Incidental Mutation 'R5260:Efcab6'
| ID |
401401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
042829-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 83829324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 672
(D672A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: D672A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: D672A
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163773
AA Change: D56A
|
| SMART Domains |
Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441
AA Change: D56A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
44 |
69 |
6e-9 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,461,003 (GRCm39) |
I14F |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,279 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,784,118 (GRCm39) |
V1579L |
probably benign |
Het |
| Adra2a |
T |
A |
19: 54,035,039 (GRCm39) |
C132S |
probably damaging |
Het |
| Aif1 |
T |
A |
17: 35,390,917 (GRCm39) |
|
probably null |
Het |
| Atf5 |
A |
T |
7: 44,464,510 (GRCm39) |
Y27* |
probably null |
Het |
| Atm |
A |
G |
9: 53,417,911 (GRCm39) |
S799P |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,235,210 (GRCm39) |
|
probably benign |
Het |
| Chaf1a |
C |
T |
17: 56,372,000 (GRCm39) |
H723Y |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,798,769 (GRCm39) |
W493R |
probably damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,565,230 (GRCm39) |
V198D |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,389,301 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,760,017 (GRCm39) |
G512S |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,919,393 (GRCm39) |
V1122D |
probably benign |
Het |
| Doc2b |
C |
A |
11: 75,676,989 (GRCm39) |
G128V |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,127,016 (GRCm39) |
V1378A |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,028,477 (GRCm39) |
S421T |
possibly damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,870,113 (GRCm39) |
H933Q |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,738,120 (GRCm39) |
N574K |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,069 (GRCm39) |
|
probably benign |
Het |
| Faxc |
A |
G |
4: 21,948,744 (GRCm39) |
Y152C |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,585 (GRCm39) |
Y354F |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,046 (GRCm39) |
I2526N |
possibly damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,701 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,503 (GRCm39) |
S917C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,062 (GRCm39) |
|
probably benign |
Het |
| Gusb |
A |
T |
5: 130,028,829 (GRCm39) |
Y220* |
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,411 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,471,612 (GRCm39) |
V4914A |
possibly damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,931 (GRCm39) |
C211F |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,211,058 (GRCm39) |
L802P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,602 (GRCm39) |
E624G |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,740,741 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
C |
A |
15: 101,456,823 (GRCm39) |
G186C |
possibly damaging |
Het |
| Lca5 |
G |
A |
9: 83,305,276 (GRCm39) |
R177C |
probably damaging |
Het |
| Mab21l4 |
A |
T |
1: 93,087,700 (GRCm39) |
V51E |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,907 (GRCm39) |
S318P |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,894,195 (GRCm39) |
I1207N |
probably damaging |
Het |
| Oog4 |
C |
T |
4: 143,164,424 (GRCm39) |
G369D |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,526 (GRCm39) |
D263G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,611,526 (GRCm39) |
Y287C |
probably damaging |
Het |
| Or52d13 |
A |
G |
7: 103,109,822 (GRCm39) |
F198L |
probably benign |
Het |
| Or5d35 |
A |
C |
2: 87,855,818 (GRCm39) |
I251L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,060,824 (GRCm39) |
T3060A |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,884,593 (GRCm39) |
T769I |
probably damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,190,149 (GRCm39) |
S65C |
probably damaging |
Het |
| Psma3 |
T |
C |
12: 71,031,416 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,502,591 (GRCm39) |
|
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,039,998 (GRCm39) |
|
noncoding transcript |
Het |
| Rac1 |
C |
A |
5: 143,493,886 (GRCm39) |
V104L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,362,479 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sirt7 |
A |
C |
11: 120,511,347 (GRCm39) |
|
probably benign |
Het |
| Srl |
G |
A |
16: 4,300,759 (GRCm39) |
R333* |
probably null |
Het |
| Srprb |
A |
T |
9: 103,079,119 (GRCm39) |
L756Q |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,102 (GRCm39) |
S269P |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,882,630 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,767,646 (GRCm39) |
Y37H |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,890 (GRCm39) |
Y1899C |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,076,088 (GRCm39) |
T1681A |
probably benign |
Het |
| Timm44 |
G |
T |
8: 4,325,919 (GRCm39) |
|
probably null |
Het |
| Trp73 |
A |
G |
4: 154,147,059 (GRCm39) |
V322A |
possibly damaging |
Het |
| Tsr1 |
A |
C |
11: 74,796,781 (GRCm39) |
E611A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,746 (GRCm39) |
N2290S |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,276 (GRCm39) |
V4828A |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt9b |
C |
A |
11: 103,622,875 (GRCm39) |
S176I |
possibly damaging |
Het |
| Zfp329 |
A |
G |
7: 12,540,453 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,112,697 (GRCm39) |
V279D |
probably damaging |
Het |
| Zfp932 |
C |
T |
5: 110,157,501 (GRCm39) |
Q400* |
probably null |
Het |
| Zxdc |
T |
A |
6: 90,359,075 (GRCm39) |
L569Q |
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 |
|
|
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 |
|
R9278:Efcab6
|
UTSW |
15 |
83,777,094 (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'- TGGGAATTCTTCTACTGTGCAACC -3'
(R):5'- AAAGGAAGCCCCACTCTCTG -3'
Sequencing Primer
(F):5'- GAATTCTTCTACTGTGCAACCAACCC -3'
(R):5'- TGAGCATGCCTGTCCACTCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation