Incidental Mutation 'R9278:Efcab6'
| ID |
703464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83777094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1114
(V1114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156187
AA Change: V1114A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: V1114A
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
100 |
128 |
9.33e-2 |
SMART |
|
low complexity region
|
162 |
172 |
N/A |
INTRINSIC |
|
EFh
|
201 |
229 |
5e-2 |
SMART |
|
EFh
|
325 |
353 |
1.59e1 |
SMART |
|
EFh
|
532 |
560 |
1.17e2 |
SMART |
|
low complexity region
|
598 |
607 |
N/A |
INTRINSIC |
|
EFh
|
659 |
687 |
8.82e1 |
SMART |
|
EFh
|
767 |
795 |
3.71e0 |
SMART |
|
low complexity region
|
802 |
816 |
N/A |
INTRINSIC |
|
EFh
|
909 |
937 |
2.46e-1 |
SMART |
|
low complexity region
|
962 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1070 |
N/A |
INTRINSIC |
|
EFh
|
1090 |
1118 |
2.09e0 |
SMART |
|
low complexity region
|
1131 |
1136 |
N/A |
INTRINSIC |
|
EFh
|
1197 |
1225 |
2e1 |
SMART |
|
Blast:EFh
|
1233 |
1261 |
1e-9 |
BLAST |
|
EFh
|
1342 |
1370 |
3.48e-1 |
SMART |
|
EFh
|
1453 |
1481 |
2.49e0 |
SMART |
|
Blast:EFh
|
1489 |
1516 |
6e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 93.4%
- 10x: 93.2%
- 20x: 92.9%
|
| Validation Efficiency |
97% (77/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Aicda |
C |
T |
6: 122,538,854 (GRCm39) |
A161V |
possibly damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,344,599 (GRCm39) |
E91K |
possibly damaging |
Het |
| Arpc2 |
C |
A |
1: 74,276,041 (GRCm39) |
F19L |
probably benign |
Het |
| Aspa |
T |
C |
11: 73,215,280 (GRCm39) |
K12E |
possibly damaging |
Het |
| Chd8 |
G |
A |
14: 52,472,627 (GRCm39) |
P392L |
probably benign |
Het |
| Cldn10 |
C |
T |
14: 119,111,647 (GRCm39) |
R206W |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,181,224 (GRCm39) |
M203K |
probably damaging |
Het |
| Clec4d |
G |
T |
6: 123,251,651 (GRCm39) |
E178* |
probably null |
Het |
| Clec4d |
T |
C |
6: 123,251,649 (GRCm39) |
M177T |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,568 (GRCm39) |
Y73F |
probably benign |
Het |
| Col1a1 |
T |
A |
11: 94,838,103 (GRCm39) |
V845D |
unknown |
Het |
| Cyp2c67 |
C |
T |
19: 39,597,699 (GRCm39) |
R433Q |
probably damaging |
Het |
| Dda1 |
A |
T |
8: 71,927,130 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
T |
8: 62,431,012 (GRCm39) |
Y849F |
possibly damaging |
Het |
| Dnm2 |
C |
T |
9: 21,416,977 (GRCm39) |
R837W |
possibly damaging |
Het |
| Dtwd1 |
C |
T |
2: 126,006,728 (GRCm39) |
T250I |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,945,171 (GRCm39) |
T1355A |
probably benign |
Het |
| Fbxo40 |
T |
G |
16: 36,789,940 (GRCm39) |
D390A |
possibly damaging |
Het |
| Gnaz |
T |
A |
10: 74,827,437 (GRCm39) |
L63Q |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,080,307 (GRCm39) |
K179N |
probably damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,965,786 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
A |
G |
7: 46,440,397 (GRCm39) |
F18L |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,876,694 (GRCm39) |
E189G |
probably benign |
Het |
| Ifnar1 |
T |
A |
16: 91,302,013 (GRCm39) |
I496N |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,375 (GRCm39) |
D379G |
probably damaging |
Het |
| Igf2r |
C |
A |
17: 12,914,240 (GRCm39) |
C1743F |
probably damaging |
Het |
| Igfn1 |
C |
A |
1: 135,901,185 (GRCm39) |
R431L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,045,217 (GRCm39) |
Q507R |
probably benign |
Het |
| Kbtbd2 |
C |
A |
6: 56,757,331 (GRCm39) |
R135L |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,725,446 (GRCm39) |
I314T |
probably damaging |
Het |
| Lix1 |
A |
G |
17: 17,623,211 (GRCm39) |
D2G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,487,076 (GRCm39) |
Y4557C |
|
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcam |
G |
T |
9: 44,046,473 (GRCm39) |
|
probably benign |
Het |
| Med19 |
G |
T |
2: 84,508,975 (GRCm39) |
G63C |
probably damaging |
Het |
| Mfsd4b1 |
C |
T |
10: 39,883,330 (GRCm39) |
R40H |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,146,190 (GRCm39) |
R2929H |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,237,908 (GRCm39) |
D1434G |
probably benign |
Het |
| Nlrp14 |
A |
T |
7: 106,797,049 (GRCm39) |
N972I |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,936 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,235,275 (GRCm39) |
M273L |
probably benign |
Het |
| Or2h15 |
A |
T |
17: 38,441,693 (GRCm39) |
L130Q |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,439,948 (GRCm39) |
F166C |
probably damaging |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,781 (GRCm39) |
V135A |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,460,158 (GRCm39) |
V575A |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,925 (GRCm39) |
S412G |
possibly damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,224 (GRCm39) |
D230G |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,646,308 (GRCm39) |
S46I |
probably damaging |
Het |
| Pik3ca |
A |
T |
3: 32,508,587 (GRCm39) |
N785I |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,471,485 (GRCm39) |
R274G |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,634,523 (GRCm39) |
|
probably null |
Het |
| Prune2 |
C |
T |
19: 17,101,144 (GRCm39) |
T2216I |
probably benign |
Het |
| Psma3 |
A |
T |
12: 71,041,156 (GRCm39) |
D252V |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,326,768 (GRCm39) |
V1586A |
|
Het |
| Ryr2 |
T |
C |
13: 11,897,976 (GRCm39) |
T140A |
probably benign |
Het |
| Slc25a48 |
A |
G |
13: 56,611,552 (GRCm39) |
I220V |
probably benign |
Het |
| Slc2a1 |
A |
T |
4: 118,990,607 (GRCm39) |
E246D |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,458,206 (GRCm39) |
Y448H |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
| Spag6 |
A |
C |
2: 18,703,985 (GRCm39) |
E11A |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,727,495 (GRCm39) |
|
probably null |
Het |
| Spon1 |
T |
C |
7: 113,628,188 (GRCm39) |
S315P |
probably damaging |
Het |
| Stard3 |
G |
A |
11: 98,262,931 (GRCm39) |
|
probably benign |
Het |
| Sv2c |
A |
G |
13: 96,112,589 (GRCm39) |
M636T |
probably damaging |
Het |
| Syt17 |
T |
A |
7: 118,033,480 (GRCm39) |
D172V |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,766,652 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tead2 |
G |
T |
7: 44,880,776 (GRCm39) |
S318I |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,783,883 (GRCm39) |
D289V |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,971 (GRCm39) |
|
probably benign |
Het |
| Tsen15 |
T |
C |
1: 152,259,098 (GRCm39) |
I87V |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 123,007,112 (GRCm39) |
F123S |
probably damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,258 (GRCm39) |
I146N |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,561 (GRCm39) |
N98K |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,269,788 (GRCm39) |
M433K |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,134,762 (GRCm39) |
H60L |
probably benign |
Het |
| Wbp4 |
A |
G |
14: 79,699,486 (GRCm39) |
V336A |
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,202,010 (GRCm39) |
|
probably null |
Het |
| Zpld2 |
A |
G |
4: 133,922,770 (GRCm39) |
L521P |
probably damaging |
Het |
|
| Other mutations in Efcab6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Efcab6
|
APN |
15 |
83,902,843 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00946:Efcab6
|
APN |
15 |
83,902,897 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01063:Efcab6
|
APN |
15 |
83,938,713 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
IGL01330:Efcab6
|
APN |
15 |
83,928,501 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01372:Efcab6
|
APN |
15 |
83,928,505 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01644:Efcab6
|
APN |
15 |
83,917,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02175:Efcab6
|
APN |
15 |
83,780,301 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02449:Efcab6
|
APN |
15 |
83,894,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02514:Efcab6
|
APN |
15 |
83,755,512 (GRCm39) |
splice site |
probably benign |
|
|
IGL02514:Efcab6
|
APN |
15 |
83,917,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02538:Efcab6
|
APN |
15 |
83,938,722 (GRCm39) |
start gained |
probably benign |
|
|
IGL02623:Efcab6
|
APN |
15 |
83,763,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02735:Efcab6
|
APN |
15 |
83,783,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Efcab6
|
APN |
15 |
83,836,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03274:Efcab6
|
APN |
15 |
83,752,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03400:Efcab6
|
APN |
15 |
83,751,246 (GRCm39) |
utr 3 prime |
probably benign |
|
|
P0045:Efcab6
|
UTSW |
15 |
83,802,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Efcab6
|
UTSW |
15 |
83,788,468 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4486001:Efcab6
|
UTSW |
15 |
83,857,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4618001:Efcab6
|
UTSW |
15 |
83,867,647 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0520:Efcab6
|
UTSW |
15 |
83,834,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0575:Efcab6
|
UTSW |
15 |
83,851,901 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0648:Efcab6
|
UTSW |
15 |
83,817,265 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Efcab6
|
UTSW |
15 |
83,802,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Efcab6
|
UTSW |
15 |
83,857,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1238:Efcab6
|
UTSW |
15 |
83,817,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1625:Efcab6
|
UTSW |
15 |
83,831,839 (GRCm39) |
missense |
probably benign |
|
|
R1651:Efcab6
|
UTSW |
15 |
83,755,194 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1691:Efcab6
|
UTSW |
15 |
83,817,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1844:Efcab6
|
UTSW |
15 |
83,851,822 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1929:Efcab6
|
UTSW |
15 |
83,777,163 (GRCm39) |
splice site |
probably benign |
|
|
R1983:Efcab6
|
UTSW |
15 |
83,777,163 (GRCm39) |
splice site |
probably benign |
|
|
R2100:Efcab6
|
UTSW |
15 |
83,777,168 (GRCm39) |
splice site |
probably null |
|
|
R2271:Efcab6
|
UTSW |
15 |
83,831,200 (GRCm39) |
missense |
probably benign |
|
|
R2329:Efcab6
|
UTSW |
15 |
83,834,249 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3618:Efcab6
|
UTSW |
15 |
83,834,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3687:Efcab6
|
UTSW |
15 |
83,755,479 (GRCm39) |
nonsense |
probably null |
|
|
R3688:Efcab6
|
UTSW |
15 |
83,755,479 (GRCm39) |
nonsense |
probably null |
|
|
R4212:Efcab6
|
UTSW |
15 |
83,777,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Efcab6
|
UTSW |
15 |
83,751,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Efcab6
|
UTSW |
15 |
83,788,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Efcab6
|
UTSW |
15 |
83,817,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4600:Efcab6
|
UTSW |
15 |
83,831,126 (GRCm39) |
missense |
probably benign |
|
|
R5174:Efcab6
|
UTSW |
15 |
83,938,687 (GRCm39) |
missense |
probably benign |
|
|
R5260:Efcab6
|
UTSW |
15 |
83,829,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5576:Efcab6
|
UTSW |
15 |
83,834,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5718:Efcab6
|
UTSW |
15 |
83,788,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Efcab6
|
UTSW |
15 |
83,808,478 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6027:Efcab6
|
UTSW |
15 |
83,851,922 (GRCm39) |
missense |
probably benign |
|
|
R6110:Efcab6
|
UTSW |
15 |
83,763,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6132:Efcab6
|
UTSW |
15 |
83,917,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Efcab6
|
UTSW |
15 |
83,780,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6228:Efcab6
|
UTSW |
15 |
83,851,825 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6341:Efcab6
|
UTSW |
15 |
83,820,139 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6445:Efcab6
|
UTSW |
15 |
83,752,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6494:Efcab6
|
UTSW |
15 |
83,928,523 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6611:Efcab6
|
UTSW |
15 |
83,777,036 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7392:Efcab6
|
UTSW |
15 |
83,873,152 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7599:Efcab6
|
UTSW |
15 |
83,755,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Efcab6
|
UTSW |
15 |
83,834,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Efcab6
|
UTSW |
15 |
83,902,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8031:Efcab6
|
UTSW |
15 |
83,867,699 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8075:Efcab6
|
UTSW |
15 |
83,851,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8209:Efcab6
|
UTSW |
15 |
83,788,456 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8226:Efcab6
|
UTSW |
15 |
83,788,456 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8710:Efcab6
|
UTSW |
15 |
83,902,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8869:Efcab6
|
UTSW |
15 |
83,928,432 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8890:Efcab6
|
UTSW |
15 |
83,829,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Efcab6
|
UTSW |
15 |
83,756,620 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9641:Efcab6
|
UTSW |
15 |
83,763,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0019:Efcab6
|
UTSW |
15 |
83,763,684 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0064:Efcab6
|
UTSW |
15 |
83,867,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1088:Efcab6
|
UTSW |
15 |
83,839,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGACGACATTCGAAATCCG -3'
(R):5'- ACAGTTTGTCATGATTCCTGCAC -3'
Sequencing Primer
(F):5'- GACATTCGAAATCCGGCTGTC -3'
(R):5'- ACTTCGACCCGCAGTGTCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation