Mutagenetix > Incidental Mutation

Incidental Mutation 'R7639:Atp8b1'

590154

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

Ic, FIC1

MMRRC Submission

045697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7639 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64662050-64794342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64697614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 410 (V410A)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025482]

AlphaFold

Q148W0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025482
AA Change: V410A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: V410A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,977,531 (GRCm39)	M381L	probably benign	Het
Abl1	T	A	2: 31,669,173 (GRCm39)	L184Q	probably damaging	Het
Bhmt2	C	T	13: 93,799,822 (GRCm39)	G205R	probably damaging	Het
Bicd1	A	G	6: 149,414,502 (GRCm39)	D405G	possibly damaging	Het
Brip1	A	T	11: 86,043,648 (GRCm39)		probably null	Het
Ccdc180	A	T	4: 45,928,043 (GRCm39)	I1193F	possibly damaging	Het
Cdc14b	A	G	13: 64,353,143 (GRCm39)	C478R	possibly damaging	Het
Celsr1	C	T	15: 85,814,073 (GRCm39)	E1950K	probably benign	Het
Cnot7	A	G	8: 40,960,494 (GRCm39)		probably null	Het
Defa34	A	T	8: 22,155,883 (GRCm39)	K24I	probably benign	Het
Dsg4	G	T	18: 20,582,769 (GRCm39)	D136Y	probably damaging	Het
Dync2h1	C	A	9: 7,141,254 (GRCm39)	V1258F	probably damaging	Het
Erbb3	A	G	10: 128,405,716 (GRCm39)	S1181P	probably damaging	Het
Evl	A	G	12: 108,652,362 (GRCm39)	D366G	probably damaging	Het
Fam234b	A	T	6: 135,202,798 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,018,134 (GRCm39)		probably null	Het
Fbxo46	T	A	7: 18,870,560 (GRCm39)	V393E	probably damaging	Het
Gkap1	T	G	13: 58,411,784 (GRCm39)	K63T	probably damaging	Het
Hfm1	T	A	5: 107,037,791 (GRCm39)	D742V	probably benign	Het
Hfm1	A	G	5: 107,046,341 (GRCm39)	V515A	possibly damaging	Het
Itga10	G	A	3: 96,556,898 (GRCm39)	V207I	probably benign	Het
Lipi	T	A	16: 75,357,743 (GRCm39)	Y274F	probably benign	Het
Mettl8	A	T	2: 70,812,526 (GRCm39)	S36R	probably benign	Het
Miip	A	T	4: 147,947,021 (GRCm39)	M244K	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nav1	T	C	1: 135,398,860 (GRCm39)	N574S	probably benign	Het
Nlrc4	C	T	17: 74,754,952 (GRCm39)		probably null	Het
Oas2	C	T	5: 120,883,751 (GRCm39)	W244*	probably null	Het
Oat	A	T	7: 132,168,530 (GRCm39)	I163N	probably damaging	Het
Or7a41	A	G	10: 78,871,206 (GRCm39)	D192G	probably damaging	Het
Otop3	T	C	11: 115,235,187 (GRCm39)	M273T	possibly damaging	Het
Poln	A	C	5: 34,290,495 (GRCm39)	V60G	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,049 (GRCm39)	A699E	probably damaging	Het
Rims1	A	T	1: 22,844,750 (GRCm39)	M19K	probably benign	Het
Rnf145	T	C	11: 44,422,184 (GRCm39)	L89P	probably damaging	Het
Rock1	A	G	18: 10,140,244 (GRCm39)	S116P	probably damaging	Het
Rtn3	C	T	19: 7,435,356 (GRCm39)	C212Y	probably benign	Het
Smcp	G	A	3: 92,491,797 (GRCm39)	P17S	unknown	Het
Syne2	A	C	12: 75,981,273 (GRCm39)	E1525A	probably damaging	Het
Tpra1	A	G	6: 88,887,158 (GRCm39)	D172G	probably benign	Het
Traf2	TAGA	TA	2: 25,427,100 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,957,137 (GRCm39)	T760A	probably benign	Het
Unc13c	T	A	9: 73,840,450 (GRCm39)	S134C	probably damaging	Het
Zfp729b	C	T	13: 67,739,971 (GRCm39)	V765I	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
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
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'- GTCCCGTTAATGCAGCACTT -3'
(R):5'- ACTCACACACGCGCATGT -3'

Sequencing Primer
(F):5'- CCGTTAATGCAGCACTTTTTGAAGG -3'
(R):5'- CACGCGCATGTGCACAC -3'

Posted On

2019-10-24