Mutagenetix > Incidental Mutation

Incidental Mutation 'R2223:Atp8b1'

241644

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

Ic, FIC1

MMRRC Submission

040224-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64662050-64794342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64697428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 472 (N472I)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

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

AlphaFold

Q148W0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025482
AA Change: N472I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: N472I

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

0.5779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (59/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,889,296 (GRCm39)		probably benign	Het
Acvr1b	C	T	15: 101,100,924 (GRCm39)	A362V	probably benign	Het
Adamts5	A	C	16: 85,696,194 (GRCm39)	L321R	probably damaging	Het
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,141,412 (GRCm39)	E242G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Cryz	A	T	3: 154,324,191 (GRCm39)	N192I	possibly damaging	Het
Cyp2d11	T	A	15: 82,274,332 (GRCm39)	M350L	probably benign	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Exoc3l4	C	G	12: 111,392,586 (GRCm39)	A471G	possibly damaging	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fmo2	C	T	1: 162,725,813 (GRCm39)	C21Y	probably damaging	Het
Glul	T	A	1: 153,782,243 (GRCm39)		probably null	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,478,153 (GRCm39)	I434V	probably benign	Het
Kctd10	G	T	5: 114,505,410 (GRCm39)	R195S	probably benign	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Luc7l2	T	C	6: 38,542,659 (GRCm39)		probably benign	Het
Magi2	T	A	5: 20,670,670 (GRCm39)	V111D	probably damaging	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mgat4d	G	A	8: 84,082,301 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,292,245 (GRCm39)		probably null	Het
Mx1	T	C	16: 97,256,432 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,046,815 (GRCm39)		probably benign	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Or6c210	T	A	10: 129,495,678 (GRCm39)	M1K	probably null	Het
Pde8b	T	C	13: 95,179,955 (GRCm39)	N318S	probably damaging	Het
Pkd1l1	T	C	11: 8,839,063 (GRCm39)	T874A	probably benign	Het
Pkd1l1	T	C	11: 8,900,422 (GRCm39)	T40A	probably benign	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Ptprn	A	T	1: 75,234,581 (GRCm39)		probably benign	Het
Setx	T	G	2: 29,038,549 (GRCm39)	I1678S	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Sp8	G	A	12: 118,813,473 (GRCm39)	G443S	probably damaging	Het
Stk39	C	T	2: 68,144,923 (GRCm39)	G384S	probably damaging	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Trip10	A	G	17: 57,570,039 (GRCm39)	D568G	possibly damaging	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Uvssa	C	T	5: 33,549,407 (GRCm39)	T356I	probably damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Zfp516	C	A	18: 82,973,895 (GRCm39)	A31D	possibly 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
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
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'- AGGTAGGCTCTGCTCTAGACAG -3'
(R):5'- CAGAGTCATTTCATCAACTGGGAC -3'

Sequencing Primer
(F):5'- AGGGACTGCTGCTTCTACC -3'
(R):5'- TTCATCAACTGGGACCTGCAGATG -3'

Posted On

2014-10-15