Incidental Mutation 'R7526:Atp8b5'
| ID |
582972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
045598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43366609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 791
(E791G)
|
| 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: E791G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: E791G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,043,807 (GRCm39) |
F85I |
unknown |
Het |
| Ankrd22 |
A |
T |
19: 34,126,765 (GRCm39) |
W22R |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,938,590 (GRCm39) |
H1287Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Bicd1 |
T |
G |
6: 149,415,224 (GRCm39) |
S646A |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,562,360 (GRCm39) |
Y276N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,496,850 (GRCm39) |
H465R |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,899,184 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
G |
7: 16,016,325 (GRCm39) |
L139P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,800,771 (GRCm39) |
M355K |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,342,985 (GRCm39) |
V116E |
probably benign |
Het |
| Defb48 |
A |
G |
14: 63,215,280 (GRCm39) |
V32A |
possibly damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,076 (GRCm39) |
D460G |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,308,241 (GRCm39) |
V2170A |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,833 (GRCm39) |
F1912I |
possibly damaging |
Het |
| Dok3 |
C |
T |
13: 55,675,306 (GRCm39) |
V71I |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,795,837 (GRCm39) |
F178Y |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,550,308 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
G |
6: 97,090,913 (GRCm39) |
F409L |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,538,110 (GRCm39) |
L218H |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,796 (GRCm39) |
I2149M |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,476,464 (GRCm39) |
V1837I |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,126 (GRCm39) |
T501S |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,518,479 (GRCm39) |
E1365D |
probably damaging |
Het |
| Fzd5 |
G |
T |
1: 64,775,251 (GRCm39) |
P170Q |
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,588,298 (GRCm39) |
H233Y |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,257,766 (GRCm39) |
V735M |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,919 (GRCm39) |
I143L |
|
Het |
| Greb1 |
G |
A |
12: 16,766,766 (GRCm39) |
T344I |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,399,918 (GRCm39) |
Y271N |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,808,885 (GRCm39) |
N212D |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,461,077 (GRCm39) |
L187P |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,324 (GRCm39) |
I3152T |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,728 (GRCm39) |
I96N |
unknown |
Het |
| Il18r1 |
T |
A |
1: 40,510,932 (GRCm39) |
L6I |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,953,798 (GRCm39) |
V80I |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,493 (GRCm39) |
I255V |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,039,629 (GRCm39) |
N20K |
possibly damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,448,864 (GRCm39) |
W572R |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,281,496 (GRCm39) |
T71A |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,734,655 (GRCm39) |
T613K |
possibly damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,805,715 (GRCm39) |
S195P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,351 (GRCm39) |
N603S |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,389,607 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,163,697 (GRCm39) |
M1K |
probably null |
Het |
| Or8k37 |
A |
G |
2: 86,470,013 (GRCm39) |
I13T |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 117,031,341 (GRCm39) |
E457G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,571,076 (GRCm39) |
F154L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,659,875 (GRCm39) |
S704P |
probably damaging |
Het |
| Pkib |
A |
G |
10: 57,612,394 (GRCm39) |
T92A |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,888,678 (GRCm39) |
R376G |
possibly damaging |
Het |
| Pramel28 |
A |
T |
4: 143,692,387 (GRCm39) |
C205S |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,984,564 (GRCm39) |
E527D |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,474,337 (GRCm39) |
V469A |
probably damaging |
Het |
| Rnf148 |
G |
A |
6: 23,654,283 (GRCm39) |
Q238* |
probably null |
Het |
| Scn9a |
A |
C |
2: 66,313,990 (GRCm39) |
N1909K |
probably benign |
Het |
| Sema3c |
A |
T |
5: 17,932,594 (GRCm39) |
H699L |
possibly damaging |
Het |
| Sema3f |
A |
T |
9: 107,566,927 (GRCm39) |
C201S |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,152,583 (GRCm39) |
D206V |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,597,637 (GRCm39) |
S415T |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,932 (GRCm39) |
L50Q |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,296 (GRCm39) |
E262G |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,738,353 (GRCm39) |
I205M |
probably damaging |
Het |
| Sod2 |
G |
T |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Tec |
T |
C |
5: 72,943,362 (GRCm39) |
I118V |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,740,847 (GRCm39) |
V1212E |
probably damaging |
Het |
| Tex44 |
G |
A |
1: 86,354,237 (GRCm39) |
V49I |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,861,205 (GRCm39) |
L972* |
probably null |
Het |
| Tpte |
G |
A |
8: 22,815,563 (GRCm39) |
|
probably null |
Het |
| Trim6 |
T |
A |
7: 103,882,039 (GRCm39) |
I456N |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Ubxn8 |
A |
T |
8: 34,123,635 (GRCm39) |
N101K |
probably benign |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,392 (GRCm39) |
T667A |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,384 (GRCm39) |
|
probably null |
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 |
|
|
R0379:Atp8b5
|
UTSW |
4 |
43,361,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TAATGGCCCACTGACCCAATG -3'
(R):5'- CACATGCCTTTGATCATGCTG -3'
Sequencing Primer
(F):5'- AAGTTCCCACTGGAGGCTGAG -3'
(R):5'- GATCATGCTGATGTCATTGGCCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation