Incidental Mutation 'IGL02109:Tle3'
ID |
281160 |
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 # |
IGL02109
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
61279648-61325779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61320332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 595
(C595S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034820]
[ENSMUST00000159050]
[ENSMUST00000159386]
[ENSMUST00000159630]
[ENSMUST00000160882]
[ENSMUST00000161207]
[ENSMUST00000162127]
[ENSMUST00000178113]
[ENSMUST00000161689]
[ENSMUST00000162973]
[ENSMUST00000162583]
[ENSMUST00000161993]
|
AlphaFold |
Q08122 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034820
AA Change: C587S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034820 Gene: ENSMUSG00000032280 AA Change: C587S
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: C590S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125032 Gene: ENSMUSG00000032280 AA Change: C590S
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: C583S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125049 Gene: ENSMUSG00000032280 AA Change: C583S
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: C535S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123723 Gene: ENSMUSG00000032280 AA Change: C535S
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 damaging
Transcript: ENSMUST00000160882
AA Change: C605S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124131 Gene: ENSMUSG00000032280 AA Change: C605S
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: ENSMUST00000161207
AA Change: C585S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124557 Gene: ENSMUSG00000032280 AA Change: C585S
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: C525S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124150 Gene: ENSMUSG00000032280 AA Change: C525S
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: ENSMUST00000178113
AA Change: C606S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136010 Gene: ENSMUSG00000032280 AA Change: C606S
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: ENSMUST00000161689
AA Change: C539S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125011 Gene: ENSMUSG00000032280 AA Change: C539S
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: C595S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124173 Gene: ENSMUSG00000032280 AA Change: C595S
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: C592S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124977 Gene: ENSMUSG00000032280 AA Change: C592S
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: ENSMUST00000162281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162962
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
Ocstamp |
A |
T |
2: 165,239,256 (GRCm39) |
V310E |
possibly damaging |
Het |
Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,246,568 (GRCm39) |
S324P |
probably damaging |
Het |
Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
Scgn |
T |
C |
13: 24,137,948 (GRCm39) |
D241G |
possibly damaging |
Het |
St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
Tmem209 |
T |
C |
6: 30,497,944 (GRCm39) |
Y117C |
probably damaging |
Het |
Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
Ttll10 |
C |
T |
4: 156,131,937 (GRCm39) |
D22N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably 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 |
|
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 |
2015-04-16 |