Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Atp8b1'

595599

Institutional Source

Beutler Lab

Gene Symbol

Atp8b1

Ensembl Gene

ENSMUSG00000039529

Gene Name

ATPase, class I, type 8B, member 1

Synonyms

FIC1, Ic

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64528979-64661000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64545275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 850 (Q850L)

Ref Sequence

ENSEMBL: ENSMUSP00000025482 (fasta)

Gene Model

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

AlphaFold

Q148W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025482
AA Change: Q850L

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

SMART Domains

Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: Q850L

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Atp8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Atp8b1	APN	18	64564430	missense	probably benign	0.23
IGL00907:Atp8b1	APN	18	64561705	missense	possibly damaging	0.95
IGL00962:Atp8b1	APN	18	64531444	missense	probably damaging	1.00
IGL01433:Atp8b1	APN	18	64573519	missense	probably benign	0.00
IGL01525:Atp8b1	APN	18	64539252	nonsense	probably null
IGL01645:Atp8b1	APN	18	64546113	missense	probably benign	0.06
IGL02008:Atp8b1	APN	18	64538695	splice site	probably benign
IGL02227:Atp8b1	APN	18	64562190	missense	probably benign
IGL02231:Atp8b1	APN	18	64550384	missense	possibly damaging	0.94
IGL02326:Atp8b1	APN	18	64538583	missense	probably damaging	0.99
IGL02562:Atp8b1	APN	18	64581986	missense	probably benign
IGL02929:Atp8b1	APN	18	64561662	missense	possibly damaging	0.63
enchilada	UTSW	18	64545989	critical splice donor site	probably null
PIT4520001:Atp8b1	UTSW	18	64568180	missense	probably benign	0.34
PIT4696001:Atp8b1	UTSW	18	64539270	missense	possibly damaging	0.93
R0144:Atp8b1	UTSW	18	64571374	splice site	probably benign
R0193:Atp8b1	UTSW	18	64561636	missense	probably benign
R0277:Atp8b1	UTSW	18	64568252	missense	possibly damaging	0.94
R0308:Atp8b1	UTSW	18	64545244	nonsense	probably null
R0323:Atp8b1	UTSW	18	64568252	missense	possibly damaging	0.94
R0403:Atp8b1	UTSW	18	64540310	missense	probably damaging	1.00
R0601:Atp8b1	UTSW	18	64571653	splice site	probably null
R0614:Atp8b1	UTSW	18	64533587	splice site	probably benign
R0883:Atp8b1	UTSW	18	64564541	missense	probably benign	0.44
R1077:Atp8b1	UTSW	18	64573262	nonsense	probably null
R1292:Atp8b1	UTSW	18	64571021	missense	probably damaging	0.99
R1494:Atp8b1	UTSW	18	64564526	missense	probably damaging	1.00
R1522:Atp8b1	UTSW	18	64550432	missense	probably benign	0.00
R1534:Atp8b1	UTSW	18	64545264	missense	probably damaging	1.00
R1535:Atp8b1	UTSW	18	64545264	missense	probably damaging	1.00
R1536:Atp8b1	UTSW	18	64545264	missense	probably damaging	1.00
R1537:Atp8b1	UTSW	18	64545264	missense	probably damaging	1.00
R1650:Atp8b1	UTSW	18	64571549	splice site	probably benign
R1772:Atp8b1	UTSW	18	64573492	missense	possibly damaging	0.88
R2016:Atp8b1	UTSW	18	64540334	missense	probably damaging	1.00
R2017:Atp8b1	UTSW	18	64540334	missense	probably damaging	1.00
R2043:Atp8b1	UTSW	18	64605200	missense	possibly damaging	0.94
R2223:Atp8b1	UTSW	18	64564357	missense	possibly damaging	0.88
R3052:Atp8b1	UTSW	18	64553108	missense	probably benign	0.04
R3694:Atp8b1	UTSW	18	64533721	missense	possibly damaging	0.81
R3738:Atp8b1	UTSW	18	64533729	splice site	probably benign
R4211:Atp8b1	UTSW	18	64553047	missense	probably damaging	1.00
R4362:Atp8b1	UTSW	18	64564537	missense	probably damaging	1.00
R4560:Atp8b1	UTSW	18	64556879	nonsense	probably null
R4560:Atp8b1	UTSW	18	64568247	missense	probably benign	0.11
R4562:Atp8b1	UTSW	18	64556891	missense	probably damaging	1.00
R4615:Atp8b1	UTSW	18	64553099	missense	probably null
R4676:Atp8b1	UTSW	18	64538678	missense	probably benign	0.01
R4738:Atp8b1	UTSW	18	64545180	missense	probably benign	0.31
R4774:Atp8b1	UTSW	18	64533659	missense	possibly damaging	0.49
R4808:Atp8b1	UTSW	18	64561711	missense	probably benign	0.01
R4868:Atp8b1	UTSW	18	64551866	missense	probably damaging	1.00
R5162:Atp8b1	UTSW	18	64561662	missense	possibly damaging	0.63
R5289:Atp8b1	UTSW	18	64546087	missense	possibly damaging	0.51
R5328:Atp8b1	UTSW	18	64531391	missense	probably benign	0.00
R5400:Atp8b1	UTSW	18	64545989	critical splice donor site	probably null
R5587:Atp8b1	UTSW	18	64539210	missense	probably damaging	1.00
R5623:Atp8b1	UTSW	18	64546094	missense	possibly damaging	0.85
R5651:Atp8b1	UTSW	18	64531382	missense	probably benign	0.31
R5652:Atp8b1	UTSW	18	64531382	missense	probably benign	0.31
R5653:Atp8b1	UTSW	18	64545197	missense	probably damaging	1.00
R5667:Atp8b1	UTSW	18	64581923	missense	probably damaging	1.00
R5689:Atp8b1	UTSW	18	64564537	missense	probably damaging	1.00
R6008:Atp8b1	UTSW	18	64577616	missense	probably damaging	1.00
R6315:Atp8b1	UTSW	18	64531479	missense	probably damaging	0.97
R6759:Atp8b1	UTSW	18	64546090	missense	probably benign	0.00
R6850:Atp8b1	UTSW	18	64556852	missense	possibly damaging	0.94
R7255:Atp8b1	UTSW	18	64556868	missense	probably damaging	1.00
R7606:Atp8b1	UTSW	18	64555115	missense	probably damaging	1.00
R7635:Atp8b1	UTSW	18	64573305	missense	possibly damaging	0.59
R7639:Atp8b1	UTSW	18	64564543	missense	possibly damaging	0.91
R7698:Atp8b1	UTSW	18	64571022	missense	probably benign	0.03
R7779:Atp8b1	UTSW	18	64541382	missense	probably damaging	1.00
R7785:Atp8b1	UTSW	18	64556850	missense	probably damaging	1.00
R7874:Atp8b1	UTSW	18	64571024	missense	probably benign	0.30
R7990:Atp8b1	UTSW	18	64538677	missense	possibly damaging	0.91
R8020:Atp8b1	UTSW	18	64546013	missense	probably damaging	1.00
R8161:Atp8b1	UTSW	18	64556987	missense	probably damaging	1.00
R9007:Atp8b1	UTSW	18	64551860	missense	probably benign	0.40
R9064:Atp8b1	UTSW	18	64564420	missense	probably benign	0.12
R9266:Atp8b1	UTSW	18	64571037	missense	probably benign	0.08
R9266:Atp8b1	UTSW	18	64577457	missense	possibly damaging	0.70
R9326:Atp8b1	UTSW	18	64573273	missense	probably damaging	1.00
X0025:Atp8b1	UTSW	18	64571405	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCACAAGCCACCTTCGTAC -3'
(R):5'- CTTCCCAGGACTCAAATCTTGG -3'

Sequencing Primer
(F):5'- CGTACAACTCACTTTTGATCATGTTG -3'
(R):5'- ACTCAAATCTTGGGAGTGGTACTC -3'

Posted On

2019-11-12