Incidental Mutation 'R4085:Tle6'
| ID |
317095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle6
|
| Ensembl Gene |
ENSMUSG00000034758 |
| Gene Name |
transducin-like enhancer of split 6 |
| Synonyms |
1810057E06Rik, Grg6 |
| MMRRC Submission |
040979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R4085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4042 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 81430349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072020]
[ENSMUST00000127546]
[ENSMUST00000142948]
[ENSMUST00000135211]
[ENSMUST00000146358]
[ENSMUST00000146916]
[ENSMUST00000151858]
|
| AlphaFold |
Q9WVB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072020
AA Change: F278L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: F278L
| 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 null
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 benign
Transcript: ENSMUST00000142948
AA Change: F268L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: F268L
| 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: ENSMUST00000146239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
| Predicted Effect |
probably null
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 |
probably null
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 null
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 null
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: 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abca15 |
T |
C |
7: 119,981,949 (GRCm39) |
V1088A |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,391 (GRCm39) |
I319V |
probably benign |
Het |
| Atraid |
A |
T |
5: 31,209,650 (GRCm39) |
|
probably benign |
Het |
| Aurkaip1 |
A |
T |
4: 155,917,362 (GRCm39) |
K172N |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,538,438 (GRCm39) |
|
probably null |
Het |
| Ccr1 |
C |
T |
9: 123,763,987 (GRCm39) |
R181H |
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
C |
A |
1: 82,448,909 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,203,618 (GRCm39) |
V451A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,959,240 (GRCm39) |
Q177H |
probably benign |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dynlrb1 |
G |
T |
2: 155,091,896 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fam20b |
T |
C |
1: 156,533,445 (GRCm39) |
D57G |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,247,591 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
A |
G |
5: 31,451,121 (GRCm39) |
I190T |
probably damaging |
Het |
| Gad1 |
G |
T |
2: 70,420,192 (GRCm39) |
A359S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm43517 |
A |
G |
12: 49,437,897 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,821,533 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,624,054 (GRCm39) |
C608Y |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,045,746 (GRCm39) |
D2573V |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,415 (GRCm39) |
L201P |
probably damaging |
Het |
| Kdm1a |
A |
C |
4: 136,279,273 (GRCm39) |
Y762* |
probably null |
Het |
| Mef2c |
C |
T |
13: 83,723,821 (GRCm39) |
T9M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,403,131 (GRCm39) |
I413V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,052,588 (GRCm39) |
T947A |
probably damaging |
Het |
| Nlrp5 |
C |
A |
7: 23,129,523 (GRCm39) |
N863K |
probably damaging |
Het |
| Opn1sw |
A |
G |
6: 29,380,143 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or2y13 |
T |
C |
11: 49,414,955 (GRCm39) |
I135T |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,221,579 (GRCm39) |
K15E |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,558,611 (GRCm39) |
C484R |
possibly damaging |
Het |
| Rassf2 |
C |
A |
2: 131,846,299 (GRCm39) |
G153C |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,936 (GRCm39) |
N411D |
possibly damaging |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Sall1 |
C |
T |
8: 89,755,137 (GRCm39) |
V1281M |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,015,348 (GRCm39) |
M860K |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,846,685 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,910,213 (GRCm39) |
Y205C |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,788,019 (GRCm39) |
T92I |
unknown |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,473,897 (GRCm39) |
E403G |
possibly damaging |
Het |
| Tedc2 |
A |
T |
17: 24,438,813 (GRCm39) |
V168E |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,580 (GRCm39) |
I130T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,680 (GRCm39) |
H1129R |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,096 (GRCm39) |
G528R |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,223,874 (GRCm39) |
M506K |
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 |
|
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'- CAAGTGGCTTTCTGGGTCTC -3'
(R):5'- TGTGGCTGTGGCAAGAACTG -3'
Sequencing Primer
(F):5'- TGGGTCTCTGTCCTCGGC -3'
(R):5'- TCCTAGCGCTCATGAGGTAGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation