Incidental Mutation 'R9326:Atp8b1'
| ID |
706553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9326 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64706344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 222
(S222C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: S222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: S222C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
65 |
144 |
5.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
146 |
413 |
6e-11 |
PFAM |
|
Pfam:HAD
|
451 |
902 |
2.4e-21 |
PFAM |
|
Pfam:Cation_ATPase
|
532 |
632 |
1e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
919 |
1173 |
7.3e-82 |
PFAM |
|
low complexity region
|
1193 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1232 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| Adamts14 |
A |
G |
10: 61,036,238 (GRCm39) |
S1015P |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,854,886 (GRCm39) |
T252A |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,150,804 (GRCm39) |
S149T |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,652,205 (GRCm39) |
K399E |
probably damaging |
Het |
| Ccdc88c |
C |
A |
12: 100,995,109 (GRCm39) |
|
probably benign |
Het |
| Cfap276 |
C |
T |
3: 108,451,931 (GRCm39) |
R159W |
probably damaging |
Het |
| Cip2a |
G |
A |
16: 48,834,235 (GRCm39) |
|
probably null |
Het |
| Cluh |
A |
G |
11: 74,554,902 (GRCm39) |
K780R |
probably benign |
Het |
| Cope |
C |
A |
8: 70,755,516 (GRCm39) |
F20L |
possibly damaging |
Het |
| Cps1 |
G |
T |
1: 67,248,795 (GRCm39) |
R1174L |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,049,803 (GRCm39) |
T2271I |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,616,359 (GRCm39) |
I192T |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,680,018 (GRCm39) |
T106A |
probably benign |
Het |
| Ddb2 |
A |
T |
2: 91,047,559 (GRCm39) |
M240K |
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,591,735 (GRCm39) |
V145D |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,749,008 (GRCm39) |
D268G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,801,886 (GRCm39) |
I716V |
probably benign |
Het |
| Epb41l4a |
G |
T |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,554 (GRCm39) |
N277S |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,837 (GRCm39) |
L240P |
possibly damaging |
Het |
| Gpr87 |
T |
C |
3: 59,086,609 (GRCm39) |
T299A |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,369 (GRCm39) |
Y95H |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,205,416 (GRCm39) |
Y183C |
probably damaging |
Het |
| Ighv14-4 |
T |
A |
12: 114,140,469 (GRCm39) |
I7F |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,495,641 (GRCm39) |
I83F |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,931,745 (GRCm39) |
S609P |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,615 (GRCm39) |
E9G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,906,193 (GRCm39) |
F2421L |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,597,999 (GRCm39) |
I40F |
probably damaging |
Het |
| Lsm5 |
A |
T |
6: 56,681,616 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Man2c1 |
G |
T |
9: 57,042,904 (GRCm39) |
C258F |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,120,023 (GRCm39) |
S28P |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,400,307 (GRCm39) |
V744E |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,656,287 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
C |
T |
11: 51,535,313 (GRCm39) |
R292H |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,369,063 (GRCm39) |
W354R |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,078,692 (GRCm39) |
S1074R |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,730 (GRCm39) |
M219K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,647 (GRCm39) |
H6R |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,346 (GRCm39) |
M277K |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,935 (GRCm39) |
V248A |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,900,506 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,768 (GRCm39) |
D103N |
probably benign |
Het |
| Rrbp1 |
G |
A |
2: 143,806,744 (GRCm39) |
T958M |
probably damaging |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,378,671 (GRCm39) |
C829R |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,795,842 (GRCm39) |
R562* |
probably null |
Het |
| Snx27 |
A |
T |
3: 94,409,369 (GRCm39) |
Y526N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,791,010 (GRCm39) |
L483P |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,537,019 (GRCm39) |
S436P |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,957,983 (GRCm39) |
D37G |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,221,395 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmem161b |
T |
A |
13: 84,440,602 (GRCm39) |
L340* |
probably null |
Het |
| Tpr |
C |
T |
1: 150,301,407 (GRCm39) |
A1331V |
possibly damaging |
Het |
| Tprg1 |
G |
A |
16: 25,136,107 (GRCm39) |
E33K |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,930,627 (GRCm39) |
N123D |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,872,260 (GRCm39) |
S398N |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,111,509 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp975 |
G |
A |
7: 42,311,837 (GRCm39) |
R259* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,626,451 (GRCm39) |
H370Q |
probably damaging |
Het |
|
| Other mutations in Atp8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Atp8b1
|
APN |
18 |
64,697,501 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL00907:Atp8b1
|
APN |
18 |
64,694,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00962:Atp8b1
|
APN |
18 |
64,664,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01433:Atp8b1
|
APN |
18 |
64,706,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01525:Atp8b1
|
APN |
18 |
64,672,323 (GRCm39) |
nonsense |
probably null |
|
|
IGL01645:Atp8b1
|
APN |
18 |
64,679,184 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02008:Atp8b1
|
APN |
18 |
64,671,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Atp8b1
|
APN |
18 |
64,695,261 (GRCm39) |
missense |
probably benign |
|
|
IGL02231:Atp8b1
|
APN |
18 |
64,683,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02326:Atp8b1
|
APN |
18 |
64,671,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02562:Atp8b1
|
APN |
18 |
64,715,057 (GRCm39) |
missense |
probably benign |
|
|
IGL02929:Atp8b1
|
APN |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
enchilada
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4520001:Atp8b1
|
UTSW |
18 |
64,701,251 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4696001:Atp8b1
|
UTSW |
18 |
64,672,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0144:Atp8b1
|
UTSW |
18 |
64,704,445 (GRCm39) |
splice site |
probably benign |
|
|
R0193:Atp8b1
|
UTSW |
18 |
64,694,707 (GRCm39) |
missense |
probably benign |
|
|
R0277:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0308:Atp8b1
|
UTSW |
18 |
64,678,315 (GRCm39) |
nonsense |
probably null |
|
|
R0323:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0403:Atp8b1
|
UTSW |
18 |
64,673,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Atp8b1
|
UTSW |
18 |
64,704,724 (GRCm39) |
splice site |
probably null |
|
|
R0614:Atp8b1
|
UTSW |
18 |
64,666,658 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Atp8b1
|
UTSW |
18 |
64,697,612 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1077:Atp8b1
|
UTSW |
18 |
64,706,333 (GRCm39) |
nonsense |
probably null |
|
|
R1292:Atp8b1
|
UTSW |
18 |
64,704,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1494:Atp8b1
|
UTSW |
18 |
64,697,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Atp8b1
|
UTSW |
18 |
64,683,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Atp8b1
|
UTSW |
18 |
64,704,620 (GRCm39) |
splice site |
probably benign |
|
|
R1772:Atp8b1
|
UTSW |
18 |
64,706,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2016:Atp8b1
|
UTSW |
18 |
64,673,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Atp8b1
|
UTSW |
18 |
64,673,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Atp8b1
|
UTSW |
18 |
64,738,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2223:Atp8b1
|
UTSW |
18 |
64,697,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3052:Atp8b1
|
UTSW |
18 |
64,686,179 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3694:Atp8b1
|
UTSW |
18 |
64,666,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3738:Atp8b1
|
UTSW |
18 |
64,666,800 (GRCm39) |
splice site |
probably benign |
|
|
R4211:Atp8b1
|
UTSW |
18 |
64,686,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Atp8b1
|
UTSW |
18 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4560:Atp8b1
|
UTSW |
18 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
|
R4562:Atp8b1
|
UTSW |
18 |
64,689,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Atp8b1
|
UTSW |
18 |
64,686,170 (GRCm39) |
missense |
probably null |
|
|
R4676:Atp8b1
|
UTSW |
18 |
64,671,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4738:Atp8b1
|
UTSW |
18 |
64,678,251 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4774:Atp8b1
|
UTSW |
18 |
64,666,730 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4808:Atp8b1
|
UTSW |
18 |
64,694,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4868:Atp8b1
|
UTSW |
18 |
64,684,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Atp8b1
|
UTSW |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5289:Atp8b1
|
UTSW |
18 |
64,679,158 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5328:Atp8b1
|
UTSW |
18 |
64,664,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5400:Atp8b1
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5587:Atp8b1
|
UTSW |
18 |
64,672,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Atp8b1
|
UTSW |
18 |
64,679,165 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5651:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5652:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5653:Atp8b1
|
UTSW |
18 |
64,678,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Atp8b1
|
UTSW |
18 |
64,714,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Atp8b1
|
UTSW |
18 |
64,710,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Atp8b1
|
UTSW |
18 |
64,664,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6759:Atp8b1
|
UTSW |
18 |
64,679,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6850:Atp8b1
|
UTSW |
18 |
64,689,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7255:Atp8b1
|
UTSW |
18 |
64,689,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Atp8b1
|
UTSW |
18 |
64,688,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Atp8b1
|
UTSW |
18 |
64,706,376 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7639:Atp8b1
|
UTSW |
18 |
64,697,614 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7698:Atp8b1
|
UTSW |
18 |
64,704,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7727:Atp8b1
|
UTSW |
18 |
64,678,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Atp8b1
|
UTSW |
18 |
64,674,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Atp8b1
|
UTSW |
18 |
64,689,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Atp8b1
|
UTSW |
18 |
64,704,095 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7990:Atp8b1
|
UTSW |
18 |
64,671,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8020:Atp8b1
|
UTSW |
18 |
64,679,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Atp8b1
|
UTSW |
18 |
64,690,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Atp8b1
|
UTSW |
18 |
64,684,931 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9064:Atp8b1
|
UTSW |
18 |
64,697,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9266:Atp8b1
|
UTSW |
18 |
64,710,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9266:Atp8b1
|
UTSW |
18 |
64,704,108 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0025:Atp8b1
|
UTSW |
18 |
64,704,476 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCACTGTGGACATGTCAG -3'
(R):5'- TGTCATCCGCCTGAAGAAG -3'
Sequencing Primer
(F):5'- ACTGTGGACATGTCAGACTGC -3'
(R):5'- TTCCAGTAAGGGAACGGCCTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation