Incidental Mutation 'R4913:Tle3'
| ID |
379710 |
| 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 |
042515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4913 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
61279648-61325779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61281275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 22
(V22E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034820]
[ENSMUST00000159050]
[ENSMUST00000159386]
[ENSMUST00000159630]
[ENSMUST00000160541]
[ENSMUST00000160724]
[ENSMUST00000161207]
[ENSMUST00000162973]
[ENSMUST00000160882]
[ENSMUST00000178113]
[ENSMUST00000162583]
[ENSMUST00000161993]
[ENSMUST00000161194]
[ENSMUST00000162127]
[ENSMUST00000161689]
|
| AlphaFold |
Q08122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034820
AA Change: V22E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 |
noncoding transcript
Transcript: ENSMUST00000098658
|
| SMART Domains |
Protein: ENSMUSP00000096255
Gene: ENSMUSG00000074256
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159050
AA Change: V22E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000159386
AA Change: V22E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 benign
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 benign
Transcript: ENSMUST00000160541
|
| SMART Domains |
Protein: ENSMUSP00000124158
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
80 |
3.7e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160724
AA Change: V22E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124055
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000161207
AA Change: V15E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
AA Change: V15E
| 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 damaging
Transcript: ENSMUST00000162973
AA Change: V22E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000160882
AA Change: V22E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000178113
AA Change: V22E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000162583
AA Change: V22E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 damaging
Transcript: ENSMUST00000161993
AA Change: V22E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280
AA Change: V22E
| 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 |
noncoding transcript
Transcript: ENSMUST00000187131
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161194
|
| SMART Domains |
Protein: ENSMUSP00000125537
Gene: ENSMUSG00000032280
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
1 |
53 |
7.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,255,381 (GRCm39) |
M267K |
possibly damaging |
Het |
| Acsm5 |
T |
C |
7: 119,133,566 (GRCm39) |
S244P |
probably damaging |
Het |
| Actr6 |
A |
G |
10: 89,550,808 (GRCm39) |
F329L |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,588 (GRCm39) |
S169P |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,647,886 (GRCm39) |
G645C |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,779,480 (GRCm39) |
R1069* |
probably null |
Het |
| Akr1c6 |
T |
C |
13: 4,504,524 (GRCm39) |
I303T |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,965 (GRCm39) |
R588G |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,149,979 (GRCm39) |
|
probably null |
Het |
| Casp12 |
T |
C |
9: 5,358,726 (GRCm39) |
V318A |
probably damaging |
Het |
| Cblb |
C |
T |
16: 51,986,392 (GRCm39) |
P545L |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,896,665 (GRCm39) |
I1521F |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,473,225 (GRCm39) |
C255R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,029,601 (GRCm39) |
K154* |
probably null |
Het |
| Cd300a |
A |
T |
11: 114,784,198 (GRCm39) |
K69* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,500,568 (GRCm39) |
|
probably null |
Het |
| Clec10a |
A |
G |
11: 70,060,851 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,489,695 (GRCm39) |
I503V |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,554,292 (GRCm39) |
H304R |
probably damaging |
Het |
| Crb2 |
A |
T |
2: 37,680,257 (GRCm39) |
H395L |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,038,113 (GRCm39) |
N4257K |
probably damaging |
Het |
| Dnase2a |
G |
A |
8: 85,635,477 (GRCm39) |
D25N |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,186 (GRCm39) |
T343A |
probably benign |
Het |
| Emid1 |
G |
A |
11: 5,082,012 (GRCm39) |
T161I |
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,425,402 (GRCm39) |
|
probably null |
Het |
| Esp36 |
A |
T |
17: 38,728,055 (GRCm39) |
N75K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,746 (GRCm39) |
S573G |
possibly damaging |
Het |
| Fam149a |
T |
G |
8: 45,806,920 (GRCm39) |
S231R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,774 (GRCm39) |
E112G |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,316 (GRCm39) |
D46G |
probably benign |
Het |
| Fggy |
G |
A |
4: 95,585,313 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
T |
C |
9: 69,666,859 (GRCm39) |
M224V |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,808 (GRCm39) |
C238R |
possibly damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,730,122 (GRCm39) |
*481R |
probably null |
Het |
| H2az2 |
C |
A |
11: 6,383,750 (GRCm39) |
A57S |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,748 (GRCm39) |
I250V |
probably benign |
Het |
| Hus1 |
C |
A |
11: 8,946,856 (GRCm39) |
L280F |
probably benign |
Het |
| Ide |
A |
T |
19: 37,306,469 (GRCm39) |
H101Q |
unknown |
Het |
| Ido1 |
T |
C |
8: 25,074,533 (GRCm39) |
D279G |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,674,214 (GRCm39) |
V307A |
probably benign |
Het |
| Ipo5 |
G |
A |
14: 121,172,498 (GRCm39) |
V519I |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,891 (GRCm39) |
V239A |
probably benign |
Het |
| Lmod3 |
A |
G |
6: 97,224,125 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,393,682 (GRCm39) |
D836G |
probably damaging |
Het |
| Malt1 |
G |
T |
18: 65,609,351 (GRCm39) |
C774F |
probably damaging |
Het |
| Map2k4 |
C |
A |
11: 65,600,758 (GRCm39) |
D58Y |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,411 (GRCm39) |
N294S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,389,116 (GRCm39) |
|
probably null |
Het |
| Mybpc3 |
A |
G |
2: 90,956,609 (GRCm39) |
E637G |
possibly damaging |
Het |
| Narf |
A |
G |
11: 121,135,469 (GRCm39) |
Q107R |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,440,064 (GRCm39) |
G547D |
probably benign |
Het |
| Nucb2 |
G |
T |
7: 116,123,540 (GRCm39) |
G51* |
probably null |
Het |
| Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,913,526 (GRCm39) |
D786E |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,712,716 (GRCm39) |
T543A |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,339,513 (GRCm39) |
F584L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,704 (GRCm39) |
N266S |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,042,866 (GRCm39) |
S446* |
probably null |
Het |
| Pkp4 |
T |
G |
2: 59,135,794 (GRCm39) |
H186Q |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,460 (GRCm39) |
V205A |
probably damaging |
Het |
| Prss32 |
T |
C |
17: 24,078,157 (GRCm39) |
V281A |
probably damaging |
Het |
| Psd3 |
C |
T |
8: 68,573,821 (GRCm39) |
C120Y |
probably damaging |
Het |
| Ptcra |
A |
G |
17: 47,069,574 (GRCm39) |
L99P |
probably damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,995,026 (GRCm39) |
T855I |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,066,111 (GRCm39) |
E199G |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,216 (GRCm39) |
C580S |
probably damaging |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,302,493 (GRCm39) |
V143A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,246 (GRCm39) |
Y4431N |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,796,028 (GRCm39) |
S367T |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,589,266 (GRCm39) |
S620F |
probably benign |
Het |
| Slc12a1 |
G |
A |
2: 125,070,670 (GRCm39) |
G1054E |
probably damaging |
Het |
| Slc16a3 |
A |
G |
11: 120,848,794 (GRCm39) |
R417G |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,722 (GRCm39) |
S106T |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,284 (GRCm39) |
T220A |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,412,468 (GRCm39) |
F474L |
possibly damaging |
Het |
| Tas2r106 |
G |
T |
6: 131,655,422 (GRCm39) |
A143D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,383,707 (GRCm39) |
|
probably null |
Het |
| Tfap2a |
T |
A |
13: 40,870,706 (GRCm39) |
N402I |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,765,639 (GRCm39) |
I353M |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,270,385 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,580,791 (GRCm39) |
|
probably null |
Het |
| Uhrf1 |
T |
C |
17: 56,622,478 (GRCm39) |
V431A |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,200 (GRCm39) |
K376R |
probably benign |
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 |
|
|
R5387:Tle3
|
UTSW |
9 |
61,314,771 (GRCm39) |
splice site |
probably null |
|
|
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'- AAACTTGCTGGGAAGGTTCTGG -3'
(R):5'- ACGCAAAGGGTTAAGGCTGC -3'
Sequencing Primer
(F):5'- CTGGGAAGGTTCTGGGCTGTG -3'
(R):5'- CCTTACCTGTGATACTGAGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation