Incidental Mutation 'R6027:Efcab6'
| ID |
480135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
044199-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6027 (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 83851922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 319
(F319L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: F319L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: F319L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,289,003 (GRCm39) |
V2299A |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,303,661 (GRCm39) |
D28G |
probably benign |
Het |
| Adamts6 |
G |
A |
13: 104,616,043 (GRCm39) |
G1035D |
probably damaging |
Het |
| Adamts7 |
A |
C |
9: 90,073,078 (GRCm39) |
Y755S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,791,528 (GRCm39) |
T763A |
possibly damaging |
Het |
| Armc9 |
G |
C |
1: 86,172,389 (GRCm39) |
L105F |
probably damaging |
Het |
| Asah2 |
T |
C |
19: 32,022,351 (GRCm39) |
N228D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Aspm |
T |
G |
1: 139,390,794 (GRCm39) |
V693G |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,965,771 (GRCm39) |
E1141G |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,563,860 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,453,739 (GRCm39) |
D3475N |
unknown |
Het |
| Dctn5 |
T |
C |
7: 121,732,564 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
A |
G |
14: 55,723,580 (GRCm39) |
K18E |
probably benign |
Het |
| Eci2 |
A |
T |
13: 35,169,930 (GRCm39) |
|
probably null |
Het |
| Elane |
A |
T |
10: 79,722,852 (GRCm39) |
H86L |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,893 (GRCm39) |
Y197* |
probably null |
Het |
| Eno4 |
A |
G |
19: 58,935,262 (GRCm39) |
D158G |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,094,977 (GRCm39) |
T170S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,883,950 (GRCm39) |
D517G |
probably damaging |
Het |
| Fkbp3 |
G |
T |
12: 65,120,692 (GRCm39) |
A2E |
possibly damaging |
Het |
| Gan |
A |
G |
8: 117,885,034 (GRCm39) |
Y54C |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,293,531 (GRCm39) |
N194K |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,269,087 (GRCm39) |
T597A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,646 (GRCm39) |
S492P |
possibly damaging |
Het |
| Hmox1 |
C |
A |
8: 75,823,499 (GRCm39) |
H56N |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,037,088 (GRCm39) |
P131S |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,797 (GRCm39) |
|
probably null |
Het |
| Kif1a |
A |
T |
1: 92,953,365 (GRCm39) |
M1274K |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,907,299 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
C |
T |
8: 85,823,381 (GRCm39) |
T905I |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,098,804 (GRCm39) |
H544N |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,208,259 (GRCm39) |
N1933K |
probably benign |
Het |
| Ndst4 |
G |
T |
3: 125,507,025 (GRCm39) |
A730S |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,315,053 (GRCm39) |
Q238* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,965,563 (GRCm39) |
P1716S |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,842 (GRCm39) |
V216A |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k38 |
T |
G |
2: 86,488,148 (GRCm39) |
Y218S |
probably damaging |
Het |
| P2ry6 |
T |
G |
7: 100,587,715 (GRCm39) |
M215L |
probably benign |
Het |
| Parp4 |
G |
A |
14: 56,866,615 (GRCm39) |
E1060K |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,183,509 (GRCm39) |
I822V |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,827,638 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,866,272 (GRCm39) |
G528* |
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,101,762 (GRCm39) |
Q816L |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,220,613 (GRCm38) |
F442L |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,187 (GRCm39) |
Y68H |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,545,274 (GRCm39) |
W458R |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 52,040,064 (GRCm39) |
T309N |
possibly damaging |
Het |
| Rps27a |
T |
C |
11: 29,497,808 (GRCm39) |
|
probably benign |
Het |
| Sarm1 |
T |
A |
11: 78,374,384 (GRCm39) |
M577L |
probably benign |
Het |
| Scin |
T |
C |
12: 40,127,515 (GRCm39) |
Y425C |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 103,997,336 (GRCm39) |
Y395F |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,571,291 (GRCm39) |
Y69* |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,953,761 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
A |
C |
5: 148,270,774 (GRCm39) |
I564S |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,356,179 (GRCm39) |
Y933N |
probably benign |
Het |
| Sp110 |
T |
C |
1: 85,505,039 (GRCm39) |
S438G |
possibly damaging |
Het |
| St8sia4 |
T |
A |
1: 95,581,399 (GRCm39) |
R114S |
probably damaging |
Het |
| Trim11 |
C |
T |
11: 58,869,289 (GRCm39) |
A75V |
possibly damaging |
Het |
| Tufm |
T |
A |
7: 126,086,920 (GRCm39) |
H68Q |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,993,503 (GRCm39) |
D194E |
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 |
|
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 |
|
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'- GAAACCTGTCAAGCAACGATTG -3'
(R):5'- GGAAAACTTGTCAGCTGTGAGC -3'
Sequencing Primer
(F):5'- CCTGTCAAGCAACGATTGGATTC -3'
(R):5'- GTTTGTAGTGAGCTCATCAATTAAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation