Incidental Mutation 'R0144:Atp8b1'
| ID |
22542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
038429-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0144 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to C
at 64704445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.0%
|
| Validation Efficiency |
100% (90/90) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,652,739 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
A |
3: 97,073,145 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,780,224 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,109,233 (GRCm39) |
I674V |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,737,839 (GRCm39) |
N1823K |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,416,947 (GRCm39) |
S396T |
probably damaging |
Het |
| Btnl6 |
G |
T |
17: 34,732,994 (GRCm39) |
R290S |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,643,797 (GRCm39) |
R957G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,656,417 (GRCm39) |
L132P |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Ceacam15 |
G |
T |
7: 16,407,116 (GRCm39) |
H134N |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,620,161 (GRCm39) |
I46V |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,441,902 (GRCm39) |
D722G |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,907,243 (GRCm39) |
D628V |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,441,838 (GRCm39) |
V342E |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,652 (GRCm39) |
V64A |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,971,934 (GRCm39) |
G1345V |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,989,831 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,023,735 (GRCm39) |
G1142D |
probably benign |
Het |
| Etv2 |
C |
A |
7: 30,334,308 (GRCm39) |
A142S |
probably benign |
Het |
| Fam110c |
C |
A |
12: 31,124,500 (GRCm39) |
T154K |
unknown |
Het |
| Fbxo17 |
C |
G |
7: 28,434,765 (GRCm39) |
D183E |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,170,964 (GRCm39) |
W681R |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,045 (GRCm39) |
Y413H |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,511,830 (GRCm39) |
|
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,510,411 (GRCm39) |
M1T |
probably null |
Het |
| H2-M10.6 |
G |
A |
17: 37,123,133 (GRCm39) |
C22Y |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,889,751 (GRCm39) |
D2432G |
probably damaging |
Het |
| Il13 |
T |
C |
11: 53,524,003 (GRCm39) |
D60G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,668 (GRCm39) |
L479P |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,228,653 (GRCm39) |
Q1314L |
probably damaging |
Het |
| Jrk |
C |
T |
15: 74,578,005 (GRCm39) |
G427S |
probably benign |
Het |
| Kcnb1 |
T |
G |
2: 166,946,467 (GRCm39) |
N794H |
probably damaging |
Het |
| Klhl8 |
A |
T |
5: 104,015,804 (GRCm39) |
S361R |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,542 (GRCm39) |
Y37C |
probably benign |
Het |
| Lbp |
A |
T |
2: 158,161,630 (GRCm39) |
S231C |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,532,071 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,805 (GRCm39) |
|
probably null |
Het |
| Lypd11 |
A |
G |
7: 24,423,015 (GRCm39) |
V101A |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,340,719 (GRCm39) |
M81T |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,316,849 (GRCm39) |
T618A |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,389,080 (GRCm39) |
D128G |
probably damaging |
Het |
| Mix23 |
A |
T |
16: 35,905,484 (GRCm39) |
N92I |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,047,970 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,798,687 (GRCm39) |
Q901L |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,608,948 (GRCm39) |
R640G |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,647,251 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,283,421 (GRCm39) |
N422S |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,953 (GRCm39) |
Y88N |
probably damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,315,162 (GRCm39) |
A358T |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,747 (GRCm39) |
I216F |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,178 (GRCm39) |
I258V |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,798,107 (GRCm39) |
N431D |
probably benign |
Het |
| Prss28 |
G |
A |
17: 25,528,424 (GRCm39) |
V16M |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,480,975 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
A |
T |
12: 98,654,868 (GRCm39) |
S700T |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,474,072 (GRCm39) |
V152D |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,153,447 (GRCm39) |
R2286S |
probably damaging |
Het |
| Rflnb |
G |
T |
11: 75,915,789 (GRCm39) |
P102Q |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,718,559 (GRCm39) |
V680I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,370,426 (GRCm39) |
K4742* |
probably null |
Het |
| Rpp40 |
A |
T |
13: 36,085,352 (GRCm39) |
S143T |
probably benign |
Het |
| Rps12 |
A |
G |
10: 23,662,689 (GRCm39) |
I51T |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,285,614 (GRCm39) |
W109R |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,176,615 (GRCm39) |
|
probably null |
Het |
| Tspan5 |
G |
T |
3: 138,604,109 (GRCm39) |
V165L |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,052,291 (GRCm39) |
V385E |
probably benign |
Het |
| Vma21-ps |
T |
A |
4: 52,497,231 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,440 (GRCm39) |
N132I |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,991,665 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,655,671 (GRCm39) |
K766R |
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 |
|
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 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
|
R4560:Atp8b1
|
UTSW |
18 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
R9326:Atp8b1
|
UTSW |
18 |
64,706,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Atp8b1
|
UTSW |
18 |
64,704,476 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTACTCTCCCATGTACCAGAATG -3'
(R):5'- GCCCTGGAAATCACGGACCAATATC -3'
Sequencing Primer
(F):5'- TTGTGTCAGCACCTGAAAATGG -3'
(R):5'- ACCTTTTGAAACAGGTTTCATCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation