Incidental Mutation 'IGL00966:Tle6'
ID |
28404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tle6
|
Ensembl Gene |
ENSMUSG00000034758 |
Gene Name |
transducin-like enhancer of split 6 |
Synonyms |
1810057E06Rik, Grg6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
IGL00966
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81430292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 287
(L287M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000135211]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000151858]
|
AlphaFold |
Q9WVB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072020
AA Change: L297M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071905 Gene: ENSMUSG00000034758 AA Change: L297M
Domain | Start | End | E-Value | Type |
WD40
|
283 |
320 |
9.6e-2 |
SMART |
Blast:WD40
|
334 |
372 |
2e-12 |
BLAST |
WD40
|
377 |
415 |
6.16e0 |
SMART |
WD40
|
418 |
455 |
7.43e-1 |
SMART |
Blast:WD40
|
460 |
496 |
4e-13 |
BLAST |
WD40
|
499 |
538 |
1.43e0 |
SMART |
WD40
|
541 |
578 |
2.97e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124854
|
SMART Domains |
Protein: ENSMUSP00000118334 Gene: ENSMUSG00000034771
Domain | Start | End | E-Value | Type |
Blast:WD40
|
6 |
44 |
9e-20 |
BLAST |
WD40
|
46 |
85 |
1.2e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128278
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129282
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142948
AA Change: L287M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117287 Gene: ENSMUSG00000034758 AA Change: L287M
Domain | Start | End | E-Value | Type |
WD40
|
273 |
310 |
9.6e-2 |
SMART |
Blast:WD40
|
324 |
362 |
2e-12 |
BLAST |
WD40
|
367 |
405 |
6.16e0 |
SMART |
WD40
|
408 |
445 |
7.43e-1 |
SMART |
Blast:WD40
|
450 |
486 |
4e-13 |
BLAST |
WD40
|
489 |
528 |
1.43e0 |
SMART |
WD40
|
531 |
568 |
2.97e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131530
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135211
|
SMART Domains |
Protein: ENSMUSP00000117453 Gene: ENSMUSG00000034771
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
122 |
3e-68 |
PFAM |
low complexity region
|
133 |
160 |
N/A |
INTRINSIC |
low complexity region
|
172 |
194 |
N/A |
INTRINSIC |
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
low complexity region
|
332 |
352 |
N/A |
INTRINSIC |
WD40
|
436 |
473 |
5.6e-3 |
SMART |
WD40
|
479 |
520 |
9.6e-2 |
SMART |
WD40
|
525 |
564 |
1.88e-4 |
SMART |
WD40
|
567 |
606 |
3.72e-8 |
SMART |
Blast:WD40
|
609 |
647 |
8e-18 |
BLAST |
WD40
|
649 |
688 |
1.2e-2 |
SMART |
WD40
|
689 |
729 |
2.07e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131411
|
SMART Domains |
Protein: ENSMUSP00000114400 Gene: ENSMUSG00000034771
Domain | Start | End | E-Value | Type |
WD40
|
36 |
75 |
1.2e-2 |
SMART |
WD40
|
76 |
116 |
2.07e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146358
|
SMART Domains |
Protein: ENSMUSP00000121125 Gene: ENSMUSG00000034771
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
64 |
2e-31 |
PFAM |
Pfam:TLE_N
|
81 |
154 |
4.3e-34 |
PFAM |
low complexity region
|
167 |
194 |
N/A |
INTRINSIC |
low complexity region
|
206 |
228 |
N/A |
INTRINSIC |
low complexity region
|
296 |
311 |
N/A |
INTRINSIC |
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
WD40
|
471 |
508 |
5.6e-3 |
SMART |
WD40
|
514 |
555 |
9.6e-2 |
SMART |
WD40
|
560 |
599 |
1.88e-4 |
SMART |
WD40
|
602 |
641 |
3.72e-8 |
SMART |
Blast:WD40
|
644 |
682 |
9e-18 |
BLAST |
WD40
|
684 |
723 |
1.2e-2 |
SMART |
WD40
|
724 |
764 |
2.07e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146916
|
SMART Domains |
Protein: ENSMUSP00000121173 Gene: ENSMUSG00000034771
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
134 |
1.6e-75 |
PFAM |
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
low complexity region
|
183 |
205 |
N/A |
INTRINSIC |
low complexity region
|
273 |
288 |
N/A |
INTRINSIC |
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
WD40
|
435 |
472 |
5.6e-3 |
SMART |
WD40
|
478 |
519 |
9.6e-2 |
SMART |
WD40
|
524 |
563 |
1.88e-4 |
SMART |
WD40
|
566 |
605 |
3.72e-8 |
SMART |
WD40
|
648 |
687 |
1.2e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151858
|
SMART Domains |
Protein: ENSMUSP00000119945 Gene: ENSMUSG00000034758
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
77 |
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 member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 104,003,855 (GRCm39) |
E649G |
probably damaging |
Het |
Adgre1 |
C |
A |
17: 57,726,335 (GRCm39) |
T402K |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,000 (GRCm39) |
|
probably benign |
Het |
Amy1 |
T |
C |
3: 113,349,689 (GRCm39) |
I494V |
probably benign |
Het |
Arhgef40 |
G |
A |
14: 52,229,155 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
T |
C |
8: 120,472,329 (GRCm39) |
V461A |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,652,583 (GRCm39) |
S595P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,844,836 (GRCm39) |
Y692* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,234,414 (GRCm39) |
V225I |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,340,345 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,656,664 (GRCm39) |
I178N |
probably benign |
Het |
Dus2 |
T |
A |
8: 106,752,533 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,929 (GRCm39) |
H570Y |
probably damaging |
Het |
Ephb3 |
A |
C |
16: 21,036,044 (GRCm39) |
T57P |
probably benign |
Het |
Fat3 |
C |
A |
9: 15,910,390 (GRCm39) |
V1871F |
possibly damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,874 (GRCm39) |
T130A |
probably benign |
Het |
Fbxl20 |
C |
T |
11: 98,001,800 (GRCm39) |
S99N |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,593 (GRCm39) |
E182G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,703,080 (GRCm39) |
D281G |
probably benign |
Het |
Gm17175 |
G |
T |
14: 51,810,526 (GRCm39) |
Q34K |
possibly damaging |
Het |
Gm5592 |
T |
A |
7: 40,938,519 (GRCm39) |
D600E |
probably damaging |
Het |
Gtf2e1 |
T |
C |
16: 37,336,092 (GRCm39) |
E294G |
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,327,517 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
C |
16: 33,530,977 (GRCm39) |
L151P |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,319,006 (GRCm39) |
V3902G |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,237,776 (GRCm39) |
Y4C |
probably damaging |
Het |
Ighv1-19 |
A |
C |
12: 114,672,569 (GRCm39) |
V17G |
possibly damaging |
Het |
Iqca1 |
T |
A |
1: 89,973,379 (GRCm39) |
I770F |
probably benign |
Het |
Jak3 |
T |
A |
8: 72,131,656 (GRCm39) |
C115S |
probably benign |
Het |
Kif18b |
A |
T |
11: 102,805,501 (GRCm39) |
M252K |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,236 (GRCm39) |
V237D |
probably benign |
Het |
Klhl11 |
C |
T |
11: 100,354,031 (GRCm39) |
V597I |
possibly damaging |
Het |
Krt72 |
T |
A |
15: 101,689,396 (GRCm39) |
Y312F |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,360,600 (GRCm39) |
I191N |
probably damaging |
Het |
Npc2 |
A |
T |
12: 84,819,619 (GRCm39) |
I8N |
possibly damaging |
Het |
Nr4a1 |
T |
C |
15: 101,170,669 (GRCm39) |
L413P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,638,645 (GRCm39) |
N895S |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,531 (GRCm39) |
F40L |
probably benign |
Het |
Ppef1 |
A |
G |
X: 159,468,290 (GRCm39) |
I94T |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,455 (GRCm39) |
T290I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,499,927 (GRCm39) |
V1239E |
probably damaging |
Het |
Rab8b |
T |
G |
9: 66,760,274 (GRCm39) |
M117L |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,512 (GRCm39) |
I305F |
possibly damaging |
Het |
Sdr39u1 |
A |
G |
14: 56,135,463 (GRCm39) |
V160A |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,668 (GRCm39) |
T653M |
probably benign |
Het |
Stk39 |
T |
A |
2: 68,042,302 (GRCm39) |
E544D |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,290,367 (GRCm39) |
T313A |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,105,932 (GRCm39) |
H821R |
probably benign |
Het |
Tmem230 |
G |
T |
2: 132,087,897 (GRCm39) |
D26E |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,880,885 (GRCm39) |
F394S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,641,721 (GRCm39) |
L13458F |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,634,675 (GRCm39) |
N161I |
probably benign |
Het |
Wdr87-ps |
C |
A |
7: 29,236,888 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Tle6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02151:Tle6
|
APN |
10 |
81,434,474 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02724:Tle6
|
APN |
10 |
81,435,898 (GRCm39) |
nonsense |
probably null |
|
R0420:Tle6
|
UTSW |
10 |
81,431,145 (GRCm39) |
unclassified |
probably benign |
|
R0423:Tle6
|
UTSW |
10 |
81,434,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0589:Tle6
|
UTSW |
10 |
81,431,253 (GRCm39) |
unclassified |
probably benign |
|
R0605:Tle6
|
UTSW |
10 |
81,430,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R1554:Tle6
|
UTSW |
10 |
81,431,219 (GRCm39) |
missense |
probably benign |
0.05 |
R1860:Tle6
|
UTSW |
10 |
81,430,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Tle6
|
UTSW |
10 |
81,427,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1952:Tle6
|
UTSW |
10 |
81,431,319 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2139:Tle6
|
UTSW |
10 |
81,429,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R2337:Tle6
|
UTSW |
10 |
81,428,490 (GRCm39) |
splice site |
probably null |
|
R2849:Tle6
|
UTSW |
10 |
81,430,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R3158:Tle6
|
UTSW |
10 |
81,431,038 (GRCm39) |
splice site |
probably null |
|
R3777:Tle6
|
UTSW |
10 |
81,431,987 (GRCm39) |
missense |
probably benign |
0.23 |
R3778:Tle6
|
UTSW |
10 |
81,431,987 (GRCm39) |
missense |
probably benign |
0.23 |
R4085:Tle6
|
UTSW |
10 |
81,430,349 (GRCm39) |
splice site |
probably null |
|
R5058:Tle6
|
UTSW |
10 |
81,431,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Tle6
|
UTSW |
10 |
81,430,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5183:Tle6
|
UTSW |
10 |
81,428,635 (GRCm39) |
missense |
probably damaging |
0.97 |
R6225:Tle6
|
UTSW |
10 |
81,428,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Tle6
|
UTSW |
10 |
81,431,073 (GRCm39) |
missense |
probably benign |
0.00 |
R6514:Tle6
|
UTSW |
10 |
81,427,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R6515:Tle6
|
UTSW |
10 |
81,427,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R6517:Tle6
|
UTSW |
10 |
81,427,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R7145:Tle6
|
UTSW |
10 |
81,435,910 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8070:Tle6
|
UTSW |
10 |
81,434,476 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8085:Tle6
|
UTSW |
10 |
81,431,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R8194:Tle6
|
UTSW |
10 |
81,426,888 (GRCm39) |
missense |
probably damaging |
0.98 |
R9066:Tle6
|
UTSW |
10 |
81,430,212 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9421:Tle6
|
UTSW |
10 |
81,429,868 (GRCm39) |
missense |
|
|
R9433:Tle6
|
UTSW |
10 |
81,426,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |