Incidental Mutation 'R5652:Atp8b1'
ID 441534
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 043298-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5652 (G1)
Quality Score 225
Status Not validated
Chromosome 18
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

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,856,339 (GRCm39) I334V probably benign Het
Adamts5 C T 16: 85,696,156 (GRCm39) A334T probably damaging Het
Adcy4 G C 14: 56,010,900 (GRCm39) F672L probably benign Het
Adgrl1 A G 8: 84,656,444 (GRCm39) Y254C probably damaging Het
Adnp2 A G 18: 80,174,065 (GRCm39) S115P probably damaging Het
Aox1 A T 1: 58,134,356 (GRCm39) S1110C probably damaging Het
Arhgap44 G T 11: 64,915,064 (GRCm39) N401K probably damaging Het
Atp23 A T 10: 126,735,494 (GRCm39) N63K possibly damaging Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr2 T C 3: 108,304,051 (GRCm39) D2364G probably null Het
Celsr3 G A 9: 108,715,671 (GRCm39) D2116N probably benign Het
Cenpf A G 1: 189,389,279 (GRCm39) S1518P probably damaging Het
Clcn3 C A 8: 61,372,387 (GRCm39) V758L possibly damaging Het
Cmklr2 A G 1: 63,222,626 (GRCm39) V203A probably benign Het
Ctsf T C 19: 4,908,505 (GRCm39) L288P probably damaging Het
Cwh43 A G 5: 73,575,484 (GRCm39) T334A probably damaging Het
Cyp3a57 A T 5: 145,286,135 (GRCm39) probably null Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dennd1a A G 2: 37,691,138 (GRCm39) I260T probably benign Het
Dgkh T C 14: 78,865,201 (GRCm39) H47R probably damaging Het
Dync1h1 G A 12: 110,632,422 (GRCm39) V4514I possibly damaging Het
Dync2h1 A T 9: 7,116,638 (GRCm39) M66K probably benign Het
Fam186a T G 15: 99,843,253 (GRCm39) Y997S possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fat4 C T 3: 39,057,117 (GRCm39) T4271I probably damaging Het
Fdxacb1 T A 9: 50,679,705 (GRCm39) L41Q probably damaging Het
Fgfr2 C T 7: 129,863,593 (GRCm39) V18M probably damaging Het
Gpa33 A C 1: 165,992,714 (GRCm39) probably null Het
Gpr107 A G 2: 31,075,601 (GRCm39) I371V probably benign Het
H1f6 A G 13: 23,880,219 (GRCm39) K124R probably benign Het
Hectd2 T C 19: 36,581,720 (GRCm39) V420A probably damaging Het
Iglc3 A G 16: 18,884,420 (GRCm39) probably benign Het
Igtp A G 11: 58,097,455 (GRCm39) T209A probably benign Het
Itgb7 T A 15: 102,124,638 (GRCm39) N793I possibly damaging Het
Kansl1 G A 11: 104,228,992 (GRCm39) R870C probably damaging Het
Kcnh6 C T 11: 105,899,811 (GRCm39) R27C probably damaging Het
Kif2b T A 11: 91,466,656 (GRCm39) E542D possibly damaging Het
Klhl24 C A 16: 19,938,997 (GRCm39) Y517* probably null Het
Klhl25 A G 7: 75,515,895 (GRCm39) D267G probably benign Het
Krr1 C A 10: 111,813,288 (GRCm39) F195L possibly damaging Het
Lsr C T 7: 30,658,456 (GRCm39) G95D probably damaging Het
Matcap2 A G 9: 22,335,786 (GRCm39) T135A probably benign Het
Med15 A T 16: 17,473,055 (GRCm39) I504N probably damaging Het
Mug1 A G 6: 121,817,140 (GRCm39) R70G probably benign Het
Mypn T A 10: 62,971,580 (GRCm39) Q820L probably damaging Het
Nlrp4f A T 13: 65,330,803 (GRCm39) H863Q probably benign Het
Nudt9 G A 5: 104,207,646 (GRCm39) V213M probably benign Het
Or5ak4 T A 2: 85,161,717 (GRCm39) N175I probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or7g16 A G 9: 18,726,922 (GRCm39) S223P probably damaging Het
Or8c13 T C 9: 38,092,111 (GRCm39) T3A probably benign Het
Orc2 A G 1: 58,505,231 (GRCm39) F475L probably damaging Het
Oxa1l T A 14: 54,604,289 (GRCm39) L183* probably null Het
Pcdh20 T C 14: 88,704,760 (GRCm39) T847A probably damaging Het
Pcdha6 G A 18: 37,101,889 (GRCm39) probably null Het
Pip5k1a T C 3: 94,974,750 (GRCm39) N376S probably benign Het
Pkd1l1 T C 11: 8,859,889 (GRCm39) E573G probably benign Het
Pkp1 T A 1: 135,810,335 (GRCm39) probably null Het
Pum1 T C 4: 130,491,438 (GRCm39) I643T possibly damaging Het
Rapgef3 A G 15: 97,656,318 (GRCm39) S328P probably benign Het
Raver1 A G 9: 21,001,608 (GRCm39) V75A probably damaging Het
Rbm28 T C 6: 29,135,408 (GRCm39) E511G probably damaging Het
Satb1 T A 17: 52,049,823 (GRCm39) T544S probably damaging Het
Sdcbp2 T C 2: 151,431,135 (GRCm39) V248A probably benign Het
Sema7a A G 9: 57,867,942 (GRCm39) D506G probably damaging Het
Septin8 A G 11: 53,428,044 (GRCm39) E286G probably damaging Het
Sh3pxd2b A G 11: 32,372,812 (GRCm39) I660V probably damaging Het
Stk38l G T 6: 146,674,826 (GRCm39) D364Y possibly damaging Het
Sycp2 T C 2: 178,000,498 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,062 (GRCm39) S580T probably damaging Het
Tcerg1l G A 7: 137,881,775 (GRCm39) R305C probably damaging Het
Tek T A 4: 94,743,561 (GRCm39) Y859N probably damaging Het
Tjp1 A T 7: 64,962,191 (GRCm39) probably null Het
Tmem132d A T 5: 127,861,859 (GRCm39) I754N possibly damaging Het
Togaram1 G A 12: 65,063,424 (GRCm39) V1580I probably benign Het
Troap A G 15: 98,980,145 (GRCm39) T442A probably benign Het
Ttn A T 2: 76,712,097 (GRCm39) probably benign Het
Twnk T A 19: 44,995,732 (GRCm39) V55E possibly damaging Het
Uggt1 A T 1: 36,255,234 (GRCm39) Y225* probably null Het
Vmn2r109 A G 17: 20,760,781 (GRCm39) *859Q probably null Het
Vmn2r17 A T 5: 109,577,430 (GRCm39) I494L probably benign Het
Vmn2r88 T C 14: 51,656,029 (GRCm39) V746A probably damaging Het
Yae1d1 A G 13: 18,166,291 (GRCm39) L57P probably damaging Het
Zfp26 G A 9: 20,349,137 (GRCm39) R476* probably null Het
Zmynd8 T A 2: 165,649,618 (GRCm39) Q816L probably damaging Het
Zswim8 A T 14: 20,763,495 (GRCm39) H414L possibly damaging Het
Other mutations in Atp8b1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGCTTTGCGATTGCTTAAC -3'
(R):5'- TCCAGAAGCATCGAAAGCG -3'

Sequencing Primer
(F):5'- ACAGCACAATCCTAGAAGTTTATTG -3'
(R):5'- TCGAAAGCGATTGAAGGCTG -3'
Posted On 2016-11-08