Incidental Mutation 'R8031:Efcab6'
| ID |
617979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
067469-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83867699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 260
(K260E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156187
AA Change: K260E
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: K260E
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,888,924 (GRCm39) |
|
probably null |
Het |
| Arhgdib |
A |
G |
6: 136,901,274 (GRCm39) |
Y152H |
probably benign |
Het |
| Atxn10 |
T |
G |
15: 85,277,594 (GRCm39) |
S354A |
probably benign |
Het |
| Cacng6 |
T |
C |
7: 3,473,401 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,784,741 (GRCm39) |
V7A |
unknown |
Het |
| Cdc40 |
T |
A |
10: 40,728,512 (GRCm39) |
E157D |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,575,253 (GRCm39) |
N77K |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,772,295 (GRCm39) |
V2659A |
possibly damaging |
Het |
| Eif4a3 |
T |
C |
11: 119,179,731 (GRCm39) |
Y352C |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,733,649 (GRCm39) |
K566N |
probably damaging |
Het |
| Fam3b |
A |
C |
16: 97,283,052 (GRCm39) |
Y74* |
probably null |
Het |
| Flg2 |
T |
A |
3: 93,127,521 (GRCm39) |
S2144R |
unknown |
Het |
| Fmo4 |
G |
T |
1: 162,626,421 (GRCm39) |
S375* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,817,235 (GRCm39) |
T4323A |
probably benign |
Het |
| Gm16503 |
A |
T |
4: 147,625,767 (GRCm39) |
H87L |
unknown |
Het |
| Hes7 |
C |
T |
11: 69,013,591 (GRCm39) |
A150V |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,132,478 (GRCm39) |
N190I |
probably benign |
Het |
| Il17rc |
A |
G |
6: 113,459,782 (GRCm39) |
D576G |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,200,860 (GRCm39) |
S141T |
possibly damaging |
Het |
| Itga8 |
G |
T |
2: 12,160,297 (GRCm39) |
D840E |
probably benign |
Het |
| Kazn |
T |
C |
4: 141,881,862 (GRCm39) |
E126G |
|
Het |
| Kcnk13 |
A |
G |
12: 99,932,438 (GRCm39) |
Y78C |
probably damaging |
Het |
| Kcnt1 |
C |
A |
2: 25,798,054 (GRCm39) |
|
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,687,374 (GRCm39) |
K160E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,107,747 (GRCm39) |
R585G |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,022,193 (GRCm39) |
I416T |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,972 (GRCm39) |
I125N |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,316 (GRCm39) |
I296N |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,054 (GRCm39) |
N153S |
probably benign |
Het |
| Or8k33 |
G |
A |
2: 86,384,447 (GRCm39) |
T7I |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,941,905 (GRCm39) |
E106G |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,728,442 (GRCm39) |
N233S |
probably damaging |
Het |
| Pgm2l1 |
C |
A |
7: 99,921,625 (GRCm39) |
R619S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,376,230 (GRCm39) |
Q964R |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,776,964 (GRCm39) |
I89F |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Psmd4 |
T |
C |
3: 94,943,203 (GRCm39) |
D67G |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 161,977,377 (GRCm39) |
T307I |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,321,107 (GRCm39) |
C1188* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,267,193 (GRCm39) |
C426Y |
probably damaging |
Het |
| Sacs |
C |
T |
14: 61,441,640 (GRCm39) |
H1229Y |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,311,517 (GRCm39) |
L118Q |
probably damaging |
Het |
| Slc38a6 |
G |
A |
12: 73,397,377 (GRCm39) |
A340T |
probably benign |
Het |
| Smarca5 |
A |
T |
8: 81,431,311 (GRCm39) |
Y969N |
probably damaging |
Het |
| Sorbs1 |
C |
A |
19: 40,314,933 (GRCm39) |
M626I |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,143,303 (GRCm39) |
D753E |
probably benign |
Het |
| Taf1d |
T |
G |
9: 15,221,695 (GRCm39) |
I226S |
probably damaging |
Het |
| Tmem225 |
A |
G |
9: 40,060,689 (GRCm39) |
I83V |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,412,986 (GRCm38) |
D965G |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,429,141 (GRCm39) |
K303E |
probably damaging |
Het |
| Ube2n |
C |
T |
10: 95,377,244 (GRCm39) |
R70C |
probably benign |
Het |
| Ubl7 |
C |
T |
9: 57,830,489 (GRCm39) |
P312S |
probably damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,165 (GRCm39) |
M191K |
probably damaging |
Het |
| Vmn2r103 |
C |
T |
17: 20,013,759 (GRCm39) |
H184Y |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,408 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,604,075 (GRCm39) |
L751P |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,070 (GRCm39) |
I1121N |
not run |
Het |
| Zfp235 |
T |
A |
7: 23,841,114 (GRCm39) |
V511E |
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 |
|
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 |
|
|
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'- CATGGGTATCTCAGCAGTGG -3'
(R):5'- ACAGCAGTATTTCCCATGATCATG -3'
Sequencing Primer
(F):5'- TTCCTTAGGGAAGACCCAC -3'
(R):5'- TCATGTTGTTAAAGGCAGCAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation