Incidental Mutation 'R5174:Efcab6'
| ID |
399060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
042754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83938687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 10
(F10L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: F10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: F10L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (69/70) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,728,209 (GRCm39) |
S632P |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,366,504 (GRCm39) |
R451W |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,172 (GRCm39) |
D1394V |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,871,041 (GRCm39) |
I545N |
probably damaging |
Het |
| Cadps2 |
T |
A |
6: 23,287,742 (GRCm39) |
Y1181F |
probably damaging |
Het |
| Camkmt |
C |
A |
17: 85,759,665 (GRCm39) |
F268L |
probably benign |
Het |
| Casp14 |
C |
T |
10: 78,551,225 (GRCm39) |
G20D |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,831,353 (GRCm39) |
C61R |
probably damaging |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Cers3 |
A |
T |
7: 66,434,616 (GRCm39) |
K203M |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,957 (GRCm39) |
F334S |
probably damaging |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,118 (GRCm39) |
D415E |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,306,443 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,352,768 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
G |
A |
1: 46,282,509 (GRCm39) |
A2881T |
possibly damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,502,161 (GRCm39) |
H55R |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,064,441 (GRCm39) |
F531L |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,455 (GRCm39) |
F476S |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,866 (GRCm39) |
N1712S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,448,893 (GRCm39) |
V1343A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,811,085 (GRCm39) |
P2468L |
probably benign |
Het |
| Gm5798 |
A |
G |
14: 41,070,620 (GRCm39) |
H10R |
possibly damaging |
Het |
| Gm7168 |
A |
G |
17: 14,168,717 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,983 (GRCm39) |
R19C |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,127,392 (GRCm39) |
F27S |
probably benign |
Het |
| Inhca |
C |
T |
9: 103,159,755 (GRCm39) |
|
probably null |
Het |
| Krba1 |
A |
G |
6: 48,389,229 (GRCm39) |
E548G |
probably damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,500 (GRCm39) |
S229P |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,868,541 (GRCm39) |
Y488F |
probably benign |
Het |
| Mia3 |
T |
A |
1: 183,112,348 (GRCm39) |
K475* |
probably null |
Het |
| Mrpl53 |
C |
T |
6: 83,086,638 (GRCm39) |
T114M |
possibly damaging |
Het |
| Mrps35 |
T |
C |
6: 146,961,709 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,556 (GRCm39) |
I539F |
possibly damaging |
Het |
| Nedd1 |
T |
A |
10: 92,547,074 (GRCm39) |
T150S |
possibly damaging |
Het |
| Nox4 |
T |
G |
7: 86,972,974 (GRCm39) |
I327S |
probably benign |
Het |
| Nrk |
C |
G |
X: 137,887,528 (GRCm39) |
A1018G |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,422,992 (GRCm39) |
N281K |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,043 (GRCm39) |
T248A |
possibly damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,610 (GRCm39) |
F121L |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,755 (GRCm39) |
V140E |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,372,600 (GRCm39) |
P2512S |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,045,390 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,619,196 (GRCm39) |
M140K |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,044,062 (GRCm39) |
I637K |
unknown |
Het |
| Sdccag8 |
A |
T |
1: 176,672,916 (GRCm39) |
T270S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,158,575 (GRCm39) |
C1022R |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,705,077 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
C |
G |
1: 107,006,228 (GRCm39) |
E287Q |
possibly damaging |
Het |
| Silc1 |
A |
T |
12: 27,192,027 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd2 |
A |
G |
11: 106,157,871 (GRCm39) |
|
probably benign |
Het |
| Sox15 |
A |
G |
11: 69,546,545 (GRCm39) |
Y116C |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,532,955 (GRCm39) |
S545P |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,930,970 (GRCm39) |
T184N |
possibly damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,773 (GRCm39) |
F228I |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,490 (GRCm39) |
N8408S |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,627 (GRCm39) |
T884P |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,506 (GRCm39) |
L1540H |
probably damaging |
Het |
| Ugt2b37 |
C |
A |
5: 87,399,739 (GRCm39) |
M256I |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,064,739 (GRCm39) |
T49I |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,048 (GRCm39) |
I839L |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,054,797 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
T |
C |
7: 80,688,073 (GRCm39) |
S1000P |
probably damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,838 (GRCm39) |
N261D |
possibly damaging |
Het |
| Zfp957 |
A |
G |
14: 79,450,828 (GRCm39) |
S324P |
unknown |
Het |
| Zswim6 |
G |
T |
13: 107,863,216 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
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'- CGTTGATAATCAGCTTCAGGCC -3'
(R):5'- GAGAATGTGCCTACAGTGCTC -3'
Sequencing Primer
(F):5'- GTTGATAATCAGCTTCAGGCCACTAC -3'
(R):5'- TCACAGACTAGCTTCACGTATGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation