Incidental Mutation 'R1983:Efcab6'
| ID |
220226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
039995-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1983 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 83777163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144169
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,272 (GRCm39) |
V133E |
probably damaging |
Het |
| Aco1 |
G |
A |
4: 40,175,845 (GRCm39) |
G160S |
probably benign |
Het |
| Actn2 |
C |
T |
13: 12,293,696 (GRCm39) |
R608H |
probably benign |
Het |
| Adora2a |
A |
C |
10: 75,169,480 (GRCm39) |
S315R |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,017,018 (GRCm39) |
Y382C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
A |
G |
4: 99,116,812 (GRCm39) |
Y318C |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,959,828 (GRCm39) |
T1408I |
probably benign |
Het |
| Bbx |
T |
A |
16: 50,029,480 (GRCm39) |
Q663L |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,942,014 (GRCm39) |
D273G |
probably null |
Het |
| Btbd3 |
T |
G |
2: 138,125,608 (GRCm39) |
L264R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,194 (GRCm39) |
I391T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,097 (GRCm39) |
I45V |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,469,123 (GRCm39) |
A1853D |
possibly damaging |
Het |
| Cmas |
G |
T |
6: 142,716,312 (GRCm39) |
D251Y |
probably damaging |
Het |
| Cyp2d10 |
A |
G |
15: 82,290,200 (GRCm39) |
M90T |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,050,341 (GRCm39) |
F714L |
probably benign |
Het |
| Dguok |
A |
T |
6: 83,464,110 (GRCm39) |
Y126* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,603,232 (GRCm39) |
K172E |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,626,682 (GRCm39) |
|
probably null |
Het |
| Eln |
A |
T |
5: 134,765,194 (GRCm39) |
|
probably null |
Het |
| Epor |
T |
C |
9: 21,870,696 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,573,275 (GRCm39) |
E996* |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,191,364 (GRCm39) |
E6D |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,767,374 (GRCm39) |
K146N |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,391,637 (GRCm39) |
S742P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,810,175 (GRCm39) |
V2165L |
probably benign |
Het |
| Gcdh |
A |
T |
8: 85,617,539 (GRCm39) |
V227E |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,183 (GRCm39) |
N336S |
probably benign |
Het |
| Gm12695 |
G |
T |
4: 96,627,214 (GRCm39) |
A399E |
possibly damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,749 (GRCm39) |
V81E |
unknown |
Het |
| Gpr137c |
T |
C |
14: 45,517,428 (GRCm39) |
V388A |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,766,010 (GRCm39) |
T49A |
possibly damaging |
Het |
| Hspa1a |
G |
T |
17: 35,189,938 (GRCm39) |
R322S |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,131,019 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,140,780 (GRCm39) |
R1098G |
probably benign |
Het |
| Kif11 |
C |
T |
19: 37,379,224 (GRCm39) |
T305I |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,546,806 (GRCm39) |
V130E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,416 (GRCm39) |
|
probably null |
Het |
| Mdga1 |
G |
A |
17: 30,069,579 (GRCm39) |
R430C |
probably damaging |
Het |
| Mfsd12 |
T |
A |
10: 81,198,090 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
T |
A |
9: 7,578,898 (GRCm39) |
|
probably null |
Het |
| Mtnr1a |
A |
T |
8: 45,540,471 (GRCm39) |
N144I |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,383,407 (GRCm39) |
T3563A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,940,765 (GRCm39) |
M355L |
probably benign |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or5b104 |
A |
G |
19: 13,072,748 (GRCm39) |
I88T |
probably benign |
Het |
| Or5p51 |
C |
T |
7: 107,444,619 (GRCm39) |
G107D |
probably benign |
Het |
| Or8k27 |
T |
A |
2: 86,275,420 (GRCm39) |
H302L |
probably benign |
Het |
| Parg |
A |
G |
14: 31,939,653 (GRCm39) |
K560E |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,525 (GRCm39) |
|
probably null |
Het |
| Pdcd6 |
T |
C |
13: 74,452,119 (GRCm39) |
I174V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,066 (GRCm39) |
L57S |
probably damaging |
Het |
| Pomgnt1 |
C |
A |
4: 116,009,117 (GRCm39) |
P74Q |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,817 (GRCm39) |
Y146C |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,998,006 (GRCm39) |
M248V |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,837,702 (GRCm39) |
M503K |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,444 (GRCm39) |
V871M |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,758,897 (GRCm39) |
N3427S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,600,288 (GRCm39) |
|
probably null |
Het |
| Scimp |
C |
T |
11: 70,691,540 (GRCm39) |
V30I |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,689 (GRCm39) |
E374G |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,469,652 (GRCm39) |
Y482H |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
| Spopfm2 |
T |
G |
3: 94,083,601 (GRCm39) |
D70A |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,201,518 (GRCm39) |
M1229L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,624,853 (GRCm39) |
T1699K |
possibly damaging |
Het |
| Terf2 |
T |
C |
8: 107,809,640 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tex10 |
A |
T |
4: 48,460,059 (GRCm39) |
L431I |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,902,867 (GRCm39) |
V1470A |
possibly damaging |
Het |
| Ttll13 |
T |
C |
7: 79,903,364 (GRCm39) |
I248T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,619,369 (GRCm39) |
N16031S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,587,104 (GRCm39) |
K21631M |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,322,351 (GRCm39) |
S292C |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,588 (GRCm39) |
M233L |
probably benign |
Het |
| Wdr31 |
A |
T |
4: 62,378,840 (GRCm39) |
M129K |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,914,539 (GRCm39) |
N1754K |
probably damaging |
Het |
| Xirp1 |
G |
A |
9: 119,845,695 (GRCm39) |
Q1063* |
probably null |
Het |
| Zfp799 |
C |
A |
17: 33,041,084 (GRCm39) |
V32L |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,386 (GRCm39) |
D874E |
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 |
|
|
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'- TCCCTGTGAGCTGCTTTGAG -3'
(R):5'- TACACCTTTGCCGTTGACG -3'
Sequencing Primer
(F):5'- AAGGTGCTGAAGTTCTCCAG -3'
(R):5'- TTGACGGCTGCACGACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation