Incidental Mutation 'R0648:Efcab6'
| ID |
57375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
038833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0648 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 83817265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
| 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 |
probably benign
Transcript: ENSMUST00000163773
|
| SMART Domains |
Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
44 |
69 |
6e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,184,632 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Acta2 |
T |
C |
19: 34,225,934 (GRCm39) |
I87V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,515 (GRCm39) |
Y1560H |
unknown |
Het |
| Bcor |
C |
T |
X: 11,925,290 (GRCm39) |
R102Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,232,057 (GRCm39) |
D179E |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,095,723 (GRCm39) |
S1792P |
possibly damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,283,426 (GRCm39) |
S46T |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,322,853 (GRCm39) |
Q651P |
probably damaging |
Het |
| Cdc73 |
T |
C |
1: 143,571,200 (GRCm39) |
T80A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,337 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
G |
A |
3: 134,935,843 (GRCm39) |
G426D |
probably damaging |
Het |
| Cenpt |
A |
G |
8: 106,571,592 (GRCm39) |
V487A |
probably damaging |
Het |
| Clec2m |
A |
G |
6: 129,307,932 (GRCm39) |
F46L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,296,892 (GRCm39) |
P84S |
unknown |
Het |
| Dennd2d |
A |
G |
3: 106,407,871 (GRCm39) |
I450M |
probably damaging |
Het |
| Dhps |
C |
A |
8: 85,799,911 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,882,337 (GRCm39) |
H431L |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,237,190 (GRCm39) |
H990R |
probably damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,992,459 (GRCm39) |
T303A |
probably benign |
Het |
| Fam167b |
T |
C |
4: 129,472,150 (GRCm39) |
K7E |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,450,049 (GRCm39) |
I67V |
probably benign |
Het |
| Fhip1a |
A |
C |
3: 85,637,921 (GRCm39) |
V126G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,636,744 (GRCm39) |
V2045D |
possibly damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,047 (GRCm39) |
N154Y |
probably benign |
Het |
| H2bc21 |
A |
G |
3: 96,128,851 (GRCm39) |
S124G |
probably benign |
Het |
| Haus8 |
C |
A |
8: 71,709,174 (GRCm39) |
G79V |
probably damaging |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,836 (GRCm39) |
L79Q |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,665 (GRCm39) |
Y83H |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,865,372 (GRCm39) |
T2929A |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,536,307 (GRCm39) |
S199P |
probably benign |
Het |
| Moap1 |
T |
C |
12: 102,708,776 (GRCm39) |
T258A |
probably benign |
Het |
| Mrps35 |
C |
A |
6: 146,957,443 (GRCm39) |
S156* |
probably null |
Het |
| Mrtfa |
A |
G |
15: 80,901,121 (GRCm39) |
S457P |
probably damaging |
Het |
| Mtbp |
C |
T |
15: 55,466,597 (GRCm39) |
P537S |
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,895,454 (GRCm39) |
V565F |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,474 (GRCm39) |
N1536S |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,905 (GRCm39) |
Q103R |
possibly damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,706 (GRCm39) |
N383K |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,269 (GRCm39) |
V127I |
probably benign |
Het |
| Or6c33 |
A |
G |
10: 129,853,350 (GRCm39) |
N40S |
probably damaging |
Het |
| Parp1 |
C |
T |
1: 180,428,005 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,911 (GRCm39) |
R4125H |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,970,962 (GRCm39) |
I269V |
possibly damaging |
Het |
| Polr1f |
C |
T |
12: 33,487,999 (GRCm39) |
Q305* |
probably null |
Het |
| Ppp1r36dn |
A |
G |
12: 76,498,070 (GRCm39) |
|
noncoding transcript |
Het |
| Qrich1 |
T |
A |
9: 108,422,076 (GRCm39) |
N563K |
probably damaging |
Het |
| Rab3il1 |
TGAAG |
TGAAGAAG |
19: 10,004,752 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
G |
A |
5: 64,082,088 (GRCm39) |
T271M |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,412,016 (GRCm39) |
|
probably null |
Het |
| Rph3a |
C |
T |
5: 121,097,333 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,219 (GRCm39) |
M2161K |
possibly damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,339 (GRCm39) |
N1075S |
possibly damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,938 (GRCm39) |
D37G |
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,635 (GRCm39) |
V217A |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,810,045 (GRCm39) |
D506G |
probably benign |
Het |
| Skap2 |
A |
C |
6: 51,856,765 (GRCm39) |
V279G |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Slc9a7 |
A |
T |
X: 20,028,659 (GRCm39) |
|
probably benign |
Het |
| Snai3 |
G |
T |
8: 123,181,733 (GRCm39) |
F241L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,622 (GRCm39) |
S2805P |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,132,864 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
C |
T |
5: 122,389,761 (GRCm39) |
E254K |
probably benign |
Het |
| Tdrd3 |
C |
T |
14: 87,709,618 (GRCm39) |
T100M |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,215 (GRCm39) |
V132A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,123,972 (GRCm39) |
|
probably null |
Het |
| Tigit |
T |
A |
16: 43,482,401 (GRCm39) |
Y111F |
probably damaging |
Het |
| Tmem245 |
A |
G |
4: 56,906,270 (GRCm39) |
I148T |
probably benign |
Het |
| Tmem97 |
A |
G |
11: 78,441,365 (GRCm39) |
Y39H |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,474 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,188 (GRCm39) |
V846A |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,169,210 (GRCm39) |
I259S |
probably damaging |
Het |
| Ubxn1 |
G |
A |
19: 8,851,612 (GRCm39) |
R215H |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,460 (GRCm39) |
F253L |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,782 (GRCm39) |
M723V |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,728,031 (GRCm39) |
V14A |
possibly damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,986,294 (GRCm39) |
|
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,812,862 (GRCm39) |
M322K |
possibly damaging |
Het |
| Zdhhc14 |
C |
A |
17: 5,543,877 (GRCm39) |
N52K |
probably benign |
Het |
| Zfp42 |
A |
G |
8: 43,749,015 (GRCm39) |
V162A |
probably benign |
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 |
|
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 |
|
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'- GGATCACAGTTAGGCTCCACAACC -3'
(R):5'- AGAACAGTGCTATGCTGCACCC -3'
Sequencing Primer
(F):5'- GTTAGGCTCCACAACCTAAGGTC -3'
(R):5'- TCTCTCAACCAGGTTTCAGAAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation