Incidental Mutation 'R0420:Tle6'
| ID |
37003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle6
|
| Ensembl Gene |
ENSMUSG00000034758 |
| Gene Name |
transducin-like enhancer of split 6 |
| Synonyms |
1810057E06Rik, Grg6 |
| MMRRC Submission |
038622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R0420 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 81431145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000135211]
[ENSMUST00000151858]
|
| AlphaFold |
Q9WVB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072020
|
| SMART Domains |
Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
| 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: ENSMUST00000137631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142948
|
| SMART Domains |
Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
| 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 |
noncoding transcript
Transcript: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
| 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 |
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,991,050 (GRCm39) |
V870A |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,453,614 (GRCm39) |
M144L |
probably benign |
Het |
| Adrb2 |
T |
A |
18: 62,312,610 (GRCm39) |
I72L |
possibly damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,740,674 (GRCm39) |
H99L |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,891,280 (GRCm39) |
T17M |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,705 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,680,052 (GRCm39) |
G884E |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,826 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,011,193 (GRCm39) |
T971K |
probably damaging |
Het |
| BC048562 |
A |
T |
9: 108,323,165 (GRCm39) |
T167S |
probably benign |
Het |
| Brd9 |
A |
G |
13: 74,103,592 (GRCm39) |
M491V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,814,277 (GRCm39) |
D319V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,491,800 (GRCm38) |
R783S |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,581 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,782 (GRCm39) |
D107V |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,946,964 (GRCm39) |
E213G |
possibly damaging |
Het |
| Cyp2c37 |
A |
C |
19: 39,984,238 (GRCm39) |
N242T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,765 (GRCm39) |
V3750A |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,836 (GRCm39) |
I231L |
probably benign |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,031,861 (GRCm39) |
N254S |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,940 (GRCm39) |
L108P |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,281 (GRCm39) |
M145K |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,357,654 (GRCm39) |
N23S |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,412,047 (GRCm39) |
|
probably benign |
Het |
| Gm6434 |
T |
A |
7: 25,581,786 (GRCm39) |
|
noncoding transcript |
Het |
| Grik4 |
A |
T |
9: 42,533,392 (GRCm39) |
L376* |
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,203,090 (GRCm39) |
L51F |
probably damaging |
Het |
| Gzf1 |
A |
G |
2: 148,525,753 (GRCm39) |
T75A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,111,911 (GRCm39) |
I625T |
unknown |
Het |
| Hhat |
C |
T |
1: 192,235,242 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,914 (GRCm39) |
E181G |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,257 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
C |
11: 120,606,045 (GRCm39) |
S118R |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Ms4a5 |
A |
G |
19: 11,261,018 (GRCm39) |
L47S |
probably damaging |
Het |
| Mynn |
A |
T |
3: 30,661,608 (GRCm39) |
N230I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,593,278 (GRCm39) |
S162P |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,094,093 (GRCm39) |
F259S |
probably damaging |
Het |
| Obox1 |
T |
G |
7: 15,290,178 (GRCm39) |
S174A |
possibly damaging |
Het |
| Ociad1 |
T |
A |
5: 73,470,772 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
T |
13: 21,607,336 (GRCm39) |
V286E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,666,567 (GRCm39) |
V1032A |
probably damaging |
Het |
| Ppm1e |
C |
T |
11: 87,131,440 (GRCm39) |
A318T |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,431,491 (GRCm39) |
D757V |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,742,595 (GRCm39) |
|
probably null |
Het |
| Rbbp5 |
T |
G |
1: 132,421,582 (GRCm39) |
I94R |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,415,518 (GRCm39) |
V173A |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,625 (GRCm39) |
N700K |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,931,203 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,175 (GRCm39) |
H188L |
probably damaging |
Het |
| Spmip11 |
A |
G |
15: 98,468,975 (GRCm39) |
S17G |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,016,754 (GRCm39) |
|
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,490 (GRCm39) |
S819P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,097,951 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,522,973 (GRCm39) |
V1468A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,553,193 (GRCm39) |
N83S |
probably benign |
Het |
| Tm2d2 |
T |
G |
8: 25,508,130 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 127,941,710 (GRCm39) |
Q463H |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,153,102 (GRCm39) |
S324P |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,918,396 (GRCm39) |
T1172A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,746 (GRCm39) |
C393S |
probably benign |
Het |
| Usp42 |
G |
A |
5: 143,700,616 (GRCm39) |
L1136F |
probably damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,389,183 (GRCm39) |
M499R |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,261,071 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,450,300 (GRCm39) |
R1076H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,118,039 (GRCm39) |
M917K |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,433,929 (GRCm39) |
V281A |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,856,747 (GRCm39) |
D609G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,315,163 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,236 (GRCm39) |
K202E |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCACCACCAGTTAAGGACATGG -3'
(R):5'- TCCCAGGAAAGCAAAGATTCAGGC -3'
Sequencing Primer
(F):5'- CCACCAGTTAAGGACATGGAAAAG -3'
(R):5'- GCCTGTGTGACTTTAAACCAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation