Mutagenetix > Incidental Mutation

Incidental Mutation 'R5651:Atp8b1'

441453

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

Ic, FIC1

MMRRC Submission

043297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5651 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64662050-64794342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 64664453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1238 (I1238M)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

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

AlphaFold

Q148W0

Predicted Effect

probably benign
Transcript: ENSMUST00000025482
AA Change: I1238M

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: I1238M

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	A	11: 48,910,700 (GRCm39)	H578Y	probably damaging	Het
Atp11b	A	G	3: 35,909,289 (GRCm39)	D1161G	probably damaging	Het
AY358078	T	A	14: 52,059,617 (GRCm39)	V318D	unknown	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Boc	T	A	16: 44,341,558 (GRCm39)	I16F	probably benign	Het
Brinp3	A	T	1: 146,577,537 (GRCm39)	T191S	probably benign	Het
Cald1	T	A	6: 34,739,255 (GRCm39)	N419K	probably damaging	Het
Cecr2	G	A	6: 120,732,521 (GRCm39)	G471D	probably damaging	Het
Cftr	T	A	6: 18,255,364 (GRCm39)		probably null	Het
Cyp2c38	T	A	19: 39,449,156 (GRCm39)	T66S	probably damaging	Het
Fbxo11	A	T	17: 88,323,136 (GRCm39)	D83E	probably benign	Het
Fshr	T	A	17: 89,293,257 (GRCm39)	M474L	possibly damaging	Het
Hhla1	T	A	15: 65,813,663 (GRCm39)	E223V	probably damaging	Het
Hnrnpa1	G	C	15: 103,148,955 (GRCm39)	E5D	possibly damaging	Het
Htr2a	T	A	14: 74,943,143 (GRCm39)	V241E	probably damaging	Het
Ier5	T	C	1: 154,974,491 (GRCm39)	E229G	possibly damaging	Het
Inka2	C	A	3: 105,623,748 (GRCm39)	Q22K	probably damaging	Het
Krt87	A	T	15: 101,331,910 (GRCm39)	M276K	possibly damaging	Het
Mast1	G	C	8: 85,655,597 (GRCm39)	Y182*	probably null	Het
Mia3	T	A	1: 183,139,998 (GRCm39)	D239V	probably damaging	Het
Mmut	T	A	17: 41,258,002 (GRCm39)	D389E	probably damaging	Het
Mpp7	A	G	18: 7,355,016 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,520,101 (GRCm39)	C739R	probably null	Het
Or13e8	C	G	4: 43,696,636 (GRCm39)	C179S	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or8k21	A	G	2: 86,144,784 (GRCm39)	I282T	probably benign	Het
Or9e1	A	T	11: 58,732,317 (GRCm39)	R126*	probably null	Het
Palld	A	T	8: 61,991,822 (GRCm39)	I510N	probably damaging	Het
Pappa	A	G	4: 65,074,589 (GRCm39)	E381G	probably damaging	Het
Phldb1	G	A	9: 44,623,200 (GRCm39)	T618I	probably damaging	Het
Pkd1	A	G	17: 24,810,361 (GRCm39)	E3631G	possibly damaging	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Plk4	A	G	3: 40,767,940 (GRCm39)	T828A	probably benign	Het
Psmb5	C	T	14: 54,854,221 (GRCm39)	A86T	possibly damaging	Het
Rasal2	A	G	1: 156,984,951 (GRCm39)	V907A	probably damaging	Het
Rxra	C	T	2: 27,627,353 (GRCm39)	T24M	probably benign	Het
Senp1	A	G	15: 97,974,498 (GRCm39)	S105P	probably benign	Het
Sh3rf1	A	G	8: 61,816,201 (GRCm39)	D486G	probably damaging	Het
Slc49a4	G	A	16: 35,555,986 (GRCm39)	A158V	probably benign	Het
Slfn5	A	C	11: 82,851,490 (GRCm39)	N596H	probably benign	Het
Tanc2	T	A	11: 105,689,526 (GRCm39)	D229E	probably benign	Het
Taok2	T	C	7: 126,479,455 (GRCm39)	K57E	probably damaging	Het
Thsd7a	C	T	6: 12,343,212 (GRCm39)	C1135Y	probably damaging	Het
V1ra8	T	C	6: 90,180,508 (GRCm39)	L237P	probably benign	Het
Vcpip1	G	A	1: 9,818,065 (GRCm39)	T106M	probably damaging	Het
Vmn1r215	T	G	13: 23,259,981 (GRCm39)	I7S	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,279 (GRCm39)	M224L	probably benign	Het
Xpot	A	T	10: 121,440,454 (GRCm39)	D592E	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
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
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'- CTTGGCTTTGCGATTGCTTAAC -3'
(R):5'- ATCCAGAAGCATCGAAAGCG -3'

Sequencing Primer
(F):5'- ACAGCACAATCCTAGAAGTTTATTG -3'
(R):5'- TCGAAAGCGATTGAAGGCTG -3'

Posted On

2016-11-08