Incidental Mutation 'IGL00671:Tle3'
ID |
14467 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tle3
|
Ensembl Gene |
ENSMUSG00000032280 |
Gene Name |
transducin-like enhancer of split 3 |
Synonyms |
2610103N05Rik, ESG, Grg3a, Grg3b |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00671
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
61279648-61325779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61319652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 492
(N492K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034820]
[ENSMUST00000159050]
[ENSMUST00000159386]
[ENSMUST00000159630]
[ENSMUST00000160724]
[ENSMUST00000160882]
[ENSMUST00000178113]
[ENSMUST00000161207]
[ENSMUST00000162127]
[ENSMUST00000161689]
[ENSMUST00000162973]
[ENSMUST00000162583]
[ENSMUST00000161993]
|
AlphaFold |
Q08122 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034820
AA Change: N473K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034820 Gene: ENSMUSG00000032280 AA Change: N473K
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 damaging
Transcript: ENSMUST00000159050
AA Change: N476K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125032 Gene: ENSMUSG00000032280 AA Change: N476K
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 damaging
Transcript: ENSMUST00000159386
AA Change: N469K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125049 Gene: ENSMUSG00000032280 AA Change: N469K
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 damaging
Transcript: ENSMUST00000159630
AA Change: N421K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123723 Gene: ENSMUSG00000032280 AA Change: N421K
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: 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 damaging
Transcript: ENSMUST00000160882
AA Change: N491K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124131 Gene: ENSMUSG00000032280 AA Change: N491K
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: N492K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136010 Gene: ENSMUSG00000032280 AA Change: N492K
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 |
possibly damaging
Transcript: ENSMUST00000161207
AA Change: N471K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124557 Gene: ENSMUSG00000032280 AA Change: N471K
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: ENSMUST00000162127
AA Change: N411K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124150 Gene: ENSMUSG00000032280 AA Change: N411K
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 damaging
Transcript: ENSMUST00000161689
AA Change: N425K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125011 Gene: ENSMUSG00000032280 AA Change: N425K
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 damaging
Transcript: ENSMUST00000162973
AA Change: N481K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124173 Gene: ENSMUSG00000032280 AA Change: N481K
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: ENSMUST00000162583
AA Change: N478K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124977 Gene: ENSMUSG00000032280 AA Change: N478K
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 |
noncoding transcript
Transcript: ENSMUST00000162962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162281
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
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 |
|
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 |
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 |
|
Posted On |
2012-12-06 |