Incidental Mutation 'R4578:Efcab6'
| ID |
343443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
041800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83817369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 735
(S735T)
|
| 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: S735T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: S735T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
| Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
| Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
| Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,849 (GRCm39) |
R202G |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
| Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
| Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
| Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
| Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
| Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,258 (GRCm39) |
E906G |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
| Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
| Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
| Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
| Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
| Iqca1 |
T |
A |
1: 90,001,472 (GRCm39) |
I520F |
probably damaging |
Het |
| Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
| Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
| Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
| Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
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 |
|
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 |
|
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'- TATGTCCCCTGTAGCTACCAG -3'
(R):5'- TACAGAACAGTGCTATGCTGC -3'
Sequencing Primer
(F):5'- GATACCAGAGCTCATGCACGTG -3'
(R):5'- TGCTATGCTGCACCCATGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation