Incidental Mutation 'R6931:Atp8b5'
| ID |
540001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
045326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6931 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 43364108 bp (GRCm38)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
C |
6: 96,165,548 (GRCm38) |
T172A |
possibly damaging |
Het |
| 2310003L06Rik |
T |
A |
5: 87,970,702 (GRCm38) |
I15N |
probably damaging |
Het |
| 2900092C05Rik |
T |
A |
7: 12,512,596 (GRCm38) |
S6R |
unknown |
Het |
| Abca6 |
T |
A |
11: 110,244,328 (GRCm38) |
L210F |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,527,988 (GRCm38) |
Q919R |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,150,884 (GRCm38) |
D811G |
possibly damaging |
Het |
| Akna |
A |
G |
4: 63,387,102 (GRCm38) |
S476P |
probably benign |
Het |
| Ankrd49 |
T |
C |
9: 14,782,826 (GRCm38) |
N15S |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 62,933,908 (GRCm38) |
D31G |
probably damaging |
Het |
| Aplp1 |
G |
T |
7: 30,443,200 (GRCm38) |
R106S |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,531,218 (GRCm38) |
L132S |
probably benign |
Het |
| Axl |
T |
C |
7: 25,761,433 (GRCm38) |
D717G |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,801,382 (GRCm38) |
D1014V |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,282,234 (GRCm38) |
V603E |
possibly damaging |
Het |
| Cnot11 |
G |
C |
1: 39,539,921 (GRCm38) |
C289S |
probably damaging |
Het |
| Coasy |
A |
G |
11: 101,083,581 (GRCm38) |
H191R |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 58,025,120 (GRCm38) |
N341Y |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,682,156 (GRCm38) |
N125S |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,444,781 (GRCm38) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,117,626 (GRCm38) |
I791K |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,529,011 (GRCm38) |
Q505H |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,085,487 (GRCm38) |
M1L |
probably damaging |
Het |
| Fam171a2 |
A |
G |
11: 102,438,434 (GRCm38) |
S500P |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,959,942 (GRCm38) |
S3718P |
possibly damaging |
Het |
| Frem1 |
G |
A |
4: 82,970,677 (GRCm38) |
P1085S |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,942,985 (GRCm38) |
I390V |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,210,956 (GRCm38) |
L993P |
probably damaging |
Het |
| Ggnbp2 |
T |
A |
11: 84,833,167 (GRCm38) |
D647V |
probably damaging |
Het |
| Gm7534 |
A |
T |
4: 134,193,153 (GRCm38) |
M567K |
probably benign |
Het |
| Gpr84 |
A |
C |
15: 103,309,014 (GRCm38) |
L212R |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,331,432 (GRCm38) |
|
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,540,720 (GRCm38) |
C2116F |
probably damaging |
Het |
| Icam4 |
T |
A |
9: 21,030,451 (GRCm38) |
V249E |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,001,563 (GRCm38) |
N429D |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,164,838 (GRCm38) |
T402A |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,537,627 (GRCm38) |
V246E |
probably damaging |
Het |
| March1 |
A |
G |
8: 66,468,492 (GRCm38) |
T529A |
probably benign |
Het |
| Med18 |
C |
G |
4: 132,459,883 (GRCm38) |
V102L |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,477,275 (GRCm38) |
D160G |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,303,698 (GRCm38) |
I470T |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,229,159 (GRCm38) |
|
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,220,322 (GRCm38) |
L137F |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,542,330 (GRCm38) |
L341* |
probably null |
Het |
| Nacad |
A |
G |
11: 6,601,877 (GRCm38) |
F438S |
probably benign |
Het |
| Necap2 |
C |
A |
4: 141,078,212 (GRCm38) |
|
probably null |
Het |
| Nifk |
T |
C |
1: 118,332,348 (GRCm38) |
L163S |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,289,997 (GRCm38) |
I73V |
probably benign |
Het |
| Olfr1179 |
G |
A |
2: 88,402,064 (GRCm38) |
T290I |
probably benign |
Het |
| Olfr1186 |
T |
A |
2: 88,526,194 (GRCm38) |
C204S |
possibly damaging |
Het |
| Olfr142 |
A |
T |
2: 90,252,777 (GRCm38) |
C70* |
probably null |
Het |
| Olfr715 |
A |
G |
7: 107,128,901 (GRCm38) |
L164P |
probably damaging |
Het |
| Oog3 |
C |
T |
4: 144,159,353 (GRCm38) |
C225Y |
probably benign |
Het |
| Plagl2 |
C |
A |
2: 153,235,943 (GRCm38) |
K39N |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 117,557,319 (GRCm38) |
D118E |
probably benign |
Het |
| Ppp4r3b |
A |
T |
11: 29,211,786 (GRCm38) |
K720I |
possibly damaging |
Het |
| Prmt3 |
A |
T |
7: 49,829,016 (GRCm38) |
T442S |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,830,691 (GRCm38) |
H487Y |
probably damaging |
Het |
| Psmb3 |
G |
A |
11: 97,703,971 (GRCm38) |
V63I |
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,343,725 (GRCm38) |
I326K |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,155,075 (GRCm38) |
T405A |
probably benign |
Het |
| Rbm33 |
G |
A |
5: 28,410,745 (GRCm38) |
V29M |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Scarb1 |
T |
A |
5: 125,284,719 (GRCm38) |
I107F |
probably damaging |
Het |
| Slc39a12 |
A |
G |
2: 14,389,375 (GRCm38) |
S19G |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 154,258,506 (GRCm38) |
V503A |
probably benign |
Het |
| Slc9a9 |
T |
C |
9: 94,670,086 (GRCm38) |
S9P |
possibly damaging |
Het |
| Snrnp35 |
A |
C |
5: 124,490,701 (GRCm38) |
R192S |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,352,151 (GRCm38) |
L446P |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,882,597 (GRCm38) |
F209L |
probably benign |
Het |
| Tmprss12 |
C |
T |
15: 100,285,268 (GRCm38) |
R164C |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,417,073 (GRCm38) |
F111Y |
possibly damaging |
Het |
| Trib2 |
A |
T |
12: 15,793,639 (GRCm38) |
M198K |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,914,304 (GRCm38) |
S743P |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,728,383 (GRCm38) |
N2614Y |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,430,458 (GRCm38) |
V343I |
possibly damaging |
Het |
| Vrtn |
C |
A |
12: 84,650,242 (GRCm38) |
Q589K |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,903,329 (GRCm38) |
Y706* |
probably null |
Het |
| Zc3h10 |
A |
G |
10: 128,544,684 (GRCm38) |
V268A |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,410,940 (GRCm38) |
|
probably null |
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 |
|
|
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 |
|
|
R8248:Atp8b5
|
UTSW |
4 |
43,366,072 (GRCm38) |
missense |
probably damaging |
0.97 |
|
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'- AGGCAACACTCTTTCTCCAGC -3'
(R):5'- GGAAGGAAATGTCTACCTGGC -3'
Sequencing Primer
(F):5'- GGACAGCCAGATCTGCATTTTCAAG -3'
(R):5'- AAATGTCTACCTGGCAGGAAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation