Incidental Mutation 'R7392:Efcab6'
| ID |
573543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
045474-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83873152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 197
(R197L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: R197L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: R197L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,990 (GRCm39) |
F564L |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,797,126 (GRCm39) |
I499T |
probably damaging |
Het |
| Adamts13 |
C |
T |
2: 26,879,336 (GRCm39) |
R630C |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,708,808 (GRCm39) |
F1199I |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,048,115 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 90,516,648 (GRCm39) |
D881G |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,728 (GRCm39) |
S569R |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,953,786 (GRCm39) |
S171P |
possibly damaging |
Het |
| Arhgef11 |
G |
A |
3: 87,624,482 (GRCm39) |
|
probably null |
Het |
| Baz1a |
C |
A |
12: 54,945,550 (GRCm39) |
L1271F |
probably damaging |
Het |
| Bdnf |
A |
C |
2: 109,554,275 (GRCm39) |
K216N |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
| Bnip5 |
A |
T |
17: 29,127,351 (GRCm39) |
D219E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,718,881 (GRCm39) |
I390F |
|
Het |
| Chd8 |
A |
G |
14: 52,470,312 (GRCm39) |
S433P |
probably benign |
Het |
| Clrn2 |
A |
G |
5: 45,621,251 (GRCm39) |
E215G |
possibly damaging |
Het |
| Col19a1 |
T |
G |
1: 24,573,115 (GRCm39) |
D219A |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,878,032 (GRCm39) |
R1036* |
probably null |
Het |
| Copg1 |
T |
A |
6: 87,867,257 (GRCm39) |
V110D |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,692,605 (GRCm39) |
G744D |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,625,252 (GRCm39) |
P63L |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,345,860 (GRCm39) |
D224G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,540,820 (GRCm39) |
E2518G |
probably benign |
Het |
| Efr3b |
T |
A |
12: 4,019,588 (GRCm39) |
Y723F |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,523 (GRCm39) |
N344S |
probably damaging |
Het |
| Erich4 |
A |
G |
7: 25,315,101 (GRCm39) |
I58T |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,338,809 (GRCm39) |
V665A |
probably benign |
Het |
| Etf1 |
G |
A |
18: 35,039,103 (GRCm39) |
T388I |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,652,040 (GRCm39) |
T244A |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,185,844 (GRCm39) |
D1610G |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,932,064 (GRCm39) |
F212L |
probably benign |
Het |
| Fuom |
T |
A |
7: 139,681,073 (GRCm39) |
D85V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,919,993 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
C |
T |
6: 25,688,786 (GRCm39) |
A104T |
probably benign |
Het |
| Hsp90ab1 |
G |
C |
17: 45,879,974 (GRCm39) |
T514S |
probably benign |
Het |
| Ifnl2 |
A |
G |
7: 28,209,094 (GRCm39) |
F74L |
probably benign |
Het |
| Ipo11 |
G |
A |
13: 107,028,199 (GRCm39) |
R367* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,260,838 (GRCm39) |
D963G |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrch3 |
T |
A |
16: 32,807,125 (GRCm39) |
L466* |
probably null |
Het |
| Lrfn5 |
A |
T |
12: 61,887,090 (GRCm39) |
T293S |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,660,199 (GRCm39) |
I955T |
probably damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,111,439 (GRCm39) |
T437M |
probably damaging |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Mapkap1 |
G |
T |
2: 34,325,166 (GRCm39) |
R94L |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,383 (GRCm39) |
L480Q |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,389,627 (GRCm39) |
I3504M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,480,564 (GRCm39) |
C1169S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,396,802 (GRCm39) |
S1455P |
|
Het |
| Niban1 |
A |
G |
1: 151,571,975 (GRCm39) |
T307A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,818,724 (GRCm39) |
D406G |
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,913 (GRCm39) |
I69V |
probably benign |
Het |
| Nthl1 |
G |
A |
17: 24,857,598 (GRCm39) |
V266I |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,352,589 (GRCm39) |
E2G |
possibly damaging |
Het |
| Or5an6 |
G |
T |
19: 12,371,829 (GRCm39) |
L67F |
probably damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,951 (GRCm39) |
T271A |
probably benign |
Het |
| Or5g23 |
A |
C |
2: 85,438,832 (GRCm39) |
C141G |
possibly damaging |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,291 (GRCm39) |
H9Q |
possibly damaging |
Het |
| Or8k25 |
A |
G |
2: 86,243,496 (GRCm39) |
V300A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,192 (GRCm39) |
V226A |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,171 (GRCm39) |
S41R |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,116,436 (GRCm39) |
F1529I |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,992,383 (GRCm39) |
|
probably benign |
Het |
| Qdpr |
T |
C |
5: 45,596,718 (GRCm39) |
M149V |
probably benign |
Het |
| R3hcc1 |
T |
A |
14: 69,943,329 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,041,856 (GRCm39) |
Y392C |
|
Het |
| Slc8a3 |
A |
C |
12: 81,361,577 (GRCm39) |
V414G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,103,003 (GRCm39) |
S54P |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,731,629 (GRCm39) |
V624F |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,936,262 (GRCm39) |
D227G |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Srsf12 |
A |
T |
4: 33,209,265 (GRCm39) |
R62W |
unknown |
Het |
| Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,391,862 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
A |
G |
1: 183,190,095 (GRCm39) |
T66A |
|
Het |
| Tfg |
A |
T |
16: 56,532,972 (GRCm39) |
|
probably null |
Het |
| Trim34b |
A |
G |
7: 103,985,604 (GRCm39) |
N413S |
probably benign |
Het |
| Txndc15 |
T |
A |
13: 55,869,399 (GRCm39) |
M184K |
probably damaging |
Het |
| Umodl1 |
A |
C |
17: 31,201,306 (GRCm39) |
S412R |
probably damaging |
Het |
| Zbtb8b |
T |
A |
4: 129,326,683 (GRCm39) |
M161L |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,684,369 (GRCm39) |
V129E |
probably benign |
Het |
| Zfp790 |
T |
C |
7: 29,528,050 (GRCm39) |
I245T |
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 |
|
|
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 |
|
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'- CAGTGTCCAAAATGAAGCCTAGG -3'
(R):5'- AGATGTCATTGTGCAATGTGTACTG -3'
Sequencing Primer
(F):5'- GCCTAGGAGAGAGCTACCG -3'
(R):5'- GAAAGCCTCTCCACATTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation