tle3
|
APN |
9 |
61,301,941 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02517:Tle3
|
APN |
9 |
61,322,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Tle3
|
APN |
9 |
61,301,981 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03103:Tle3
|
APN |
9 |
61,300,524 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0391:Tle3
|
UTSW |
9 |
61,323,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Tle3
|
UTSW |
9 |
61,317,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0621:Tle3
|
UTSW |
9 |
61,317,387 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Tle3
|
UTSW |
9 |
61,321,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Tle3
|
UTSW |
9 |
61,318,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1978:Tle3
|
UTSW |
9 |
61,301,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Tle3
|
UTSW |
9 |
61,321,376 (GRCm39) |
splice site |
probably null |
|
|
R4242:Tle3
|
UTSW |
9 |
61,314,705 (GRCm39) |
missense |
probably benign |
|
|
R4587:Tle3
|
UTSW |
9 |
61,281,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Tle3
|
UTSW |
9 |
61,281,279 (GRCm39) |
unclassified |
probably benign |
|
|
R4877:Tle3
|
UTSW |
9 |
61,280,781 (GRCm39) |
intron |
probably benign |
|
|
R4913:Tle3
|
UTSW |
9 |
61,281,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5745:Tle3
|
UTSW |
9 |
61,322,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Tle3
|
UTSW |
9 |
61,314,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Tle3
|
UTSW |
9 |
61,316,190 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6000:Tle3
|
UTSW |
9 |
61,281,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Tle3
|
UTSW |
9 |
61,309,206 (GRCm39) |
splice site |
probably null |
|
|
R7210:Tle3
|
UTSW |
9 |
61,319,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Tle3
|
UTSW |
9 |
61,320,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7545:Tle3
|
UTSW |
9 |
61,301,984 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7698:Tle3
|
UTSW |
9 |
61,320,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Tle3
|
UTSW |
9 |
61,314,410 (GRCm39) |
missense |
probably benign |
|
|
R8075:Tle3
|
UTSW |
9 |
61,281,841 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8941:Tle3
|
UTSW |
9 |
61,320,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Tle3
|
UTSW |
9 |
61,319,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Tle3
|
UTSW |
9 |
61,282,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Tle3
|
UTSW |
9 |
61,319,562 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9122:Tle3
|
UTSW |
9 |
61,314,755 (GRCm39) |
unclassified |
probably benign |
|
|
R9298:Tle3
|
UTSW |
9 |
61,319,562 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCTTACTCGAATGTAATATTGCC -3'
(R):5'- CATGTAGGCTTGGGTAATGCC -3'
Sequencing Primer
(F):5'- CCTGTGTGCAGTATTATACAATCAGC -3'
(R):5'- GGTAATGCCCCTGTCCATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation