Incidental Mutation 'R6517:Tle6'
| ID |
520810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle6
|
| Ensembl Gene |
ENSMUSG00000034758 |
| Gene Name |
transducin-like enhancer of split 6 |
| Synonyms |
1810057E06Rik, Grg6 |
| MMRRC Submission |
044644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R6517 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Not 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]
[ENSMUST00000146916]
[ENSMUST00000146358]
[ENSMUST00000151858]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000129798
|
| 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: ENSMUST00000146239
|
| 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: ENSMUST00000135008
|
| 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: 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: ENSMUST00000149721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153812
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
| Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
| Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
| Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,693,274 (GRCm39) |
D99G |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,509 (GRCm39) |
N541D |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
| Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
| Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
| Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,114,365 (GRCm39) |
S321P |
probably benign |
Het |
| Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,879,473 (GRCm39) |
H365R |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
| Taf1c |
T |
G |
8: 120,330,986 (GRCm39) |
N44T |
possibly damaging |
Het |
| Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
| Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
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 |
|
R6515: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'- TAAATAGCAGGGTCCTCTGAGAG -3'
(R):5'- CCTCACAGAAGGAAGGTGTG -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCTGTACACCAG -3'
(R):5'- AGACACAGTCGGGCCACAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation