Incidental Mutation 'PIT4520001:Atp8b1'
ID |
555208 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4520001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64701251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 369
(Y369C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: Y369C
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: Y369C
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: 93.5%
- 3x: 91.1%
- 10x: 86.1%
- 20x: 75.5%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,117,133 (GRCm39) |
N1000S |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,413,508 (GRCm39) |
D564G |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,207,390 (GRCm39) |
E12G |
probably benign |
Het |
Arid1a |
C |
T |
4: 133,409,227 (GRCm39) |
S1375N |
unknown |
Het |
Atp1a2 |
G |
A |
1: 172,106,941 (GRCm39) |
A793V |
probably benign |
Het |
Catsperg2 |
A |
G |
7: 29,409,586 (GRCm39) |
Y536H |
possibly damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,470 (GRCm39) |
Y445H |
probably damaging |
Het |
Cep170 |
G |
T |
1: 176,607,765 (GRCm39) |
N230K |
unknown |
Het |
Cftr |
A |
G |
6: 18,277,842 (GRCm39) |
I977V |
probably benign |
Het |
Chek2 |
A |
G |
5: 111,011,195 (GRCm39) |
Y331C |
probably damaging |
Het |
Chst13 |
A |
T |
6: 90,286,167 (GRCm39) |
I265K |
probably benign |
Het |
Coil |
T |
C |
11: 88,872,437 (GRCm39) |
M266T |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,945,456 (GRCm39) |
C28S |
unknown |
Het |
Col3a1 |
T |
C |
1: 45,374,943 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,956,023 (GRCm39) |
V3395M |
probably benign |
Het |
Cyp51 |
A |
G |
5: 4,151,200 (GRCm39) |
V143A |
probably damaging |
Het |
Eif2ak1 |
C |
T |
5: 143,836,027 (GRCm39) |
Q573* |
probably null |
Het |
Eif2ak4 |
T |
A |
2: 118,292,808 (GRCm39) |
I1344N |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,579,779 (GRCm39) |
Q809* |
probably null |
Het |
Gen1 |
A |
G |
12: 11,291,509 (GRCm39) |
V825A |
probably benign |
Het |
Gm28042 |
A |
T |
2: 119,870,148 (GRCm39) |
K696* |
probably null |
Het |
Gm4952 |
A |
G |
19: 12,602,048 (GRCm39) |
Y152C |
probably benign |
Het |
Hdac3 |
G |
A |
18: 38,074,817 (GRCm39) |
T308I |
probably damaging |
Het |
Hpx |
T |
C |
7: 105,241,341 (GRCm39) |
T357A |
probably benign |
Het |
Hscb |
A |
T |
5: 110,983,851 (GRCm39) |
Y139N |
probably damaging |
Het |
Kcnk9 |
T |
A |
15: 72,384,332 (GRCm39) |
H282L |
probably benign |
Het |
Kdm2b |
G |
A |
5: 123,079,110 (GRCm39) |
T287M |
probably damaging |
Het |
Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,520,664 (GRCm39) |
N1815K |
probably benign |
Het |
Ktn1 |
C |
T |
14: 47,923,774 (GRCm39) |
T511M |
probably damaging |
Het |
Lrp1 |
C |
G |
10: 127,443,843 (GRCm39) |
Q141H |
possibly damaging |
Het |
Lrrc43 |
T |
C |
5: 123,630,530 (GRCm39) |
V131A |
possibly damaging |
Het |
Man1b1 |
T |
A |
2: 25,233,282 (GRCm39) |
H218Q |
probably damaging |
Het |
Mapk8ip2 |
T |
A |
15: 89,344,900 (GRCm39) |
C766S |
probably damaging |
Het |
Mfn1 |
A |
G |
3: 32,615,695 (GRCm39) |
N353D |
probably benign |
Het |
Mtcl1 |
A |
T |
17: 66,692,907 (GRCm39) |
L474Q |
possibly damaging |
Het |
Mtr |
T |
A |
13: 12,212,871 (GRCm39) |
R915* |
probably null |
Het |
Myh6 |
C |
A |
14: 55,187,581 (GRCm39) |
V1263L |
probably benign |
Het |
Nt5m |
C |
A |
11: 59,765,415 (GRCm39) |
L148M |
probably benign |
Het |
Or4a67 |
A |
G |
2: 88,597,921 (GRCm39) |
V246A |
possibly damaging |
Het |
Or51t4 |
A |
T |
7: 102,597,921 (GRCm39) |
D83V |
probably damaging |
Het |
Or8k21 |
T |
C |
2: 86,145,142 (GRCm39) |
I163V |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,789,818 (GRCm39) |
F811I |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,256,069 (GRCm39) |
S724P |
probably damaging |
Het |
Pfdn5 |
C |
A |
15: 102,237,158 (GRCm39) |
D98E |
probably benign |
Het |
Ptprs |
G |
A |
17: 56,721,980 (GRCm39) |
P1715S |
probably damaging |
Het |
Rtkn2 |
T |
A |
10: 67,823,291 (GRCm39) |
L65Q |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,518,763 (GRCm39) |
R379H |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,363,636 (GRCm39) |
D501E |
possibly damaging |
Het |
Spn |
C |
A |
7: 126,735,611 (GRCm39) |
G299W |
probably damaging |
Het |
St6galnac1 |
T |
C |
11: 116,660,175 (GRCm39) |
N46S |
probably benign |
Het |
Stx19 |
A |
G |
16: 62,642,871 (GRCm39) |
D229G |
probably benign |
Het |
Tmc6 |
A |
T |
11: 117,663,556 (GRCm39) |
M552K |
possibly damaging |
Het |
Tnpo3 |
G |
C |
6: 29,555,221 (GRCm39) |
D787E |
possibly damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,674 (GRCm39) |
Y310C |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,434,871 (GRCm39) |
F611S |
probably damaging |
Het |
Vmn2r49 |
C |
T |
7: 9,722,988 (GRCm39) |
M95I |
probably benign |
Het |
Wfdc8 |
A |
G |
2: 164,445,223 (GRCm39) |
S131P |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,450,545 (GRCm39) |
M1597K |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAAATGATTATTGCTAAGACGCGG -3'
(R):5'- TCAAAGCATCTCTACAGTCCTG -3'
Sequencing Primer
(F):5'- AGACGCGGCATTTATTATACCTGG -3'
(R):5'- AAAGCATCTCTACAGTCCTGTTTCC -3'
|
Posted On |
2019-06-07 |