Incidental Mutation 'R5058:Tle6'
| ID |
391034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle6
|
| Ensembl Gene |
ENSMUSG00000034758 |
| Gene Name |
transducin-like enhancer of split 6 |
| Synonyms |
1810057E06Rik, Grg6 |
| MMRRC Submission |
042648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R5058 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81430072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 332
(N332I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000135211]
[ENSMUST00000151858]
|
| AlphaFold |
Q9WVB3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072020
AA Change: N342I
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: N342I
| 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 |
noncoding transcript
Transcript: ENSMUST00000134457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142948
AA Change: N332I
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: N332I
| 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: ENSMUST00000135008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
| 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: 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 |
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: ENSMUST00000153379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153812
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
| Validation Efficiency |
100% (79/79) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,292,625 (GRCm39) |
Y222C |
probably damaging |
Het |
| Adprs |
A |
G |
4: 126,212,238 (GRCm39) |
S94P |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,863,510 (GRCm39) |
E202G |
probably benign |
Het |
| Cacna1d |
G |
T |
14: 29,836,201 (GRCm39) |
S849* |
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Cbfa2t2 |
T |
A |
2: 154,346,665 (GRCm39) |
I124N |
probably damaging |
Het |
| Ccdc13 |
A |
T |
9: 121,646,613 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,240,567 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,673,989 (GRCm39) |
E13* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dennd6b |
A |
G |
15: 89,071,553 (GRCm39) |
L288P |
possibly damaging |
Het |
| Dhx37 |
A |
C |
5: 125,499,295 (GRCm39) |
Y638D |
probably benign |
Het |
| Epb41 |
G |
A |
4: 131,734,746 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
A |
T |
17: 38,955,500 (GRCm39) |
I48L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,154 (GRCm39) |
Q2616R |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,919 (GRCm39) |
I116T |
probably benign |
Het |
| Flnb |
G |
T |
14: 7,924,262 (GRCm38) |
E1792* |
probably null |
Het |
| Fzd2 |
G |
A |
11: 102,495,633 (GRCm39) |
G26R |
probably damaging |
Het |
| Gm11677 |
T |
A |
11: 111,616,264 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7137 |
A |
T |
10: 77,623,905 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,063,648 (GRCm39) |
T252A |
possibly damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,484 (GRCm39) |
F433L |
probably damaging |
Het |
| Kcnmb4 |
T |
A |
10: 116,299,833 (GRCm39) |
|
probably benign |
Het |
| Meltf |
A |
G |
16: 31,706,421 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,230,491 (GRCm39) |
D1213G |
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,709,995 (GRCm39) |
F12C |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,713,582 (GRCm39) |
D120E |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,314,587 (GRCm39) |
Q142R |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,558 (GRCm39) |
L62P |
probably damaging |
Het |
| Or1j18 |
T |
G |
2: 36,625,011 (GRCm39) |
L226R |
possibly damaging |
Het |
| Or2h15 |
G |
A |
17: 38,441,432 (GRCm39) |
S217F |
probably damaging |
Het |
| Or56a4 |
T |
C |
7: 104,806,355 (GRCm39) |
N178S |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,435 (GRCm39) |
T190A |
probably benign |
Het |
| Or8c10 |
C |
A |
9: 38,279,220 (GRCm39) |
T116K |
probably damaging |
Het |
| Or8g30 |
C |
A |
9: 39,229,960 (GRCm39) |
V317L |
probably benign |
Het |
| Or9s18 |
C |
A |
13: 65,300,743 (GRCm39) |
A235D |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,659,432 (GRCm39) |
V246L |
probably benign |
Het |
| Pgghg |
C |
T |
7: 140,522,455 (GRCm39) |
T63I |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,758 (GRCm39) |
N1117S |
probably benign |
Het |
| Plch1 |
G |
T |
3: 63,630,202 (GRCm39) |
T534K |
probably damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,630,833 (GRCm39) |
I196V |
probably benign |
Het |
| Prph |
A |
T |
15: 98,953,113 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
C |
A |
14: 12,037,387 (GRCm38) |
T189K |
possibly damaging |
Het |
| R3hcc1 |
A |
T |
14: 69,941,463 (GRCm39) |
I183N |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,363 (GRCm39) |
L145P |
probably benign |
Het |
| Slc26a3 |
A |
G |
12: 31,520,964 (GRCm39) |
K723E |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,536,390 (GRCm39) |
E2G |
possibly damaging |
Het |
| Slc9a5 |
G |
T |
8: 106,082,490 (GRCm39) |
V252L |
probably benign |
Het |
| Smim26 |
C |
T |
2: 144,437,043 (GRCm39) |
T64M |
probably benign |
Het |
| Socs4 |
C |
T |
14: 47,527,589 (GRCm39) |
R175* |
probably null |
Het |
| Srebf2 |
T |
C |
15: 82,066,251 (GRCm39) |
S600P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,705 (GRCm39) |
S115T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,097,907 (GRCm39) |
D447G |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,896,591 (GRCm39) |
D766V |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,061,250 (GRCm39) |
V300A |
probably benign |
Het |
| Tnfrsf13c |
C |
T |
15: 82,108,408 (GRCm39) |
V36M |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,016,295 (GRCm39) |
I211T |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,701,344 (GRCm39) |
N379D |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,738,316 (GRCm39) |
W433R |
probably damaging |
Het |
| Tyw1 |
T |
A |
5: 130,305,927 (GRCm39) |
L350Q |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,033,070 (GRCm39) |
L76P |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,423 (GRCm39) |
L274P |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGGCCATGTTTTCCTTTG -3'
(R):5'- AGGAACTGCTATTGGTGGTAGC -3'
Sequencing Primer
(F):5'- CCTTTGTGTTGGCCAGTGC -3'
(R):5'- TCTTCACCTGCAGCCAGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation