Incidental Mutation 'R6166:Efcab6'
| ID |
490168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
044312-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83780316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1039
(V1039A)
|
| 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
AA Change: V1039A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: V1039A
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (57/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
| Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
| Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
| Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
| Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
| Ccdc40 |
T |
C |
11: 119,122,827 (GRCm39) |
S210P |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
| Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,736 (GRCm39) |
K628E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
| Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
| Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
| Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
| Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
| Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
| Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
| Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
| Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,861,306 (GRCm39) |
S661R |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
| Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
| Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
| Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,900,650 (GRCm39) |
R519H |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,215,189 (GRCm39) |
L115P |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
probably 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 |
|
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'- GGGGCTCTTTGCAAACTGTC -3'
(R):5'- TCCTCCTTGTGGTGACATTTTAAG -3'
Sequencing Primer
(F):5'- GGGCTCTTTGCAAACTGTCATACC -3'
(R):5'- CCTCTGCAACTGTTTGTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation