Incidental Mutation 'IGL02227:Atp8b1'
| ID |
285576 |
| 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 # |
IGL02227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64695261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 485
(H485N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: H485N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: H485N
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,987,402 (GRCm39) |
E662G |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,881,196 (GRCm39) |
S262P |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,591,497 (GRCm39) |
V263A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,123,152 (GRCm39) |
L454P |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,164 (GRCm39) |
F280I |
possibly damaging |
Het |
| Atrip |
A |
G |
9: 108,890,732 (GRCm39) |
S91P |
possibly damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,458,237 (GRCm39) |
V590A |
probably benign |
Het |
| Brf1 |
C |
A |
12: 112,925,394 (GRCm39) |
R590S |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,296,788 (GRCm39) |
D197V |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,632,217 (GRCm39) |
E257G |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,989 (GRCm39) |
D564G |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,643 (GRCm39) |
V434I |
probably benign |
Het |
| Cfap410 |
A |
G |
10: 77,818,784 (GRCm39) |
N152D |
possibly damaging |
Het |
| Cltc |
C |
T |
11: 86,588,166 (GRCm39) |
V1610M |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,198 (GRCm39) |
F473L |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,939,254 (GRCm39) |
K165E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,634 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,821,587 (GRCm39) |
S251G |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,098,035 (GRCm39) |
V282E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,476,696 (GRCm39) |
L1914P |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,349 (GRCm39) |
I611T |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 93,969,946 (GRCm39) |
M1198I |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 166,275,931 (GRCm39) |
I379F |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,852,126 (GRCm39) |
D123E |
probably benign |
Het |
| Hc |
T |
G |
2: 34,899,923 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,981,089 (GRCm39) |
Y781C |
probably damaging |
Het |
| Hfe |
T |
C |
13: 23,890,926 (GRCm39) |
E71G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,116,919 (GRCm39) |
|
probably benign |
Het |
| Ifnk |
G |
A |
4: 35,152,642 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
A |
15: 44,977,670 (GRCm39) |
G123C |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,633 (GRCm39) |
I32N |
possibly damaging |
Het |
| Lpl |
T |
C |
8: 69,348,452 (GRCm39) |
V227A |
probably damaging |
Het |
| Lurap1l |
A |
T |
4: 80,872,094 (GRCm39) |
S196C |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,084,528 (GRCm39) |
L91P |
possibly damaging |
Het |
| Nelfe |
C |
A |
17: 35,073,330 (GRCm39) |
D288E |
probably benign |
Het |
| Or5p1 |
T |
A |
7: 107,916,408 (GRCm39) |
C102* |
probably null |
Het |
| Otof |
T |
C |
5: 30,528,128 (GRCm39) |
E1905G |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,323 (GRCm39) |
I148T |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,913,425 (GRCm39) |
V145F |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,056,474 (GRCm39) |
S4510P |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,434,397 (GRCm39) |
E641G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,299,779 (GRCm39) |
L96S |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,105,185 (GRCm39) |
T434M |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,568,245 (GRCm39) |
N184K |
possibly damaging |
Het |
| Prkar1a |
G |
A |
11: 109,551,001 (GRCm39) |
|
probably benign |
Het |
| Psmb1 |
A |
T |
17: 15,710,546 (GRCm39) |
M1K |
probably null |
Het |
| Pwwp2a |
T |
C |
11: 43,596,448 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,719,527 (GRCm39) |
R516W |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,487,172 (GRCm39) |
D601G |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,565,356 (GRCm39) |
V467A |
possibly damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,457 (GRCm39) |
T121P |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,939,401 (GRCm39) |
C197* |
probably null |
Het |
| Srrt |
G |
A |
5: 137,294,536 (GRCm39) |
T790M |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,936,453 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
G |
A |
6: 132,928,357 (GRCm39) |
W98* |
probably null |
Het |
| Thoc5 |
A |
C |
11: 4,876,217 (GRCm39) |
M609L |
probably benign |
Het |
| Tnip1 |
G |
A |
11: 54,827,297 (GRCm39) |
T155M |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,618,672 (GRCm39) |
V14458A |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,766,809 (GRCm39) |
E61G |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,307 (GRCm39) |
K151E |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,378 (GRCm39) |
M260V |
probably benign |
Het |
| Vwa7 |
G |
T |
17: 35,239,060 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp366 |
G |
T |
13: 99,370,696 (GRCm39) |
R472L |
possibly damaging |
Het |
| Zfp811 |
A |
T |
17: 33,017,616 (GRCm39) |
Y141* |
probably null |
Het |
| Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation