Incidental Mutation 'PIT4445001:Efcab6'
| ID |
555428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4931407K02Rik, 4932408N08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4445001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83866712-84065379 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83904267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 942
(V942D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: V942D
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: V942D
| 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: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 110,075,551 (GRCm38) |
K419E |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,509,748 (GRCm38) |
K587N |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,771,460 (GRCm38) |
M382V |
|
Het |
| Agpat3 |
A |
T |
10: 78,274,093 (GRCm38) |
F341I |
possibly damaging |
Het |
| Ampd2 |
A |
T |
3: 108,075,012 (GRCm38) |
L767Q |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 67,896,235 (GRCm38) |
D124E |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,260,856 (GRCm38) |
L1644P |
probably damaging |
Het |
| Asic4 |
T |
C |
1: 75,451,127 (GRCm38) |
V99A |
probably benign |
Het |
| Asns |
T |
A |
6: 7,689,277 (GRCm38) |
N75I |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,803,467 (GRCm38) |
D798G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,622,660 (GRCm38) |
V1145A |
|
Het |
| BC017158 |
A |
G |
7: 128,276,534 (GRCm38) |
V243A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,661,747 (GRCm38) |
Q577R |
probably damaging |
Het |
| Cd247 |
T |
A |
1: 165,861,036 (GRCm38) |
D154E |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,476,456 (GRCm38) |
N104K |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,151,677 (GRCm38) |
D312G |
possibly damaging |
Het |
| Ddb1 |
C |
A |
19: 10,625,970 (GRCm38) |
L881I |
probably damaging |
Het |
| Dgkh |
A |
T |
14: 78,575,942 (GRCm38) |
I1032N |
possibly damaging |
Het |
| Fmo5 |
A |
G |
3: 97,651,528 (GRCm38) |
T435A |
probably benign |
Het |
| Fpr1 |
T |
C |
17: 17,876,893 (GRCm38) |
Q278R |
probably benign |
Het |
| Fzr1 |
C |
T |
10: 81,369,394 (GRCm38) |
W256* |
probably null |
Het |
| Gabrb1 |
T |
C |
5: 72,108,782 (GRCm38) |
S261P |
probably damaging |
Het |
| Galr2 |
G |
T |
11: 116,281,648 (GRCm38) |
A55S |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,637,466 (GRCm38) |
K581N |
probably benign |
Het |
| Gm7682 |
T |
G |
5: 94,448,507 (GRCm38) |
W468G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,185,838 (GRCm38) |
Y89F |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,302,304 (GRCm38) |
I26N |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 68,207,463 (GRCm38) |
F1058L |
probably damaging |
Het |
| Ighv1-16 |
A |
C |
12: 114,666,060 (GRCm38) |
C36G |
probably benign |
Het |
| Igll1 |
T |
C |
16: 16,860,919 (GRCm38) |
T176A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,385,345 (GRCm38) |
T143A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,793,115 (GRCm38) |
K103* |
probably null |
Het |
| Mphosph9 |
A |
G |
5: 124,298,790 (GRCm38) |
I497T |
possibly damaging |
Het |
| Mrgpra3 |
G |
A |
7: 47,590,160 (GRCm38) |
T6I |
possibly damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,132,558 (GRCm38) |
|
probably null |
Het |
| Myo3a |
A |
T |
2: 22,542,415 (GRCm38) |
E813V |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,959,466 (GRCm38) |
Q2093K |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,962,352 (GRCm38) |
K1851R |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,984,999 (GRCm38) |
D339V |
probably benign |
Het |
| Pcdhb6 |
C |
A |
18: 37,335,247 (GRCm38) |
P407Q |
possibly damaging |
Het |
| Plch2 |
C |
A |
4: 155,009,026 (GRCm38) |
R153L |
probably damaging |
Het |
| Plppr4 |
G |
A |
3: 117,360,308 (GRCm38) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,777 (GRCm38) |
F1046S |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,755,691 (GRCm38) |
L107M |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,481,020 (GRCm38) |
|
probably null |
Het |
| Rasl11b |
C |
A |
5: 74,197,333 (GRCm38) |
P88Q |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,721,149 (GRCm38) |
E503G |
possibly damaging |
Het |
| Rnf216 |
T |
A |
5: 143,086,003 (GRCm38) |
K407N |
probably damaging |
Het |
| Scrn3 |
G |
A |
2: 73,318,329 (GRCm38) |
M81I |
possibly damaging |
Het |
| Scube2 |
T |
C |
7: 109,809,180 (GRCm38) |
T687A |
probably benign |
Het |
| Serpinb10 |
T |
A |
1: 107,535,998 (GRCm38) |
F3L |
probably benign |
Het |
| Sgcb |
C |
T |
5: 73,639,812 (GRCm38) |
V202I |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,689,654 (GRCm38) |
V429A |
possibly damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,153,164 (GRCm38) |
V574A |
probably benign |
Het |
| Sncaip |
T |
C |
18: 52,868,944 (GRCm38) |
L179S |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,312,572 (GRCm38) |
D58E |
probably damaging |
Het |
| Taar3 |
T |
C |
10: 23,949,688 (GRCm38) |
I44T |
possibly damaging |
Het |
| Tmem87b |
G |
A |
2: 128,831,471 (GRCm38) |
V227I |
probably benign |
Het |
| Tnfsf9 |
T |
C |
17: 57,105,517 (GRCm38) |
L29P |
possibly damaging |
Het |
| Tnip2 |
T |
C |
5: 34,496,871 (GRCm38) |
H391R |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,997,807 (GRCm38) |
Y125H |
|
Het |
| Ttc23 |
T |
G |
7: 67,667,213 (GRCm38) |
I77M |
probably damaging |
Het |
| Ube2l3 |
T |
C |
16: 17,160,172 (GRCm38) |
N43S |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,666,211 (GRCm38) |
C142* |
probably null |
Het |
| Vmn2r15 |
A |
C |
5: 109,287,142 (GRCm38) |
D565E |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,715,226 (GRCm38) |
|
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 87,002,200 (GRCm38) |
D269V |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,425,703 (GRCm38) |
M255K |
probably benign |
Het |
| Wfdc6a |
T |
A |
2: 164,579,826 (GRCm38) |
*137C |
probably null |
Het |
| Wipi2 |
T |
C |
5: 142,666,884 (GRCm38) |
V417A |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,509,772 (GRCm38) |
V786L |
possibly damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,795,949 (GRCm38) |
G26S |
probably benign |
Het |
| Zscan25 |
T |
A |
5: 145,290,612 (GRCm38) |
V362D |
probably damaging |
Het |
|
| Other mutations in Efcab6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Efcab6
|
APN |
15 |
84,018,642 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL00946:Efcab6
|
APN |
15 |
84,018,696 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01063:Efcab6
|
APN |
15 |
84,054,512 (GRCm38) |
start codon destroyed |
probably null |
0.53 |
|
IGL01330:Efcab6
|
APN |
15 |
84,044,300 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL01372:Efcab6
|
APN |
15 |
84,044,304 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL01644:Efcab6
|
APN |
15 |
84,033,072 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02175:Efcab6
|
APN |
15 |
83,896,100 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02449:Efcab6
|
APN |
15 |
84,010,033 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02514:Efcab6
|
APN |
15 |
83,871,311 (GRCm38) |
splice site |
probably benign |
|
|
IGL02514:Efcab6
|
APN |
15 |
84,032,942 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02538:Efcab6
|
APN |
15 |
84,054,521 (GRCm38) |
start gained |
probably benign |
|
|
IGL02623:Efcab6
|
APN |
15 |
83,879,448 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02735:Efcab6
|
APN |
15 |
83,899,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03139:Efcab6
|
APN |
15 |
83,952,221 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL03274:Efcab6
|
APN |
15 |
83,868,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03400:Efcab6
|
APN |
15 |
83,867,045 (GRCm38) |
utr 3 prime |
probably benign |
|
|
P0045:Efcab6
|
UTSW |
15 |
83,918,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Efcab6
|
UTSW |
15 |
83,973,313 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4618001:Efcab6
|
UTSW |
15 |
83,983,446 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0520:Efcab6
|
UTSW |
15 |
83,950,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0575:Efcab6
|
UTSW |
15 |
83,967,700 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0648:Efcab6
|
UTSW |
15 |
83,933,064 (GRCm38) |
splice site |
probably benign |
|
|
R0894:Efcab6
|
UTSW |
15 |
83,918,292 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0975:Efcab6
|
UTSW |
15 |
83,973,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1238:Efcab6
|
UTSW |
15 |
83,933,137 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1625:Efcab6
|
UTSW |
15 |
83,947,638 (GRCm38) |
missense |
probably benign |
|
|
R1651:Efcab6
|
UTSW |
15 |
83,870,993 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1691:Efcab6
|
UTSW |
15 |
83,933,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1844:Efcab6
|
UTSW |
15 |
83,967,621 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1929:Efcab6
|
UTSW |
15 |
83,892,962 (GRCm38) |
splice site |
probably benign |
|
|
R1983:Efcab6
|
UTSW |
15 |
83,892,962 (GRCm38) |
splice site |
probably benign |
|
|
R2100:Efcab6
|
UTSW |
15 |
83,892,967 (GRCm38) |
splice site |
probably null |
|
|
R2271:Efcab6
|
UTSW |
15 |
83,946,999 (GRCm38) |
missense |
probably benign |
|
|
R2329:Efcab6
|
UTSW |
15 |
83,950,048 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3618:Efcab6
|
UTSW |
15 |
83,950,069 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3687:Efcab6
|
UTSW |
15 |
83,871,278 (GRCm38) |
nonsense |
probably null |
|
|
R3688:Efcab6
|
UTSW |
15 |
83,871,278 (GRCm38) |
nonsense |
probably null |
|
|
R4212:Efcab6
|
UTSW |
15 |
83,892,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4223:Efcab6
|
UTSW |
15 |
83,867,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4459:Efcab6
|
UTSW |
15 |
83,904,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4578:Efcab6
|
UTSW |
15 |
83,933,168 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4600:Efcab6
|
UTSW |
15 |
83,946,925 (GRCm38) |
missense |
probably benign |
|
|
R5174:Efcab6
|
UTSW |
15 |
84,054,486 (GRCm38) |
missense |
probably benign |
|
|
R5260:Efcab6
|
UTSW |
15 |
83,945,123 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5576:Efcab6
|
UTSW |
15 |
83,950,000 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5718:Efcab6
|
UTSW |
15 |
83,904,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5797:Efcab6
|
UTSW |
15 |
83,924,277 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6027:Efcab6
|
UTSW |
15 |
83,967,721 (GRCm38) |
missense |
probably benign |
|
|
R6110:Efcab6
|
UTSW |
15 |
83,879,634 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6132:Efcab6
|
UTSW |
15 |
84,032,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6166:Efcab6
|
UTSW |
15 |
83,896,115 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6228:Efcab6
|
UTSW |
15 |
83,967,624 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6341:Efcab6
|
UTSW |
15 |
83,935,938 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6445:Efcab6
|
UTSW |
15 |
83,868,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6494:Efcab6
|
UTSW |
15 |
84,044,322 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6611:Efcab6
|
UTSW |
15 |
83,892,835 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7392:Efcab6
|
UTSW |
15 |
83,988,951 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7599:Efcab6
|
UTSW |
15 |
83,870,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7711:Efcab6
|
UTSW |
15 |
83,949,924 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7873:Efcab6
|
UTSW |
15 |
84,018,625 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8031:Efcab6
|
UTSW |
15 |
83,983,498 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8075:Efcab6
|
UTSW |
15 |
83,967,623 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8209:Efcab6
|
UTSW |
15 |
83,904,255 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8226:Efcab6
|
UTSW |
15 |
83,904,255 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8710:Efcab6
|
UTSW |
15 |
84,018,648 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8869:Efcab6
|
UTSW |
15 |
84,044,231 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8890:Efcab6
|
UTSW |
15 |
83,945,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9278:Efcab6
|
UTSW |
15 |
83,892,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9383:Efcab6
|
UTSW |
15 |
83,872,419 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9641:Efcab6
|
UTSW |
15 |
83,879,475 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0019:Efcab6
|
UTSW |
15 |
83,879,483 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
X0064:Efcab6
|
UTSW |
15 |
83,983,493 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1088:Efcab6
|
UTSW |
15 |
83,955,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTGTTGCAGCCTTACAAGAGC -3'
(R):5'- TGGCCTTGCTTGTACCTGAC -3'
Sequencing Primer
(F):5'- GCCTTACAAGAGCCCTGTCAG -3'
(R):5'- GCTGACAGCACTGTCTTT -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation