Incidental Mutation 'R8248:Atp8b5'
| ID |
640365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43366072 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 781
(I781N)
|
| 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: I781N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I781N
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,883,806 |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 24,901,470 |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,797,564 |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,972,092 |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 9,001,946 |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,937,785 |
H658L |
possibly damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,742,645 |
R47* |
probably null |
Het |
| Clk2 |
G |
A |
3: 89,173,504 |
V266M |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,530,014 |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,522,926 |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,479,598 |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,243,582 |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,502,895 |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,600,201 |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,818,887 |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,831,102 |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,538,188 |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,716,116 |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,787,443 |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,266,871 |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 96,714,017 |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,260,677 |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,344,865 |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,302,961 |
D179G |
probably benign |
Het |
| Itch |
T |
C |
2: 155,206,383 |
|
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,662,052 |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,071,878 |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 39,061,379 |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,705,903 |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,607,867 |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,738,721 |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,506,495 |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,931,104 |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,697,971 |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,151,997 |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 69,000,263 |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,543,546 |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,960,731 |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,641,164 |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,455,126 |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,316,285 |
K812E |
unknown |
Het |
| Qars |
G |
A |
9: 108,509,452 |
A155T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,047,380 |
A318D |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,137,704 |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,928,681 |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,156,988 |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 29,069,121 |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,019,038 |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,370,199 |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,769,933 |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,804,817 |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,723,143 |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,593,745 |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 86,135,021 |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,892,093 |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,769,794 |
A47E |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,610,936 |
N192S |
probably benign |
Het |
| Zmym4 |
C |
A |
4: 126,905,369 |
V725L |
possibly damaging |
Het |
|
| Other mutations in Atp8b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Atp8b5
|
APN |
4 |
43,355,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00970:Atp8b5
|
APN |
4 |
43,311,938 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01335:Atp8b5
|
APN |
4 |
43,302,628 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01462:Atp8b5
|
APN |
4 |
43,368,010 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01657:Atp8b5
|
APN |
4 |
43,291,693 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01935:Atp8b5
|
APN |
4 |
43,366,638 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01977:Atp8b5
|
APN |
4 |
43,320,590 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02102:Atp8b5
|
APN |
4 |
43,364,167 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02369:Atp8b5
|
APN |
4 |
43,334,205 (GRCm38) |
missense |
probably benign |
|
|
IGL02456:Atp8b5
|
APN |
4 |
43,365,578 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02696:Atp8b5
|
APN |
4 |
43,369,634 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02826:Atp8b5
|
APN |
4 |
43,366,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02947:Atp8b5
|
APN |
4 |
43,305,774 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0128:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0130:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0243:Atp8b5
|
UTSW |
4 |
43,366,057 (GRCm38) |
missense |
probably benign |
|
|
R0256:Atp8b5
|
UTSW |
4 |
43,302,576 (GRCm38) |
intron |
probably benign |
|
|
R0379:Atp8b5
|
UTSW |
4 |
43,361,898 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0671:Atp8b5
|
UTSW |
4 |
43,291,672 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1109:Atp8b5
|
UTSW |
4 |
43,305,719 (GRCm38) |
intron |
probably benign |
|
|
R1442:Atp8b5
|
UTSW |
4 |
43,334,313 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1454:Atp8b5
|
UTSW |
4 |
43,302,590 (GRCm38) |
missense |
probably benign |
|
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1503:Atp8b5
|
UTSW |
4 |
43,344,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1580:Atp8b5
|
UTSW |
4 |
43,355,673 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1677:Atp8b5
|
UTSW |
4 |
43,372,903 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1861:Atp8b5
|
UTSW |
4 |
43,372,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Atp8b5
|
UTSW |
4 |
43,361,804 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1903:Atp8b5
|
UTSW |
4 |
43,357,063 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1961:Atp8b5
|
UTSW |
4 |
43,369,688 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2131:Atp8b5
|
UTSW |
4 |
43,370,726 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2971:Atp8b5
|
UTSW |
4 |
43,361,953 (GRCm38) |
splice site |
probably benign |
|
|
R3023:Atp8b5
|
UTSW |
4 |
43,311,957 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R3433:Atp8b5
|
UTSW |
4 |
43,372,697 (GRCm38) |
missense |
probably benign |
|
|
R3690:Atp8b5
|
UTSW |
4 |
43,368,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4157:Atp8b5
|
UTSW |
4 |
43,365,591 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4484:Atp8b5
|
UTSW |
4 |
43,357,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4510:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4511:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4679:Atp8b5
|
UTSW |
4 |
43,365,955 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4753:Atp8b5
|
UTSW |
4 |
43,372,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4761:Atp8b5
|
UTSW |
4 |
43,308,504 (GRCm38) |
makesense |
probably null |
|
|
R4784:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4785:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4855:Atp8b5
|
UTSW |
4 |
43,344,449 (GRCm38) |
missense |
probably benign |
|
|
R5422:Atp8b5
|
UTSW |
4 |
43,366,644 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5915:Atp8b5
|
UTSW |
4 |
43,370,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6228:Atp8b5
|
UTSW |
4 |
43,304,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6496:Atp8b5
|
UTSW |
4 |
43,371,003 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6708:Atp8b5
|
UTSW |
4 |
43,334,249 (GRCm38) |
missense |
probably benign |
|
|
R6931:Atp8b5
|
UTSW |
4 |
43,364,108 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7021:Atp8b5
|
UTSW |
4 |
43,355,618 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7085:Atp8b5
|
UTSW |
4 |
43,361,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7207:Atp8b5
|
UTSW |
4 |
43,357,018 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7404:Atp8b5
|
UTSW |
4 |
43,342,640 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7448:Atp8b5
|
UTSW |
4 |
43,366,021 (GRCm38) |
missense |
probably benign |
|
|
R7465:Atp8b5
|
UTSW |
4 |
43,271,269 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7526:Atp8b5
|
UTSW |
4 |
43,366,609 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7616:Atp8b5
|
UTSW |
4 |
43,370,823 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7698:Atp8b5
|
UTSW |
4 |
43,366,735 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7883:Atp8b5
|
UTSW |
4 |
43,342,471 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8052:Atp8b5
|
UTSW |
4 |
43,356,982 (GRCm38) |
nonsense |
probably null |
|
|
R8218:Atp8b5
|
UTSW |
4 |
43,372,728 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8345:Atp8b5
|
UTSW |
4 |
43,291,714 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8756:Atp8b5
|
UTSW |
4 |
43,342,439 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8888:Atp8b5
|
UTSW |
4 |
43,304,687 (GRCm38) |
missense |
|
|
|
R8942:Atp8b5
|
UTSW |
4 |
43,353,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9153:Atp8b5
|
UTSW |
4 |
43,308,493 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9154:Atp8b5
|
UTSW |
4 |
43,372,630 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9211:Atp8b5
|
UTSW |
4 |
43,367,960 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9361:Atp8b5
|
UTSW |
4 |
43,369,658 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9786:Atp8b5
|
UTSW |
4 |
43,305,798 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0025:Atp8b5
|
UTSW |
4 |
43,366,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Atp8b5
|
UTSW |
4 |
43,361,903 (GRCm38) |
missense |
probably benign |
0.40 |
|
Z1177:Atp8b5
|
UTSW |
4 |
43,370,669 (GRCm38) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATGAGACTCTGACCATGC -3'
(R):5'- CTCTGAGTAGCAAGCCACTTTAG -3'
Sequencing Primer
(F):5'- GCTGTCTTGGCTTCCAGAACAG -3'
(R):5'- CTGAGTAGCAAGCCACTTTAGTAGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation