Incidental Mutation 'R7711:Efcab6'
| ID |
594643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
045769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83834125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 494
(D494E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: D494E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: D494E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,886,723 (GRCm39) |
E342K |
possibly damaging |
Het |
| 9430015G10Rik |
T |
G |
4: 156,203,649 (GRCm39) |
V34G |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,437 (GRCm39) |
S44G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,439,555 (GRCm39) |
C613S |
probably benign |
Het |
| Aplp2 |
G |
A |
9: 31,072,645 (GRCm39) |
R488C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,387,095 (GRCm39) |
N1463S |
probably benign |
Het |
| Atxn2l |
A |
T |
7: 126,100,441 (GRCm39) |
L125Q |
probably damaging |
Het |
| Cd3d |
A |
G |
9: 44,897,634 (GRCm39) |
K172E |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,805,234 (GRCm39) |
D764E |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,569,089 (GRCm39) |
I220V |
unknown |
Het |
| Cpq |
T |
C |
15: 33,497,493 (GRCm39) |
I411T |
probably benign |
Het |
| Crybg2 |
C |
A |
4: 133,792,844 (GRCm39) |
H160N |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,513,013 (GRCm39) |
C285S |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,909,365 (GRCm39) |
D1326G |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
| Dnajb4 |
A |
C |
3: 151,892,154 (GRCm39) |
S226R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,819,622 (GRCm39) |
I850N |
possibly damaging |
Het |
| Dtna |
G |
T |
18: 23,758,253 (GRCm39) |
|
probably null |
Het |
| Fam169a |
G |
T |
13: 97,263,196 (GRCm39) |
E550* |
probably null |
Het |
| Fbxw7 |
A |
G |
3: 84,832,988 (GRCm39) |
N10S |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,528 (GRCm39) |
F622S |
probably damaging |
Het |
| Gprc5d |
G |
A |
6: 135,093,355 (GRCm39) |
T184I |
possibly damaging |
Het |
| Grem2 |
A |
G |
1: 174,664,693 (GRCm39) |
V52A |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,327,533 (GRCm39) |
T310N |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,394,770 (GRCm39) |
N51I |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,295,759 (GRCm39) |
D338G |
possibly damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,971 (GRCm39) |
S107P |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,399,191 (GRCm39) |
G451C |
probably benign |
Het |
| Kit |
T |
A |
5: 75,798,019 (GRCm39) |
F436I |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,440,636 (GRCm39) |
C751Y |
probably damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,716,375 (GRCm39) |
G87C |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,309,687 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
G |
T |
11: 103,505,738 (GRCm39) |
Q2077K |
probably benign |
Het |
| Mkln1 |
A |
G |
6: 31,469,584 (GRCm39) |
H598R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,994,774 (GRCm39) |
H344R |
probably benign |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myh7b |
T |
G |
2: 155,462,323 (GRCm39) |
L342R |
probably damaging |
Het |
| Or12e8 |
A |
G |
2: 87,187,871 (GRCm39) |
N28D |
probably benign |
Het |
| Or2h2b-ps1 |
C |
T |
17: 37,480,847 (GRCm39) |
G129R |
probably damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,497 (GRCm39) |
I300K |
probably damaging |
Het |
| Or7e178 |
A |
T |
9: 20,225,319 (GRCm39) |
V299E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,416,444 (GRCm39) |
Y1668F |
possibly damaging |
Het |
| Pfn4 |
C |
T |
12: 4,824,414 (GRCm39) |
T47I |
possibly damaging |
Het |
| Pklr |
T |
C |
3: 89,048,649 (GRCm39) |
L104P |
probably damaging |
Het |
| Plcxd2 |
A |
G |
16: 45,800,693 (GRCm39) |
V177A |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,822 (GRCm39) |
S335G |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,268,528 (GRCm39) |
A826S |
probably damaging |
Het |
| Prrt4 |
A |
G |
6: 29,177,455 (GRCm39) |
S105P |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,334,937 (GRCm39) |
V164E |
probably damaging |
Het |
| Psap |
T |
C |
10: 60,135,634 (GRCm39) |
V360A |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,452,267 (GRCm39) |
|
probably null |
Het |
| Qrfprl |
A |
G |
6: 65,418,357 (GRCm39) |
H23R |
|
Het |
| Rad51 |
A |
G |
2: 118,962,071 (GRCm39) |
Q206R |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,664,874 (GRCm39) |
K277R |
probably benign |
Het |
| Rassf2 |
T |
A |
2: 131,847,297 (GRCm39) |
T103S |
probably benign |
Het |
| Rbm15b |
T |
A |
9: 106,763,142 (GRCm39) |
H342L |
possibly damaging |
Het |
| Rsf1 |
G |
GACCGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,237,909 (GRCm39) |
F561L |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,134,004 (GRCm39) |
A130V |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,531,221 (GRCm39) |
E552G |
probably damaging |
Het |
| Slc39a14 |
T |
A |
14: 70,551,124 (GRCm39) |
R183W |
probably damaging |
Het |
| Slfn1 |
A |
T |
11: 83,012,089 (GRCm39) |
K68N |
possibly damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,914 (GRCm39) |
D303G |
probably damaging |
Het |
| Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,131 (GRCm39) |
R398S |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,066,642 (GRCm39) |
N30K |
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,313,167 (GRCm39) |
I80M |
probably damaging |
Het |
| Tbx19 |
A |
G |
1: 164,966,768 (GRCm39) |
S369P |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,489 (GRCm39) |
H481R |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,990,036 (GRCm39) |
L287P |
probably benign |
Het |
| Zfhx4 |
G |
T |
3: 5,462,016 (GRCm39) |
M1230I |
probably damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,794 (GRCm39) |
C272R |
not run |
Het |
| Zfp458 |
A |
G |
13: 67,407,664 (GRCm39) |
S64P |
possibly 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 |
|
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'- CAGGTGACGTCCTTAATACGC -3'
(R):5'- AAAGCTTTTCCTGCCTTTGAG -3'
Sequencing Primer
(F):5'- GTACCTTGAAACCTCGTG -3'
(R):5'- CCTGCCTTTGAGAATATACAGTTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation