Incidental Mutation 'R4774:Atp8b1'
ID |
367812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
042412-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4774 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64666730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1156
(C1156R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025482
AA Change: C1156R
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: C1156R
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 |
|
Meta Mutation Damage Score |
0.5328 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
98% (97/99) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,585,043 (GRCm39) |
I844V |
probably damaging |
Het |
Acnat1 |
T |
A |
4: 49,450,784 (GRCm39) |
Y109F |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,054,033 (GRCm39) |
V205A |
probably benign |
Het |
Arl6ip1 |
G |
A |
7: 117,721,208 (GRCm39) |
R77C |
probably damaging |
Het |
Atp8b3 |
A |
C |
10: 80,372,156 (GRCm39) |
N24K |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,273,954 (GRCm39) |
V209A |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,113,596 (GRCm39) |
C1234S |
probably damaging |
Het |
Caml |
A |
G |
13: 55,779,740 (GRCm39) |
D271G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,944,006 (GRCm39) |
D545G |
probably benign |
Het |
Catspere1 |
T |
C |
1: 177,765,304 (GRCm39) |
|
noncoding transcript |
Het |
Cep128 |
T |
C |
12: 91,200,969 (GRCm39) |
E347G |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,415,713 (GRCm39) |
T408A |
possibly damaging |
Het |
Coa8 |
A |
G |
12: 111,679,823 (GRCm39) |
T33A |
possibly damaging |
Het |
Cog1 |
G |
A |
11: 113,548,253 (GRCm39) |
R18Q |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,259,671 (GRCm39) |
F1338L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,059,369 (GRCm39) |
H2122R |
probably benign |
Het |
Ctu2 |
T |
G |
8: 123,207,851 (GRCm39) |
S26A |
probably benign |
Het |
Dbf4 |
G |
A |
5: 8,453,062 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,116 (GRCm39) |
D663E |
probably benign |
Het |
Dpep2 |
T |
C |
8: 106,717,388 (GRCm39) |
T123A |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,613,976 (GRCm39) |
I274T |
probably damaging |
Het |
Eif3b |
A |
G |
5: 140,405,255 (GRCm39) |
D47G |
probably benign |
Het |
Epas1 |
T |
C |
17: 87,113,186 (GRCm39) |
V124A |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,449,798 (GRCm39) |
L668P |
probably damaging |
Het |
Fnip2 |
C |
A |
3: 79,373,028 (GRCm39) |
E1017* |
probably null |
Het |
Gm43517 |
A |
T |
12: 49,436,690 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,491,345 (GRCm39) |
|
probably null |
Het |
H2-Eb2 |
T |
A |
17: 34,553,375 (GRCm39) |
V187E |
probably damaging |
Het |
H2-Q1 |
T |
C |
17: 35,540,242 (GRCm39) |
|
probably benign |
Het |
Hpgd |
T |
C |
8: 56,751,454 (GRCm39) |
V94A |
probably damaging |
Het |
Htra1 |
T |
A |
7: 130,586,756 (GRCm39) |
N446K |
probably benign |
Het |
Igkv3-4 |
T |
A |
6: 70,649,269 (GRCm39) |
S89R |
probably damaging |
Het |
Immt |
C |
T |
6: 71,829,720 (GRCm39) |
T142I |
probably damaging |
Het |
Itpkb |
C |
A |
1: 180,245,759 (GRCm39) |
P759T |
probably damaging |
Het |
Jmjd1c |
G |
A |
10: 67,060,571 (GRCm39) |
V688I |
possibly damaging |
Het |
Kbtbd13 |
G |
T |
9: 65,298,025 (GRCm39) |
R304S |
probably benign |
Het |
Lama5 |
A |
C |
2: 179,827,734 (GRCm39) |
L2176R |
probably damaging |
Het |
Lrp1b |
G |
C |
2: 40,551,544 (GRCm39) |
L418V |
probably null |
Het |
Lrrc4b |
C |
A |
7: 44,111,796 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,915,182 (GRCm39) |
N3292S |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,219,241 (GRCm39) |
I132F |
probably benign |
Het |
Mettl2 |
A |
G |
11: 105,017,436 (GRCm39) |
|
probably null |
Het |
Nherf2 |
T |
C |
17: 24,863,873 (GRCm39) |
M1V |
probably null |
Het |
Niban1 |
A |
T |
1: 151,591,445 (GRCm39) |
D529V |
probably damaging |
Het |
Nmd3 |
T |
C |
3: 69,652,569 (GRCm39) |
L385S |
probably benign |
Het |
Nol4 |
T |
C |
18: 23,045,683 (GRCm39) |
E243G |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,597,804 (GRCm39) |
S571R |
probably damaging |
Het |
Or4l1 |
T |
A |
14: 50,166,726 (GRCm39) |
I92F |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,661,795 (GRCm39) |
I38T |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,129,042 (GRCm39) |
N294I |
possibly damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,519 (GRCm39) |
I207T |
probably benign |
Het |
Pcnp |
A |
G |
16: 55,837,522 (GRCm39) |
|
probably benign |
Het |
Pla2g6 |
A |
C |
15: 79,171,818 (GRCm39) |
C680G |
probably damaging |
Het |
Plekha7 |
G |
T |
7: 115,744,178 (GRCm39) |
D661E |
probably damaging |
Het |
Prim1 |
A |
T |
10: 127,862,887 (GRCm39) |
|
probably benign |
Het |
Psg29 |
T |
A |
7: 16,944,460 (GRCm39) |
N323K |
probably benign |
Het |
Ptrh2 |
G |
A |
11: 86,580,833 (GRCm39) |
R150H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,398,621 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,627,501 (GRCm39) |
D667G |
probably benign |
Het |
Rnase2a |
T |
C |
14: 51,493,201 (GRCm39) |
N55D |
probably damaging |
Het |
Rsf1 |
GCGGCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
Sbp |
T |
A |
17: 24,164,218 (GRCm39) |
N133K |
probably damaging |
Het |
Scml4 |
A |
G |
10: 42,833,743 (GRCm39) |
|
probably benign |
Het |
Sema5b |
T |
A |
16: 35,483,552 (GRCm39) |
N1063K |
probably damaging |
Het |
Serpind1 |
C |
T |
16: 17,154,272 (GRCm39) |
T33M |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,602,057 (GRCm39) |
L80* |
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,782,602 (GRCm39) |
D1039G |
probably benign |
Het |
Spon1 |
A |
G |
7: 113,639,102 (GRCm39) |
E776G |
probably damaging |
Het |
Tdp1 |
C |
T |
12: 99,868,623 (GRCm39) |
A259V |
possibly damaging |
Het |
Tex46 |
C |
A |
4: 136,337,991 (GRCm39) |
P61Q |
probably benign |
Het |
Tnr |
T |
A |
1: 159,724,636 (GRCm39) |
L1109Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpra1 |
G |
A |
6: 88,887,661 (GRCm39) |
|
probably benign |
Het |
Trim43c |
A |
T |
9: 88,729,705 (GRCm39) |
H383L |
possibly damaging |
Het |
Trip6 |
A |
G |
5: 137,308,433 (GRCm39) |
C439R |
probably damaging |
Het |
Tsen2 |
C |
T |
6: 115,552,894 (GRCm39) |
S398L |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,576,074 (GRCm39) |
D863G |
probably damaging |
Het |
Ube2d2a |
A |
G |
18: 35,903,498 (GRCm39) |
|
probably benign |
Het |
Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,534,278 (GRCm39) |
E933V |
probably damaging |
Het |
Vmn1r208 |
A |
G |
13: 22,956,646 (GRCm39) |
F284L |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,334,692 (GRCm39) |
R323* |
probably null |
Het |
Zan |
G |
A |
5: 137,387,281 (GRCm39) |
T4924I |
unknown |
Het |
Zfp597 |
G |
T |
16: 3,683,851 (GRCm39) |
Q302K |
probably benign |
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 |
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'- AAAATTCTTATCAGCCTTCCCACAG -3'
(R):5'- CCATTTCTGGAGCAGTATGAGG -3'
Sequencing Primer
(F):5'- TTCCCACAGGCTTTCAGC -3'
(R):5'- TAATGAGATTGGACGCCCTC -3'
|
Posted On |
2015-12-29 |