Incidental Mutation 'R1691:Efcab6'
| ID |
191830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
039724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1691 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83817407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 722
(D722G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: D722G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: D722G
| 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: T67A
|
| SMART Domains |
Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441
AA Change: T67A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
44 |
69 |
6e-9 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| 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 |
|---|
| Adamtsl3 |
T |
C |
7: 82,148,814 (GRCm39) |
S283P |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,551,902 (GRCm39) |
L223* |
probably null |
Het |
| Ank |
T |
C |
15: 27,591,030 (GRCm39) |
W390R |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,240,327 (GRCm39) |
Y752H |
probably damaging |
Het |
| Apcs |
T |
A |
1: 172,722,160 (GRCm39) |
D62V |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,358 (GRCm39) |
T482A |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
| Ccdc13 |
A |
T |
9: 121,654,134 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
G |
A |
11: 4,099,030 (GRCm39) |
P159S |
probably benign |
Het |
| Cdhr3 |
C |
T |
12: 33,132,246 (GRCm39) |
V126M |
probably damaging |
Het |
| Cdr1 |
T |
C |
X: 60,227,780 (GRCm39) |
D462G |
possibly damaging |
Het |
| Cisd1 |
A |
G |
10: 71,180,559 (GRCm39) |
V9A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,576,022 (GRCm39) |
R107G |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,536,038 (GRCm39) |
H972Q |
unknown |
Het |
| Col3a1 |
T |
A |
1: 45,387,776 (GRCm39) |
|
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,174 (GRCm39) |
S235G |
probably null |
Het |
| Dock4 |
T |
A |
12: 40,775,754 (GRCm39) |
S566T |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,361,403 (GRCm39) |
Q97R |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,202,678 (GRCm39) |
T132I |
probably damaging |
Het |
| Fgd2 |
C |
T |
17: 29,597,918 (GRCm39) |
Q618* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,441,213 (GRCm39) |
V389E |
probably benign |
Het |
| Garnl3 |
A |
T |
2: 32,887,675 (GRCm39) |
Y778* |
probably null |
Het |
| Gpaa1 |
A |
T |
15: 76,216,416 (GRCm39) |
Y45F |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,286 (GRCm39) |
I643F |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,705,314 (GRCm39) |
D133G |
probably damaging |
Het |
| Hp |
T |
C |
8: 110,302,204 (GRCm39) |
D248G |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifna13 |
T |
C |
4: 88,562,291 (GRCm39) |
D111G |
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,829 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Insyn2a |
C |
T |
7: 134,520,015 (GRCm39) |
A172T |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,754,687 (GRCm39) |
D617E |
probably damaging |
Het |
| Kcnj12 |
A |
T |
11: 60,961,103 (GRCm39) |
N467I |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,669,847 (GRCm39) |
D111E |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,956,559 (GRCm39) |
K1161E |
probably benign |
Het |
| Lamc1 |
C |
T |
1: 153,122,995 (GRCm39) |
D732N |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,874 (GRCm39) |
T517A |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,735,661 (GRCm39) |
I757T |
probably damaging |
Het |
| Max |
T |
C |
12: 77,000,046 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nars1 |
A |
T |
18: 64,649,485 (GRCm39) |
|
probably null |
Het |
| Nipsnap3a |
G |
A |
4: 52,994,185 (GRCm39) |
D91N |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,880,010 (GRCm39) |
T11A |
probably benign |
Het |
| Nr2c2 |
C |
A |
6: 92,133,673 (GRCm39) |
T226K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,469,717 (GRCm39) |
I1288T |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,425,537 (GRCm39) |
T360I |
possibly damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or10a3b |
A |
G |
7: 108,444,348 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Or13a21 |
A |
T |
7: 139,998,855 (GRCm39) |
L277Q |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,288 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Or4k37 |
G |
A |
2: 111,159,198 (GRCm39) |
V145I |
probably benign |
Het |
| Or6d14 |
A |
G |
6: 116,533,538 (GRCm39) |
T51A |
probably benign |
Het |
| Or9i1b |
C |
T |
19: 13,896,783 (GRCm39) |
T133I |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,344 (GRCm39) |
D723G |
possibly damaging |
Het |
| Phrf1 |
C |
A |
7: 140,841,787 (GRCm39) |
Y715* |
probably null |
Het |
| Pigm |
T |
C |
1: 172,204,354 (GRCm39) |
V30A |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,783,158 (GRCm39) |
F721I |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,881,581 (GRCm39) |
D70G |
possibly damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,893,365 (GRCm39) |
I182N |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,922 (GRCm39) |
K49R |
probably benign |
Het |
| Rps6 |
A |
T |
4: 86,775,046 (GRCm39) |
D19E |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,435,292 (GRCm39) |
H669L |
probably benign |
Het |
| Svil |
G |
T |
18: 5,056,336 (GRCm39) |
C490F |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,227 (GRCm39) |
I103T |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,187,791 (GRCm39) |
Y336N |
probably damaging |
Het |
| Trim43c |
G |
T |
9: 88,722,752 (GRCm39) |
V133F |
probably damaging |
Het |
| Tvp23a |
A |
G |
16: 10,246,551 (GRCm39) |
L78P |
possibly damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,991 (GRCm39) |
I14L |
probably benign |
Het |
| Unc5a |
A |
C |
13: 55,150,737 (GRCm39) |
M520L |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,337 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r58 |
C |
T |
7: 41,486,913 (GRCm39) |
G661R |
possibly damaging |
Het |
| Vps41 |
A |
C |
13: 19,025,413 (GRCm39) |
D471A |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,013,489 (GRCm39) |
F1818L |
possibly damaging |
Het |
| Zp3 |
G |
A |
5: 136,009,135 (GRCm39) |
E50K |
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 |
|
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'- CATGGGGATGCCATGCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation