Incidental Mutation 'R9383:Efcab6'
| ID |
710175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83756620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1240
(E1240G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156187
AA Change: E1240G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: E1240G
| 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: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,661,162 (GRCm39) |
E124G |
|
Het |
| Atp1a2 |
T |
C |
1: 172,107,334 (GRCm39) |
I729V |
probably benign |
Het |
| Ccn2 |
T |
G |
10: 24,471,883 (GRCm39) |
V58G |
possibly damaging |
Het |
| Chd2 |
T |
A |
7: 73,098,918 (GRCm39) |
E1467V |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,803,110 (GRCm39) |
D1285G |
unknown |
Het |
| Coro7 |
A |
G |
16: 4,452,888 (GRCm39) |
C287R |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,283,045 (GRCm39) |
E134G |
probably benign |
Het |
| Csf3r |
C |
T |
4: 125,937,239 (GRCm39) |
P708S |
possibly damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,646,819 (GRCm39) |
I1070K |
probably benign |
Het |
| Dnm2 |
G |
A |
9: 21,383,920 (GRCm39) |
V234M |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,350,287 (GRCm39) |
M82K |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,776,950 (GRCm39) |
E312K |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Gpnmb |
A |
G |
6: 49,028,918 (GRCm39) |
S479G |
probably damaging |
Het |
| Gpr153 |
T |
C |
4: 152,367,516 (GRCm39) |
S456P |
probably benign |
Het |
| Gprc5b |
A |
T |
7: 118,575,761 (GRCm39) |
M388K |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,227 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,684,883 (GRCm39) |
E244G |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,700,012 (GRCm39) |
C620S |
unknown |
Het |
| Maz |
G |
A |
7: 126,624,083 (GRCm39) |
Q358* |
probably null |
Het |
| Mcc |
A |
T |
18: 44,575,985 (GRCm39) |
I901N |
probably benign |
Het |
| Megf11 |
T |
G |
9: 64,545,732 (GRCm39) |
C172G |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,352,820 (GRCm39) |
Y53C |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,213,251 (GRCm39) |
T391I |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,918 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
A |
G |
4: 115,891,473 (GRCm39) |
V302A |
probably benign |
Het |
| Odf2 |
T |
A |
2: 29,791,249 (GRCm39) |
L181H |
probably damaging |
Het |
| Opn1sw |
A |
G |
6: 29,378,000 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,854 (GRCm39) |
I17T |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,827,742 (GRCm39) |
Y712* |
probably null |
Het |
| Pkd1 |
C |
T |
17: 24,794,900 (GRCm39) |
R2196C |
probably damaging |
Het |
| Pkd1l3 |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA |
8: 110,350,601 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,359,612 (GRCm39) |
M385K |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,438,892 (GRCm39) |
V164A |
possibly damaging |
Het |
| Prr19 |
T |
A |
7: 25,002,335 (GRCm39) |
F11Y |
probably damaging |
Het |
| Prtg |
G |
T |
9: 72,757,143 (GRCm39) |
L355F |
probably benign |
Het |
| Raph1 |
C |
A |
1: 60,564,829 (GRCm39) |
M219I |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,839,094 (GRCm39) |
D140G |
possibly damaging |
Het |
| Serpina5 |
T |
C |
12: 104,070,131 (GRCm39) |
S343P |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,889,125 (GRCm39) |
K466R |
probably benign |
Het |
| Slc43a1 |
G |
A |
2: 84,690,506 (GRCm39) |
V518M |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,749 (GRCm39) |
L125P |
probably damaging |
Het |
| Slc4a7 |
C |
A |
14: 14,766,803 (GRCm38) |
C585* |
probably null |
Het |
| Snx19 |
A |
G |
9: 30,347,196 (GRCm39) |
E713G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,655,561 (GRCm39) |
V715M |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,278,043 (GRCm39) |
M322L |
probably benign |
Het |
| Top2a |
G |
A |
11: 98,901,884 (GRCm39) |
R449* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,796,474 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
A |
C |
13: 23,219,095 (GRCm39) |
R196S |
probably benign |
Het |
| Vmn1r43 |
A |
T |
6: 89,846,552 (GRCm39) |
H311Q |
possibly damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,247,009 (GRCm39) |
T308A |
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,354,479 (GRCm39) |
Y99N |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,355 (GRCm39) |
Y277C |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,503 (GRCm39) |
H345Y |
possibly damaging |
Het |
| Zyg11a |
T |
C |
4: 108,046,926 (GRCm39) |
E516G |
probably 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 |
|
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 |
|
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'- GTGATTTCAACCCCACTCTGGAG -3'
(R):5'- TAGAGCCGTCTATCCTGAGACC -3'
Sequencing Primer
(F):5'- ACTCTGGAGTCCCGAGGTG -3'
(R):5'- CGTCTATCCTGAGACCAAATGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation