Incidental Mutation 'IGL02008:Atp8b1'
ID |
183288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02008
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 64671766 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 |
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,969,750 (GRCm39) |
T2252A |
probably benign |
Het |
Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,291 (GRCm39) |
V161D |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,791,219 (GRCm39) |
T442A |
probably benign |
Het |
Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
Ppfia4 |
G |
A |
1: 134,260,129 (GRCm39) |
R45W |
probably damaging |
Het |
Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
Tbc1d32 |
G |
T |
10: 56,027,871 (GRCm39) |
Q744K |
possibly damaging |
Het |
Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
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 |
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 |
64,689,950 (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 |
|
|
Posted On |
2014-05-07 |