Incidental Mutation 'R0128:Atp8b5'
ID |
60503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
038413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0128 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 43369715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000107942
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.6%
- 10x: 93.0%
- 20x: 79.3%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,552,602 (GRCm39) |
|
probably benign |
Het |
Abcd4 |
T |
G |
12: 84,659,126 (GRCm39) |
Q210P |
possibly damaging |
Het |
Ablim2 |
G |
A |
5: 35,966,520 (GRCm39) |
|
probably benign |
Het |
Acte1 |
G |
T |
7: 143,445,492 (GRCm39) |
G178C |
probably damaging |
Het |
Actl6b |
A |
G |
5: 137,553,327 (GRCm39) |
N113S |
probably benign |
Het |
Actn3 |
A |
T |
19: 4,921,643 (GRCm39) |
V179E |
probably damaging |
Het |
Aff4 |
C |
A |
11: 53,306,293 (GRCm39) |
T1145N |
probably damaging |
Het |
Ankrd42 |
G |
A |
7: 92,241,067 (GRCm39) |
Q431* |
probably null |
Het |
Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
Arfgef2 |
T |
G |
2: 166,677,639 (GRCm39) |
I88S |
probably damaging |
Het |
Asap3 |
C |
A |
4: 135,961,915 (GRCm39) |
N285K |
probably damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,790,248 (GRCm39) |
N477S |
probably damaging |
Het |
Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
C87436 |
G |
A |
6: 86,446,809 (GRCm39) |
G533D |
probably damaging |
Het |
Ccdc138 |
T |
A |
10: 58,364,182 (GRCm39) |
I314N |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,654 (GRCm39) |
F237S |
probably damaging |
Het |
Ccz1 |
T |
G |
5: 143,946,112 (GRCm39) |
|
probably benign |
Het |
Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 17,613,829 (GRCm39) |
N531S |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,368,932 (GRCm39) |
F476I |
probably damaging |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cped1 |
T |
A |
6: 22,121,038 (GRCm39) |
Y373N |
probably benign |
Het |
Cr2 |
A |
T |
1: 194,848,539 (GRCm39) |
V328D |
probably damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,676,883 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
Ergic3 |
C |
A |
2: 155,853,060 (GRCm39) |
R43S |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
Ghrl |
A |
T |
6: 113,694,129 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
T |
A |
12: 81,424,521 (GRCm39) |
K546* |
probably null |
Het |
Gm6576 |
C |
G |
15: 27,026,086 (GRCm39) |
|
noncoding transcript |
Het |
Got1 |
C |
T |
19: 43,512,816 (GRCm39) |
D27N |
probably benign |
Het |
Gucy2c |
C |
T |
6: 136,681,247 (GRCm39) |
V946I |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,306 (GRCm39) |
Y3434H |
possibly damaging |
Het |
Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,448,170 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
G |
A |
18: 15,107,237 (GRCm39) |
P743S |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,171,093 (GRCm39) |
D495G |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Lipo3 |
C |
T |
19: 33,534,506 (GRCm39) |
|
probably null |
Het |
Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,466,950 (GRCm39) |
D1104V |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,438,587 (GRCm39) |
V15A |
probably benign |
Het |
Narf |
C |
T |
11: 121,141,662 (GRCm39) |
R356C |
probably damaging |
Het |
Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,810,133 (GRCm39) |
A76V |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,788 (GRCm39) |
I301F |
probably damaging |
Het |
Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,727,389 (GRCm39) |
Y160* |
probably null |
Het |
Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
G |
A |
19: 47,108,301 (GRCm39) |
V1223I |
probably benign |
Het |
Pde6c |
T |
C |
19: 38,157,813 (GRCm39) |
|
probably benign |
Het |
Prr12 |
A |
G |
7: 44,699,463 (GRCm39) |
|
probably benign |
Het |
Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
Sfr1 |
A |
G |
19: 47,723,457 (GRCm39) |
*320W |
probably null |
Het |
Sft2d1rt |
A |
G |
11: 45,943,120 (GRCm39) |
M1T |
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,665,693 (GRCm39) |
M519V |
probably benign |
Het |
Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
Spag9 |
T |
A |
11: 93,984,365 (GRCm39) |
I327N |
probably damaging |
Het |
Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,054,693 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,226,957 (GRCm39) |
D19G |
possibly 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 |
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 |
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'- ACTACTGGATGCCACCAAGCAGAG -3'
(R):5'- TTAAGGTACTATGCCCACAGCCCC -3'
Sequencing Primer
(F):5'- TAGGTCAATCTTGGAAGCCC -3'
(R):5'- ACCAAGTCTTGGCTCAGTG -3'
|
Posted On |
2013-07-24 |