Incidental Mutation 'R6225:Tle6'
ID |
504273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tle6
|
Ensembl Gene |
ENSMUSG00000034758 |
Gene Name |
transducin-like enhancer of split 6 |
Synonyms |
1810057E06Rik, Grg6 |
MMRRC Submission |
044356-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R6225 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81426738-81436907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81428600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 443
(C443R)
|
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: C453R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071905 Gene: ENSMUSG00000034758 AA Change: C453R
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 |
probably damaging
Transcript: ENSMUST00000142948
AA Change: C443R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117287 Gene: ENSMUSG00000034758 AA Change: C443R
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: ENSMUST00000140433
|
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: ENSMUST00000131530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135008
|
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: ENSMUST00000134457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149721
|
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: 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: ENSMUST00000153812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146239
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (74/74) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,870,445 (GRCm39) |
H288R |
possibly damaging |
Het |
Adh1 |
T |
C |
3: 137,995,565 (GRCm39) |
F323L |
probably benign |
Het |
Adss1 |
A |
C |
12: 112,600,837 (GRCm39) |
H226P |
probably damaging |
Het |
Ahrr |
A |
G |
13: 74,371,031 (GRCm39) |
S230P |
possibly damaging |
Het |
Akap9 |
T |
C |
5: 4,012,105 (GRCm39) |
V936A |
probably damaging |
Het |
B4galnt2 |
A |
G |
11: 95,759,268 (GRCm39) |
Y339H |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,002,453 (GRCm39) |
V1466A |
probably damaging |
Het |
C4b |
C |
A |
17: 34,957,848 (GRCm39) |
G611V |
possibly damaging |
Het |
Cacna1i |
A |
G |
15: 80,205,427 (GRCm39) |
M128V |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,038,213 (GRCm39) |
S370P |
possibly damaging |
Het |
Cops6 |
T |
C |
5: 138,159,673 (GRCm39) |
V9A |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,059,321 (GRCm39) |
I193K |
probably benign |
Het |
Daam2 |
T |
C |
17: 49,801,467 (GRCm39) |
D90G |
probably damaging |
Het |
Fads3 |
A |
G |
19: 10,019,202 (GRCm39) |
D36G |
probably benign |
Het |
Fam185a |
T |
C |
5: 21,630,554 (GRCm39) |
V130A |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,172,463 (GRCm39) |
N1928K |
probably damaging |
Het |
Fstl3 |
A |
G |
10: 79,615,843 (GRCm39) |
M110V |
probably benign |
Het |
G2e3 |
A |
G |
12: 51,415,919 (GRCm39) |
T552A |
possibly damaging |
Het |
Gfra1 |
G |
A |
19: 58,226,830 (GRCm39) |
T462I |
probably damaging |
Het |
Glrx2 |
T |
A |
1: 143,621,121 (GRCm39) |
|
probably benign |
Het |
Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
Gm43302 |
T |
A |
5: 105,425,605 (GRCm39) |
K275* |
probably null |
Het |
Gm6569 |
A |
G |
15: 73,711,640 (GRCm39) |
|
probably benign |
Het |
Herc6 |
G |
T |
6: 57,639,139 (GRCm39) |
V867L |
possibly damaging |
Het |
Hhipl2 |
T |
A |
1: 183,209,459 (GRCm39) |
|
probably null |
Het |
Kcnj16 |
A |
T |
11: 110,916,378 (GRCm39) |
K347* |
probably null |
Het |
Kcnt2 |
T |
A |
1: 140,354,661 (GRCm39) |
C305* |
probably null |
Het |
Large2 |
A |
G |
2: 92,196,825 (GRCm39) |
L477P |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,799,245 (GRCm39) |
T137A |
possibly damaging |
Het |
Mettl3 |
T |
C |
14: 52,534,215 (GRCm39) |
|
probably null |
Het |
Mical3 |
C |
T |
6: 120,935,684 (GRCm39) |
S1614N |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,249,622 (GRCm39) |
V199E |
possibly damaging |
Het |
Morc3 |
C |
A |
16: 93,642,082 (GRCm39) |
Y100* |
probably null |
Het |
Mrc2 |
A |
G |
11: 105,237,646 (GRCm39) |
K1108R |
probably benign |
Het |
Mrpl2 |
T |
C |
17: 46,960,835 (GRCm39) |
V243A |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,605,794 (GRCm39) |
N1505K |
probably benign |
Het |
Myo1g |
A |
T |
11: 6,469,168 (GRCm39) |
Y45N |
probably damaging |
Het |
Nckap5l |
C |
A |
15: 99,325,905 (GRCm39) |
L199F |
possibly damaging |
Het |
Ndufc2 |
A |
G |
7: 97,056,099 (GRCm39) |
T66A |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,050,917 (GRCm39) |
H779Q |
probably damaging |
Het |
Or12e13 |
A |
G |
2: 87,663,661 (GRCm39) |
T93A |
probably benign |
Het |
Or13j1 |
T |
C |
4: 43,705,698 (GRCm39) |
Y290C |
probably damaging |
Het |
Or1e23 |
T |
C |
11: 73,407,831 (GRCm39) |
N65D |
probably damaging |
Het |
Or4c3 |
A |
G |
2: 89,851,573 (GRCm39) |
|
probably null |
Het |
Or51ah3 |
A |
T |
7: 103,210,489 (GRCm39) |
R268S |
probably benign |
Het |
Or5au1 |
C |
A |
14: 52,272,825 (GRCm39) |
V248L |
possibly damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,545 (GRCm39) |
N153S |
probably benign |
Het |
Otog |
C |
T |
7: 45,898,458 (GRCm39) |
T192I |
possibly damaging |
Het |
Oxct1 |
T |
C |
15: 4,064,812 (GRCm39) |
V50A |
probably benign |
Het |
P3h2 |
T |
A |
16: 25,784,493 (GRCm39) |
D667V |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,047 (GRCm39) |
Y191C |
probably damaging |
Het |
Pds5b |
T |
G |
5: 150,670,083 (GRCm39) |
V357G |
probably damaging |
Het |
Pggt1b |
A |
G |
18: 46,407,674 (GRCm39) |
V81A |
possibly damaging |
Het |
Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,095,469 (GRCm39) |
I406T |
probably benign |
Het |
Ppat |
T |
C |
5: 77,070,202 (GRCm39) |
I173V |
probably damaging |
Het |
Proser3 |
T |
C |
7: 30,243,153 (GRCm39) |
S167G |
probably damaging |
Het |
Rnf135 |
A |
C |
11: 80,080,053 (GRCm39) |
T115P |
possibly damaging |
Het |
Rpl22 |
C |
T |
4: 152,414,536 (GRCm39) |
R65C |
probably benign |
Het |
Scel |
T |
C |
14: 103,829,420 (GRCm39) |
F405L |
probably benign |
Het |
Serinc3 |
A |
G |
2: 163,469,799 (GRCm39) |
Y350H |
probably damaging |
Het |
Slc25a16 |
C |
A |
10: 62,764,102 (GRCm39) |
T53K |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,870,215 (GRCm39) |
F308I |
possibly damaging |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Smok3c |
T |
C |
5: 138,063,314 (GRCm39) |
V267A |
probably benign |
Het |
Ssrp1 |
A |
G |
2: 84,873,158 (GRCm39) |
D473G |
probably benign |
Het |
Svs6 |
A |
G |
2: 164,159,405 (GRCm39) |
E56G |
possibly damaging |
Het |
Tas2r130 |
TCATTTC |
T |
6: 131,607,547 (GRCm39) |
|
probably benign |
Het |
Thoc3 |
T |
C |
13: 54,615,785 (GRCm39) |
N93S |
probably benign |
Het |
Tmed6 |
A |
G |
8: 107,788,371 (GRCm39) |
F192S |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,718,548 (GRCm39) |
N184D |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,397,638 (GRCm39) |
N207Y |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,220,352 (GRCm39) |
F792L |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp972 |
A |
T |
2: 177,549,117 (GRCm39) |
|
probably null |
Het |
Zzef1 |
G |
A |
11: 72,760,631 (GRCm39) |
C1318Y |
possibly 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 |
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 |
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'- GGTATTTTAAAGACCCCTGTGACTTC -3'
(R):5'- AGGATGATGTCACTGTTGCC -3'
Sequencing Primer
(F):5'- CTCAAAAATTCCTTGAGCTGACCTGG -3'
(R):5'- CTTGCCAAAGGTGTTAAGAGTACCTC -3'
|
Posted On |
2018-02-28 |