Incidental Mutation 'R3778:Tle6'
| ID |
271916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle6
|
| Ensembl Gene |
ENSMUSG00000034758 |
| Gene Name |
transducin-like enhancer of split 6 |
| Synonyms |
1810057E06Rik, Grg6 |
| MMRRC Submission |
040750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R3778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81431987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 86
(P86T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000151858]
|
| AlphaFold |
Q9WVB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072020
AA Change: P86T
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: P86T
| 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: ENSMUST00000127546
AA Change: P86T
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142948
AA Change: P86T
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: P86T
| 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: ENSMUST00000149721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,618,846 (GRCm39) |
L769H |
probably damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,696,675 (GRCm39) |
M106K |
possibly damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,332,220 (GRCm39) |
P442Q |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,092,862 (GRCm39) |
D158A |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,446,134 (GRCm39) |
N976S |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,206 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
T |
16: 26,190,216 (GRCm39) |
C54Y |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,541 (GRCm39) |
I407N |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,822 (GRCm39) |
V20A |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,159,006 (GRCm39) |
C2253Y |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,037,435 (GRCm39) |
T383S |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,915,353 (GRCm38) |
V1495I |
probably benign |
Het |
| Fscn3 |
A |
C |
6: 28,430,031 (GRCm39) |
K67T |
possibly damaging |
Het |
| Gls |
A |
G |
1: 52,208,071 (GRCm39) |
V571A |
probably benign |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm4871 |
A |
G |
5: 144,966,893 (GRCm39) |
S197P |
probably damaging |
Het |
| Gm7104 |
A |
T |
12: 88,252,441 (GRCm39) |
|
noncoding transcript |
Het |
| Gp9 |
A |
T |
6: 87,755,987 (GRCm39) |
M1L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,469,444 (GRCm39) |
L153H |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,926,708 (GRCm39) |
|
probably null |
Het |
| Hadha |
A |
T |
5: 30,325,127 (GRCm39) |
C688S |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,678,575 (GRCm39) |
D515E |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,847 (GRCm39) |
V230E |
possibly damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,446 (GRCm39) |
D632G |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,365,277 (GRCm39) |
I625T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,339,548 (GRCm39) |
M1121K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,966,209 (GRCm39) |
L277P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,434,721 (GRCm39) |
I2241F |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,702,128 (GRCm39) |
T461M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,115 (GRCm39) |
S440P |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,939 (GRCm39) |
S2201P |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,649 (GRCm39) |
T32A |
probably benign |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Pard6g |
A |
T |
18: 80,123,038 (GRCm39) |
|
probably null |
Het |
| Pask |
T |
A |
1: 93,255,189 (GRCm39) |
I294F |
probably damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,533 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 73,782,983 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Ppm1e |
T |
C |
11: 87,139,754 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Sec24c |
A |
G |
14: 20,733,375 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,295 (GRCm39) |
N602K |
probably benign |
Het |
| Sirt5 |
A |
G |
13: 43,536,583 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
T |
C |
4: 139,026,293 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Tmem235 |
A |
T |
11: 117,753,126 (GRCm39) |
H83L |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,036,636 (GRCm39) |
V861A |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,821,941 (GRCm39) |
D174A |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,601,347 (GRCm39) |
C355R |
probably benign |
Het |
| Zfp229 |
A |
T |
17: 21,964,183 (GRCm39) |
T138S |
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 |
|
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'- AAGCCTTGACAGAACTGGG -3'
(R):5'- GAAGAGCTTACCTAGTGCCAAG -3'
Sequencing Primer
(F):5'- TTGACAGAACTGGGGCTCC -3'
(R):5'- GAGCTTACCTAGTGCCAAGCTTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation