Incidental Mutation 'R8869:Efcab6'
| ID |
676157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83928432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 54
(S54L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156187
AA Change: S54L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: S54L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
A |
19: 55,266,523 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,054,690 (GRCm39) |
V980I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,013,007 (GRCm39) |
C1895S |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,614,729 (GRCm39) |
D55E |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,809,280 (GRCm39) |
D255G |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,097,425 (GRCm39) |
D1224E |
possibly damaging |
Het |
| Ces2f |
C |
A |
8: 105,676,704 (GRCm39) |
P133T |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,460,505 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Clock |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
5: 76,374,889 (GRCm39) |
|
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,096 (GRCm39) |
I67F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,448,656 (GRCm39) |
I84V |
|
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhdh |
G |
T |
7: 45,137,536 (GRCm39) |
N50K |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,671,504 (GRCm39) |
E1631V |
probably damaging |
Het |
| Dusp23 |
A |
G |
1: 172,460,293 (GRCm39) |
C53R |
possibly damaging |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Gfap |
G |
C |
11: 102,787,810 (GRCm39) |
A45G |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,363,752 (GRCm39) |
V588M |
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,926,911 (GRCm39) |
T263A |
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,992,832 (GRCm39) |
|
probably null |
Het |
| Inhca |
T |
C |
9: 103,149,831 (GRCm39) |
Y242C |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,570,368 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,997,366 (GRCm39) |
V1728A |
probably benign |
Het |
| Nxph2 |
T |
A |
2: 23,290,071 (GRCm39) |
V141D |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,515,994 (GRCm39) |
E106G |
unknown |
Het |
| Or2t26 |
A |
T |
11: 49,039,483 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,596 (GRCm39) |
S312T |
possibly damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,892 (GRCm39) |
N329I |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,753 (GRCm39) |
|
probably null |
Het |
| Or5h25 |
A |
G |
16: 58,930,121 (GRCm39) |
V284A |
|
Het |
| Or5w10 |
A |
T |
2: 87,375,753 (GRCm39) |
M45K |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,142 (GRCm39) |
N90S |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,578,325 (GRCm39) |
I108F |
probably benign |
Het |
| Pcdha4 |
A |
T |
18: 37,086,011 (GRCm39) |
R65* |
probably null |
Het |
| Pde11a |
T |
C |
2: 76,041,434 (GRCm39) |
H412R |
probably benign |
Het |
| Peli3 |
C |
T |
19: 4,982,541 (GRCm39) |
G375S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,561,927 (GRCm39) |
|
probably null |
Het |
| Prcp |
T |
C |
7: 92,559,518 (GRCm39) |
V194A |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,370 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,887 (GRCm39) |
S61T |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,469 (GRCm39) |
R432H |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,101 (GRCm39) |
N88I |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,359,780 (GRCm39) |
L230F |
probably damaging |
Het |
| Slco1a8 |
A |
G |
6: 141,927,810 (GRCm39) |
V548A |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,301 (GRCm39) |
L65P |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,933,722 (GRCm39) |
Y1083H |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,986,386 (GRCm39) |
S241P |
probably damaging |
Het |
| Tmed6 |
A |
C |
8: 107,792,164 (GRCm39) |
L27R |
probably damaging |
Het |
| Tmem52 |
G |
A |
4: 155,553,788 (GRCm39) |
C32Y |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,750,834 (GRCm39) |
G1022* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,345 (GRCm39) |
S5085G |
unknown |
Het |
| Vmn2r37 |
C |
T |
7: 9,209,854 (GRCm39) |
V553M |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,123,210 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,602,510 (GRCm39) |
C485S |
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 |
|
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 |
|
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'- TCTGAGGAAAGTGGCTTGAG -3'
(R):5'- CGACTCAGTGTTCCCCTTAAG -3'
Sequencing Primer
(F):5'- TGAGGGCCCATTTCTGCAC -3'
(R):5'- GACTCAGTGTTCCCCTTAAGAATGG -3'
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| Posted On |
2021-07-15 |
Incidental Mutation