Incidental Mutation 'R6515:Tle6'
ID |
520615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tle6
|
Ensembl Gene |
ENSMUSG00000034758 |
Gene Name |
transducin-like enhancer of split 6 |
Synonyms |
1810057E06Rik, Grg6 |
MMRRC Submission |
044642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R6515 (G1)
|
Quality Score |
136.008 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 81427810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 482
(H482Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000135211]
[ENSMUST00000151858]
[ENSMUST00000146916]
[ENSMUST00000146358]
|
AlphaFold |
Q9WVB3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072020
AA Change: H492Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071905 Gene: ENSMUSG00000034758 AA Change: H492Y
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: H482Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117287 Gene: ENSMUSG00000034758 AA Change: H482Y
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: 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 |
noncoding transcript
Transcript: ENSMUST00000134457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141913
|
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: ENSMUST00000136254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
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 |
noncoding transcript
Transcript: ENSMUST00000153812
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
100% (41/41) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1s3 |
T |
C |
1: 79,592,044 (GRCm39) |
D102G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,084,910 (GRCm39) |
M369K |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,411,903 (GRCm39) |
K46R |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,419,171 (GRCm39) |
|
probably null |
Het |
Cabyr |
A |
G |
18: 12,887,340 (GRCm39) |
S324G |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,646,423 (GRCm39) |
D1832G |
possibly damaging |
Het |
Cdk4 |
C |
T |
10: 126,902,052 (GRCm39) |
P256S |
probably null |
Het |
Cnot6l |
C |
A |
5: 96,309,537 (GRCm39) |
|
probably benign |
Het |
Cox17 |
C |
A |
16: 38,167,557 (GRCm39) |
A32E |
probably damaging |
Het |
Cyp27b1 |
G |
T |
10: 126,884,119 (GRCm39) |
|
probably benign |
Het |
Enpp2 |
T |
A |
15: 54,723,489 (GRCm39) |
N628I |
possibly damaging |
Het |
Ggcx |
T |
C |
6: 72,402,815 (GRCm39) |
C258R |
probably benign |
Het |
Hbb-bh1 |
T |
C |
7: 103,491,974 (GRCm39) |
D80G |
probably damaging |
Het |
Hoxb5 |
A |
T |
11: 96,195,908 (GRCm39) |
D252V |
probably damaging |
Het |
Hspa4l |
A |
G |
3: 40,736,014 (GRCm39) |
D545G |
possibly damaging |
Het |
Hspa5 |
T |
A |
2: 34,662,416 (GRCm39) |
V28E |
probably benign |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
Kif19b |
T |
C |
5: 140,480,779 (GRCm39) |
S970P |
possibly damaging |
Het |
Klra17 |
A |
T |
6: 129,808,462 (GRCm39) |
I257N |
probably damaging |
Het |
Megf6 |
C |
T |
4: 154,343,376 (GRCm39) |
H662Y |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,700,120 (GRCm39) |
K676R |
probably damaging |
Het |
Nutm1 |
A |
C |
2: 112,086,665 (GRCm39) |
L22R |
probably benign |
Het |
Oas1f |
T |
C |
5: 120,986,497 (GRCm39) |
V150A |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,639,467 (GRCm39) |
Y105C |
probably benign |
Het |
Or4f62 |
T |
C |
2: 111,986,710 (GRCm39) |
L138P |
probably benign |
Het |
Pik3ap1 |
A |
G |
19: 41,364,585 (GRCm39) |
Y45H |
probably benign |
Het |
Pnlip |
T |
C |
19: 58,661,547 (GRCm39) |
S79P |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 44,989,657 (GRCm39) |
D1185G |
possibly damaging |
Het |
Pphln1-ps1 |
G |
A |
16: 13,494,820 (GRCm39) |
|
probably benign |
Het |
Rbm34 |
A |
T |
8: 127,688,682 (GRCm39) |
S217T |
possibly damaging |
Het |
Rbm44 |
T |
C |
1: 91,092,860 (GRCm39) |
I820T |
probably damaging |
Het |
Rnf151 |
A |
T |
17: 24,935,391 (GRCm39) |
L180Q |
probably benign |
Het |
Sec24d |
G |
A |
3: 123,136,719 (GRCm39) |
R484Q |
possibly damaging |
Het |
Spop |
C |
A |
11: 95,376,761 (GRCm39) |
D271E |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
Thap12 |
A |
G |
7: 98,356,302 (GRCm39) |
E63G |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,501,085 (GRCm39) |
T441S |
possibly damaging |
Het |
Tmem184a |
A |
G |
5: 139,794,193 (GRCm39) |
F177L |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,315,131 (GRCm39) |
S313T |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,100,584 (GRCm39) |
I1068T |
probably benign |
Het |
Xirp1 |
T |
C |
9: 119,845,983 (GRCm39) |
R967G |
probably benign |
Het |
|
Other mutations in Tle6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Tle6
|
APN |
10 |
81,430,292 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATAGCAGGGTCCTCTGAGAG -3'
(R):5'- CCTCACAGAAGGAAGGTGTG -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCTGTACACCAG -3'
(R):5'- AGACACAGTCGGGCCACAG -3'
|
Posted On |
2018-06-06 |