Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Atp8b1'

166850

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

Ic, FIC1

MMRRC Submission

039573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64662050-64794342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64678335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 854 (V854M)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

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

AlphaFold

Q148W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025482
AA Change: V854M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: V854M

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

0.0915

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	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
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'- CTATGATGCCTCAGTCCTGGCAAC -3'
(R):5'- CCCTCTGCTGTCACAGAATGAAATCC -3'

Sequencing Primer
(F):5'- TTCAGCAAGCTGGTGTCAC -3'
(R):5'- GAAGCTGAAGTTCCCAAGGA -3'

Posted On

2014-04-13