Incidental Mutation 'R0520:Efcab6'
| ID |
48480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efcab6
|
| Ensembl Gene |
ENSMUSG00000022441 |
| Gene Name |
EF-hand calcium binding domain 6 |
| Synonyms |
4932408N08Rik, 4931407K02Rik |
| MMRRC Submission |
038713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0520 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83750913-83949580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83834247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 454
(H454Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156187]
|
| AlphaFold |
Q6P1E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156187
AA Change: H454Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000114909
Gene: ENSMUSG00000022441
AA Change: H454Y
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163773
|
| SMART Domains |
Protein: ENSMUSP00000128002
Gene: ENSMUSG00000022441
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
44 |
69 |
6e-9 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,288,952 (GRCm39) |
I154T |
possibly damaging |
Het |
| Acr |
G |
T |
15: 89,457,430 (GRCm39) |
C226F |
probably damaging |
Het |
| Aff1 |
C |
T |
5: 103,995,617 (GRCm39) |
R1070* |
probably null |
Het |
| Aldh9a1 |
C |
T |
1: 167,188,960 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,915,851 (GRCm39) |
H12Q |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,593,416 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,558 (GRCm39) |
M1815K |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,043 (GRCm39) |
D1351V |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,178 (GRCm39) |
W299* |
probably null |
Het |
| B3gntl1 |
C |
A |
11: 121,514,314 (GRCm39) |
V313F |
possibly damaging |
Het |
| B4galnt4 |
T |
A |
7: 140,647,286 (GRCm39) |
C345* |
probably null |
Het |
| Bicc1 |
A |
T |
10: 70,793,020 (GRCm39) |
F211L |
probably damaging |
Het |
| Cachd1 |
T |
G |
4: 100,754,900 (GRCm39) |
V117G |
probably damaging |
Het |
| Cdc16 |
G |
A |
8: 13,810,569 (GRCm39) |
|
probably null |
Het |
| Cers6 |
C |
T |
2: 68,935,435 (GRCm39) |
Q312* |
probably null |
Het |
| Csta2 |
A |
G |
16: 36,073,461 (GRCm39) |
I16V |
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,437,512 (GRCm39) |
H115R |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,594,692 (GRCm39) |
T18A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,565,604 (GRCm39) |
V816A |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 70,823,989 (GRCm39) |
Q325* |
probably null |
Het |
| Dnaja1 |
A |
T |
4: 40,728,072 (GRCm39) |
M178L |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,378,732 (GRCm39) |
S454T |
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,727,031 (GRCm39) |
D447E |
probably benign |
Het |
| F5 |
T |
G |
1: 164,037,156 (GRCm39) |
I1965S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,146,821 (GRCm39) |
C2692R |
probably damaging |
Het |
| Fggy |
T |
A |
4: 95,489,340 (GRCm39) |
L152Q |
probably damaging |
Het |
| Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
| Gm9871 |
A |
G |
6: 101,778,540 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
A |
T |
9: 107,497,372 (GRCm39) |
D7E |
probably benign |
Het |
| Gon7 |
C |
T |
12: 102,724,047 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
A |
T |
17: 34,216,390 (GRCm39) |
V272E |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,770 (GRCm39) |
R2555L |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,317,618 (GRCm39) |
R360G |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,234,546 (GRCm39) |
S470R |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,633,642 (GRCm39) |
|
probably benign |
Het |
| Inpp5k |
C |
A |
11: 75,530,356 (GRCm39) |
Y265* |
probably null |
Het |
| Klhl33 |
T |
G |
14: 51,129,140 (GRCm39) |
E436D |
probably damaging |
Het |
| Krt80 |
A |
G |
15: 101,267,898 (GRCm39) |
L13P |
probably benign |
Het |
| Krtap19-2 |
C |
T |
16: 88,670,749 (GRCm39) |
|
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,280,708 (GRCm39) |
T526A |
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,146,336 (GRCm39) |
|
probably null |
Het |
| Msh2 |
G |
T |
17: 88,024,972 (GRCm39) |
V617F |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,371,874 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,681,263 (GRCm39) |
|
probably benign |
Het |
| Or7h8 |
G |
A |
9: 20,123,791 (GRCm39) |
V49I |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,849 (GRCm39) |
V298A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,475 (GRCm39) |
T75K |
probably damaging |
Het |
| Or9s14 |
T |
A |
1: 92,536,471 (GRCm39) |
V304E |
probably damaging |
Het |
| Osgin1 |
A |
G |
8: 120,169,247 (GRCm39) |
H48R |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,811,920 (GRCm39) |
T369S |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,844 (GRCm39) |
Q821* |
probably null |
Het |
| Plekhm1 |
T |
C |
11: 103,285,770 (GRCm39) |
I222V |
probably benign |
Het |
| Ptprg |
T |
G |
14: 12,199,783 (GRCm38) |
N65K |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,771,710 (GRCm39) |
V351E |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,546 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,736,538 (GRCm39) |
D587E |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,238,823 (GRCm39) |
M164V |
probably benign |
Het |
| Stat5a |
T |
C |
11: 100,752,252 (GRCm39) |
V30A |
probably damaging |
Het |
| Stk36 |
T |
G |
1: 74,641,365 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,614,839 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,265,799 (GRCm39) |
M553T |
probably damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,636 (GRCm39) |
Y89N |
possibly damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,690 (GRCm39) |
Y991C |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,666,579 (GRCm39) |
K615E |
possibly damaging |
Het |
| Ubac2 |
C |
T |
14: 122,231,754 (GRCm39) |
P227S |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,588 (GRCm39) |
K565T |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,133 (GRCm39) |
F2409L |
possibly damaging |
Het |
| Wdr64 |
A |
G |
1: 175,553,958 (GRCm39) |
T173A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,285,419 (GRCm39) |
I60T |
probably benign |
Het |
| Zfp81 |
A |
G |
17: 33,553,351 (GRCm39) |
S488P |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCGAGAGTTACCCAGCCAAGAGC -3'
(R):5'- GTGCCTCCTAAAAGGCCCTCAATC -3'
Sequencing Primer
(F):5'- AAGAGCCTGCTGCTGGG -3'
(R):5'- AGCCTTAGAAAGTCTTAGTGGCTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation