Incidental Mutation 'R6132:Efcab6'
ID |
487202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efcab6
|
Ensembl Gene |
ENSMUSG00000022441 |
Gene Name |
EF-hand calcium binding domain 6 |
Synonyms |
4932408N08Rik, 4931407K02Rik |
MMRRC Submission |
044279-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6132 (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 83917173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 129
(L129P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
AlphaFold |
Q6P1E8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122836
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156187
AA Change: L129P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114909 Gene: ENSMUSG00000022441 AA Change: L129P
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 |
0.6441 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (49/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
Crebrf |
C |
T |
17: 26,982,377 (GRCm39) |
P588S |
probably benign |
Het |
Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
Cyp2c68 |
A |
G |
19: 39,691,858 (GRCm39) |
V355A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
Golph3l |
C |
G |
3: 95,499,145 (GRCm39) |
P96A |
probably benign |
Het |
Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
Grin3b |
T |
C |
10: 79,812,274 (GRCm39) |
L479P |
probably damaging |
Het |
Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
Slf2 |
T |
A |
19: 44,949,300 (GRCm39) |
N870K |
possibly damaging |
Het |
Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
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 |
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'- AGTGAATTGTGGCCGATGAAC -3'
(R):5'- CTTGGTTTAAGTGCGTTCACCG -3'
Sequencing Primer
(F):5'- TTGTGGCCGATGAACAACGC -3'
(R):5'- GGGTGTCTCTGTCTCATCCACAG -3'
|
Posted On |
2017-10-10 |