Incidental Mutation 'R2271:Efcab6'
ID |
242509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab6
|
Ensembl Gene |
ENSMUSG00000022441 |
Gene Name |
EF-hand calcium binding domain 6 |
Synonyms |
4932408N08Rik, 4931407K02Rik |
MMRRC Submission |
040271-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2271 (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 A
at 83831200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 571
(R571S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
AlphaFold |
Q6P1E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: R571S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114909 Gene: ENSMUSG00000022441 AA Change: R571S
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: 97.3%
- 20x: 95.1%
|
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 |
2310057J18Rik |
T |
A |
10: 28,857,575 (GRCm39) |
Q194L |
probably damaging |
Het |
Acsf2 |
T |
A |
11: 94,449,699 (GRCm39) |
K574* |
probably null |
Het |
Adam22 |
T |
C |
5: 8,171,108 (GRCm39) |
E614G |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,889,083 (GRCm39) |
|
probably null |
Het |
Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
Bcan |
T |
A |
3: 87,900,401 (GRCm39) |
S611C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,909,966 (GRCm39) |
V1453A |
probably benign |
Het |
Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,604,719 (GRCm39) |
D40Y |
probably benign |
Het |
Ccdc83 |
C |
T |
7: 89,873,285 (GRCm39) |
V357I |
probably damaging |
Het |
Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,923,322 (GRCm39) |
V45A |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,785,532 (GRCm39) |
D612G |
probably damaging |
Het |
Chst11 |
T |
C |
10: 83,027,004 (GRCm39) |
Y144H |
probably damaging |
Het |
Cops6 |
A |
T |
5: 138,159,403 (GRCm39) |
N10I |
probably benign |
Het |
Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
Cyp27a1 |
A |
G |
1: 74,775,846 (GRCm39) |
N344D |
probably damaging |
Het |
Des |
T |
G |
1: 75,340,137 (GRCm39) |
M348R |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,238,165 (GRCm39) |
D109V |
probably damaging |
Het |
Disp3 |
C |
T |
4: 148,356,059 (GRCm39) |
R267Q |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,574,352 (GRCm39) |
I2136F |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,188 (GRCm39) |
D872G |
probably benign |
Het |
Dnajb14 |
G |
A |
3: 137,591,141 (GRCm39) |
G31S |
probably benign |
Het |
Dop1a |
T |
G |
9: 86,376,471 (GRCm39) |
V235G |
probably damaging |
Het |
Emsy |
T |
G |
7: 98,275,830 (GRCm39) |
K352N |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,238,047 (GRCm39) |
N814S |
probably damaging |
Het |
Fgfbp1 |
T |
A |
5: 44,136,672 (GRCm39) |
M207L |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,212 (GRCm39) |
E469G |
probably damaging |
Het |
Garem2 |
T |
G |
5: 30,321,972 (GRCm39) |
L777R |
probably damaging |
Het |
Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,253,677 (GRCm39) |
T35A |
probably benign |
Het |
Hps6 |
C |
T |
19: 45,994,121 (GRCm39) |
A686V |
possibly damaging |
Het |
Irs1 |
T |
C |
1: 82,266,180 (GRCm39) |
S679G |
probably benign |
Het |
Ism1 |
T |
A |
2: 139,599,293 (GRCm39) |
I415N |
probably damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
Mocs1 |
A |
T |
17: 49,756,137 (GRCm39) |
K198M |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msh5 |
A |
G |
17: 35,263,366 (GRCm39) |
I154T |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,217,423 (GRCm39) |
T2417S |
possibly damaging |
Het |
Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
Neu3 |
G |
C |
7: 99,462,650 (GRCm39) |
R358G |
probably benign |
Het |
Ntrk3 |
A |
C |
7: 78,166,471 (GRCm39) |
|
probably null |
Het |
Or1n1 |
G |
A |
2: 36,749,637 (GRCm39) |
S241F |
probably damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
Or8j3 |
A |
G |
2: 86,028,161 (GRCm39) |
F312L |
probably benign |
Het |
Pik3c2b |
T |
C |
1: 133,031,166 (GRCm39) |
S1491P |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,450,586 (GRCm39) |
D376Y |
probably damaging |
Het |
Plch1 |
T |
A |
3: 63,651,956 (GRCm39) |
K378N |
probably damaging |
Het |
Plekhm1 |
C |
T |
11: 103,277,948 (GRCm39) |
E383K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,931,776 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,189 (GRCm39) |
V946E |
probably damaging |
Het |
Psma5-ps |
A |
G |
10: 85,149,595 (GRCm39) |
|
noncoding transcript |
Het |
Ptprh |
C |
A |
7: 4,606,132 (GRCm39) |
|
probably benign |
Het |
Rngtt |
T |
A |
4: 33,500,302 (GRCm39) |
C565* |
probably null |
Het |
Sacs |
A |
G |
14: 61,442,109 (GRCm39) |
H1385R |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,607,277 (GRCm39) |
S656P |
possibly damaging |
Het |
Serpinb13 |
A |
T |
1: 106,926,756 (GRCm39) |
I251L |
possibly damaging |
Het |
Shc1 |
G |
A |
3: 89,330,849 (GRCm39) |
G91S |
probably damaging |
Het |
Sin3b |
T |
A |
8: 73,460,047 (GRCm39) |
N211K |
probably benign |
Het |
Slc22a2 |
A |
T |
17: 12,805,692 (GRCm39) |
M148L |
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,371,220 (GRCm39) |
V591I |
probably benign |
Het |
Slc47a2 |
A |
T |
11: 61,219,352 (GRCm39) |
|
probably null |
Het |
Spag17 |
C |
T |
3: 100,014,113 (GRCm39) |
P2129S |
probably damaging |
Het |
Specc1l |
C |
T |
10: 75,081,438 (GRCm39) |
S278F |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,234,942 (GRCm39) |
D1628V |
probably damaging |
Het |
Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,675 (GRCm39) |
K445E |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,373,473 (GRCm39) |
E232G |
possibly damaging |
Het |
Usp25 |
T |
A |
16: 76,873,317 (GRCm39) |
F458L |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,091,088 (GRCm39) |
T227A |
probably damaging |
Het |
Zcchc12 |
C |
T |
X: 35,462,118 (GRCm39) |
T345M |
possibly damaging |
Het |
Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,040,777 (GRCm39) |
Y58H |
probably damaging |
Het |
Zfp938 |
C |
T |
10: 82,061,381 (GRCm39) |
G413D |
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 |
|
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'- ATGCAAGCTAGGGGACTGTC -3'
(R):5'- TCCTGGACACTTGAGATTGAGC -3'
Sequencing Primer
(F):5'- GGGGACTGTCCTCTCTAATTGAC -3'
(R):5'- ATTGTTCTTACAGAGGACCTGAG -3'
|
Posted On |
2014-10-16 |