Incidental Mutation 'R0379:Atp8b5'
ID |
30852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
038585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0379 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43361898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 648
(R648L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107937]
[ENSMUST00000107942]
|
AlphaFold |
A3FIN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107942
AA Change: R648L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457 AA Change: R648L
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
104 |
1.8e-26 |
PFAM |
Pfam:E1-E2_ATPase
|
103 |
375 |
4.9e-9 |
PFAM |
Pfam:HAD
|
413 |
847 |
2e-18 |
PFAM |
Pfam:Cation_ATPase
|
495 |
594 |
1e-9 |
PFAM |
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2.6e-77 |
PFAM |
low complexity region
|
1171 |
1180 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3806 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
Validation Efficiency |
98% (79/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
A |
G |
11: 11,539,365 (GRCm39) |
|
probably benign |
Het |
Apba1 |
A |
C |
19: 23,912,194 (GRCm39) |
N558T |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,702,320 (GRCm39) |
|
probably null |
Het |
Arsb |
T |
C |
13: 94,077,135 (GRCm39) |
S501P |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,145,141 (GRCm39) |
T1295A |
probably benign |
Het |
Bcl2a1b |
T |
C |
9: 89,081,789 (GRCm39) |
I126T |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,090,802 (GRCm39) |
|
probably benign |
Het |
Cd93 |
T |
C |
2: 148,283,430 (GRCm39) |
|
probably benign |
Het |
Chd5 |
A |
G |
4: 152,467,778 (GRCm39) |
K1692R |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,299,791 (GRCm39) |
T13A |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
Clec4g |
A |
G |
8: 3,768,440 (GRCm39) |
V97A |
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,229,897 (GRCm39) |
R1483K |
possibly damaging |
Het |
Crem |
A |
T |
18: 3,299,226 (GRCm39) |
V82D |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 77,618,423 (GRCm39) |
T180S |
probably benign |
Het |
Cybrd1 |
T |
C |
2: 70,960,099 (GRCm39) |
I99T |
probably benign |
Het |
Cyp4a32 |
G |
A |
4: 115,478,671 (GRCm39) |
V468M |
probably damaging |
Het |
Dlk1 |
A |
G |
12: 109,420,985 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,627,466 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,179,336 (GRCm39) |
Y1003F |
probably benign |
Het |
Egfem1 |
A |
C |
3: 29,722,399 (GRCm39) |
E376A |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,812,165 (GRCm39) |
I1416K |
probably damaging |
Het |
Fbxl4 |
A |
G |
4: 22,386,106 (GRCm39) |
T238A |
probably benign |
Het |
Fer1l6 |
A |
G |
15: 58,420,187 (GRCm39) |
I33M |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,049 (GRCm39) |
S830P |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,903,368 (GRCm39) |
R3082* |
probably null |
Het |
Galnt13 |
T |
C |
2: 54,950,504 (GRCm39) |
V395A |
possibly damaging |
Het |
Gpd2 |
C |
T |
2: 57,235,275 (GRCm39) |
T335I |
probably damaging |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,235,759 (GRCm39) |
|
probably benign |
Het |
Ints5 |
G |
T |
19: 8,874,497 (GRCm39) |
V819L |
possibly damaging |
Het |
Klhdc10 |
C |
G |
6: 30,450,669 (GRCm39) |
Q292E |
possibly damaging |
Het |
Lmbrd2 |
G |
A |
15: 9,149,566 (GRCm39) |
A67T |
probably benign |
Het |
Lrp1 |
T |
G |
10: 127,430,838 (GRCm39) |
T404P |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,064,470 (GRCm39) |
S249P |
probably benign |
Het |
Mcm10 |
T |
A |
2: 5,013,434 (GRCm39) |
K66M |
probably benign |
Het |
Mtmr7 |
C |
A |
8: 41,004,642 (GRCm39) |
D645Y |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,216,868 (GRCm39) |
I2602F |
possibly damaging |
Het |
Myh13 |
G |
A |
11: 67,260,121 (GRCm39) |
|
probably benign |
Het |
Myo18a |
G |
A |
11: 77,741,632 (GRCm39) |
V1776I |
possibly damaging |
Het |
Ncapg2 |
T |
C |
12: 116,406,695 (GRCm39) |
L957S |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,896,422 (GRCm39) |
S442P |
probably damaging |
Het |
Or5t5 |
G |
A |
2: 86,616,079 (GRCm39) |
E2K |
probably benign |
Het |
Or6x1 |
G |
A |
9: 40,098,729 (GRCm39) |
G106D |
probably damaging |
Het |
Or7g32 |
T |
A |
9: 19,388,776 (GRCm39) |
T257S |
possibly damaging |
Het |
Pdcd6 |
G |
T |
13: 74,457,831 (GRCm39) |
N113K |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,856,810 (GRCm39) |
|
probably benign |
Het |
Pfkm |
A |
G |
15: 98,024,195 (GRCm39) |
H401R |
probably benign |
Het |
Phldb2 |
C |
A |
16: 45,601,814 (GRCm39) |
D754Y |
probably damaging |
Het |
Plekhb2 |
T |
A |
1: 34,902,195 (GRCm39) |
M49K |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,573,445 (GRCm39) |
S1057P |
possibly damaging |
Het |
Prps1l1 |
A |
G |
12: 35,035,077 (GRCm39) |
N64S |
probably benign |
Het |
Prss3l |
T |
G |
6: 41,422,190 (GRCm39) |
|
probably benign |
Het |
Psg16 |
T |
C |
7: 16,864,583 (GRCm39) |
S393P |
probably benign |
Het |
Rundc1 |
C |
T |
11: 101,315,973 (GRCm39) |
T15I |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,329,697 (GRCm39) |
L143S |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Serpinf1 |
T |
G |
11: 75,304,771 (GRCm39) |
I197L |
probably benign |
Het |
Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,787,925 (GRCm39) |
V271I |
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,853,048 (GRCm39) |
D34G |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,059,161 (GRCm39) |
|
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,233,211 (GRCm39) |
I51T |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,491,989 (GRCm39) |
R9Q |
probably damaging |
Het |
Trim47 |
T |
A |
11: 115,997,344 (GRCm39) |
H470L |
probably damaging |
Het |
Ttc41 |
T |
A |
10: 86,548,841 (GRCm39) |
Y12N |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,612,105 (GRCm39) |
E69G |
probably damaging |
Het |
Tubgcp3 |
G |
A |
8: 12,691,116 (GRCm39) |
T474M |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,019,201 (GRCm39) |
N777K |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,184,016 (GRCm39) |
L1440P |
probably damaging |
Het |
Usp28 |
A |
C |
9: 48,935,367 (GRCm39) |
D458A |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,851,665 (GRCm39) |
D1098E |
probably damaging |
Het |
Vmn1r73 |
C |
T |
7: 11,490,773 (GRCm39) |
T197I |
probably benign |
Het |
Vmn2r15 |
T |
C |
5: 109,434,344 (GRCm39) |
S787G |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,948,401 (GRCm39) |
I549N |
probably damaging |
Het |
Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
Zfp974 |
T |
A |
7: 27,610,357 (GRCm39) |
N456I |
probably damaging |
Het |
|
Other mutations in Atp8b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Atp8b5
|
APN |
4 |
43,355,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00970:Atp8b5
|
APN |
4 |
43,311,938 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01335:Atp8b5
|
APN |
4 |
43,302,628 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01462:Atp8b5
|
APN |
4 |
43,368,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01657:Atp8b5
|
APN |
4 |
43,291,693 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01935:Atp8b5
|
APN |
4 |
43,366,638 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01977:Atp8b5
|
APN |
4 |
43,320,590 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02102:Atp8b5
|
APN |
4 |
43,364,167 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02369:Atp8b5
|
APN |
4 |
43,334,205 (GRCm39) |
missense |
probably benign |
|
IGL02456:Atp8b5
|
APN |
4 |
43,365,578 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02696:Atp8b5
|
APN |
4 |
43,369,634 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02826:Atp8b5
|
APN |
4 |
43,366,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Atp8b5
|
APN |
4 |
43,305,774 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0128:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0130:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0243:Atp8b5
|
UTSW |
4 |
43,366,057 (GRCm39) |
missense |
probably benign |
|
R0256:Atp8b5
|
UTSW |
4 |
43,302,576 (GRCm39) |
intron |
probably benign |
|
R0671:Atp8b5
|
UTSW |
4 |
43,291,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1109:Atp8b5
|
UTSW |
4 |
43,305,719 (GRCm39) |
intron |
probably benign |
|
R1442:Atp8b5
|
UTSW |
4 |
43,334,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R1454:Atp8b5
|
UTSW |
4 |
43,302,590 (GRCm39) |
missense |
probably benign |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1503:Atp8b5
|
UTSW |
4 |
43,344,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Atp8b5
|
UTSW |
4 |
43,355,673 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1677:Atp8b5
|
UTSW |
4 |
43,372,903 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1861:Atp8b5
|
UTSW |
4 |
43,372,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Atp8b5
|
UTSW |
4 |
43,361,804 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1903:Atp8b5
|
UTSW |
4 |
43,357,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Atp8b5
|
UTSW |
4 |
43,369,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R2131:Atp8b5
|
UTSW |
4 |
43,370,726 (GRCm39) |
missense |
probably benign |
0.33 |
R2971:Atp8b5
|
UTSW |
4 |
43,361,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Atp8b5
|
UTSW |
4 |
43,311,957 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3433:Atp8b5
|
UTSW |
4 |
43,372,697 (GRCm39) |
missense |
probably benign |
|
R3690:Atp8b5
|
UTSW |
4 |
43,368,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Atp8b5
|
UTSW |
4 |
43,365,591 (GRCm39) |
missense |
probably damaging |
0.97 |
R4484:Atp8b5
|
UTSW |
4 |
43,357,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Atp8b5
|
UTSW |
4 |
43,365,955 (GRCm39) |
missense |
probably benign |
0.16 |
R4753:Atp8b5
|
UTSW |
4 |
43,372,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4761:Atp8b5
|
UTSW |
4 |
43,308,504 (GRCm39) |
makesense |
probably null |
|
R4784:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4785:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4855:Atp8b5
|
UTSW |
4 |
43,344,449 (GRCm39) |
missense |
probably benign |
|
R5422:Atp8b5
|
UTSW |
4 |
43,366,644 (GRCm39) |
missense |
probably benign |
0.10 |
R5915:Atp8b5
|
UTSW |
4 |
43,370,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Atp8b5
|
UTSW |
4 |
43,304,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Atp8b5
|
UTSW |
4 |
43,371,003 (GRCm39) |
missense |
probably benign |
0.03 |
R6708:Atp8b5
|
UTSW |
4 |
43,334,249 (GRCm39) |
missense |
probably benign |
|
R6931:Atp8b5
|
UTSW |
4 |
43,364,108 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7021:Atp8b5
|
UTSW |
4 |
43,355,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R7085:Atp8b5
|
UTSW |
4 |
43,361,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Atp8b5
|
UTSW |
4 |
43,357,018 (GRCm39) |
missense |
probably damaging |
0.97 |
R7404:Atp8b5
|
UTSW |
4 |
43,342,640 (GRCm39) |
missense |
probably benign |
0.10 |
R7448:Atp8b5
|
UTSW |
4 |
43,366,021 (GRCm39) |
missense |
probably benign |
|
R7465:Atp8b5
|
UTSW |
4 |
43,271,269 (GRCm39) |
missense |
probably benign |
0.00 |
R7526:Atp8b5
|
UTSW |
4 |
43,366,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R7616:Atp8b5
|
UTSW |
4 |
43,370,823 (GRCm39) |
critical splice donor site |
probably null |
|
R7698:Atp8b5
|
UTSW |
4 |
43,366,735 (GRCm39) |
missense |
probably benign |
0.27 |
R7883:Atp8b5
|
UTSW |
4 |
43,342,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R8052:Atp8b5
|
UTSW |
4 |
43,356,982 (GRCm39) |
nonsense |
probably null |
|
R8218:Atp8b5
|
UTSW |
4 |
43,372,728 (GRCm39) |
critical splice donor site |
probably null |
|
R8248:Atp8b5
|
UTSW |
4 |
43,366,072 (GRCm39) |
missense |
probably damaging |
0.97 |
R8345:Atp8b5
|
UTSW |
4 |
43,291,714 (GRCm39) |
missense |
probably benign |
0.01 |
R8756:Atp8b5
|
UTSW |
4 |
43,342,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R8888:Atp8b5
|
UTSW |
4 |
43,304,687 (GRCm39) |
missense |
|
|
R8942:Atp8b5
|
UTSW |
4 |
43,353,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Atp8b5
|
UTSW |
4 |
43,308,493 (GRCm39) |
utr 3 prime |
probably benign |
|
R9154:Atp8b5
|
UTSW |
4 |
43,372,630 (GRCm39) |
missense |
probably benign |
0.19 |
R9211:Atp8b5
|
UTSW |
4 |
43,367,960 (GRCm39) |
missense |
probably damaging |
0.97 |
R9361:Atp8b5
|
UTSW |
4 |
43,369,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9786:Atp8b5
|
UTSW |
4 |
43,305,798 (GRCm39) |
missense |
probably damaging |
0.97 |
X0025:Atp8b5
|
UTSW |
4 |
43,366,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atp8b5
|
UTSW |
4 |
43,361,903 (GRCm39) |
missense |
probably benign |
0.40 |
Z1177:Atp8b5
|
UTSW |
4 |
43,370,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGTCTTTCCCTGAGTCGCATAAC -3'
(R):5'- GGCACAAAGGTTCCGAGCTTTCTG -3'
Sequencing Primer
(F):5'- tgcctctctcagtctccc -3'
(R):5'- CCGAGCTTTCTGTTGAGCC -3'
|
Posted On |
2013-04-24 |