Incidental Mutation 'R6008:Atp8b1'
ID 479623
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 044185-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6008 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64710687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 155 (T155K)
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect probably damaging
Transcript: ENSMUST00000025482
AA Change: T155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: T155K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,727,978 (GRCm39) L1268P possibly damaging Het
Acot3 T A 12: 84,103,860 (GRCm39) V223E probably damaging Het
Afap1 T G 5: 36,154,895 (GRCm39) S680A probably damaging Het
Aox1 C T 1: 58,116,672 (GRCm39) A801V probably damaging Het
Bard1 C A 1: 71,069,909 (GRCm39) V690F possibly damaging Het
Btnl9 C A 11: 49,073,792 (GRCm39) probably null Het
C1rl A G 6: 124,470,147 (GRCm39) N13S probably benign Het
Cad C A 5: 31,226,456 (GRCm39) T1166K probably damaging Het
Ckap5 T A 2: 91,393,334 (GRCm39) M405K probably damaging Het
Csn1s1 T C 5: 87,825,944 (GRCm39) probably null Het
Ctnna2 A G 6: 76,892,811 (GRCm39) L792P probably damaging Het
Dennd3 T A 15: 73,438,929 (GRCm39) V1099D possibly damaging Het
Dnai2 A G 11: 114,643,816 (GRCm39) N482S probably benign Het
Dock10 T C 1: 80,583,890 (GRCm39) T184A probably damaging Het
Ear2 T A 14: 44,340,546 (GRCm39) L68H probably damaging Het
Edn3 A G 2: 174,621,525 (GRCm39) T149A probably benign Het
Erf C T 7: 24,945,041 (GRCm39) V131M probably benign Het
Esp34 A G 17: 38,865,118 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gpr17 T A 18: 32,080,530 (GRCm39) T178S probably benign Het
Gsg1l2 T A 11: 67,665,537 (GRCm39) I35N possibly damaging Het
Hmgn3 T A 9: 82,994,284 (GRCm39) T46S probably damaging Het
Hydin A C 8: 111,325,717 (GRCm39) I4709L probably benign Het
Ifna9 A T 4: 88,510,600 (GRCm39) L8Q probably null Het
Iftap A T 2: 101,413,898 (GRCm39) M133K possibly damaging Het
Kpna4 T C 3: 69,034,066 (GRCm39) E125G probably null Het
Lrriq1 A G 10: 103,006,325 (GRCm39) S1267P probably damaging Het
Mab21l1 G T 3: 55,690,518 (GRCm39) C35F possibly damaging Het
Map3k2 A G 18: 32,336,104 (GRCm39) D97G probably damaging Het
Matcap2 G A 9: 22,335,422 (GRCm39) W13* probably null Het
Mdn1 T A 4: 32,741,073 (GRCm39) I3799N probably damaging Het
Mki67 G A 7: 135,299,158 (GRCm39) R1959C probably damaging Het
Mroh1 A T 15: 76,335,557 (GRCm39) H1400L possibly damaging Het
Mroh4 T A 15: 74,497,321 (GRCm39) K167* probably null Het
Mroh8 A G 2: 157,094,984 (GRCm39) I334T probably benign Het
Or51a25 T A 7: 102,373,574 (GRCm39) Y41F probably damaging Het
Phf11d T A 14: 59,602,898 (GRCm39) probably benign Het
Phf21a C T 2: 92,182,097 (GRCm39) T342I possibly damaging Het
Pira12 G T 7: 3,897,599 (GRCm39) H499N probably damaging Het
Plekhh3 T C 11: 101,055,591 (GRCm39) E483G possibly damaging Het
Ppp1r3b G A 8: 35,851,355 (GRCm39) A65T probably damaging Het
Pramel30 C T 4: 144,057,777 (GRCm39) T128I probably benign Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Pum1 T C 4: 130,496,158 (GRCm39) V961A probably damaging Het
Scgb2b27 T C 7: 33,711,561 (GRCm39) E96G probably benign Het
Sel1l2 T A 2: 140,086,025 (GRCm39) E522V probably damaging Het
Socs4 T G 14: 47,527,618 (GRCm39) C184W probably damaging Het
Spdye4c A T 2: 128,438,553 (GRCm39) I304F probably benign Het
Sptbn2 A G 19: 4,789,306 (GRCm39) I1249V possibly damaging Het
Sys1 T C 2: 164,306,507 (GRCm39) S154P probably benign Het
Taf6l T C 19: 8,755,530 (GRCm39) Q275R possibly damaging Het
Tas2r107 A G 6: 131,636,875 (GRCm39) V58A possibly damaging Het
Thada T A 17: 84,744,062 (GRCm39) I749F probably damaging Het
Tubb1 T A 2: 174,299,567 (GRCm39) H416Q probably benign Het
Vmn2r109 G A 17: 20,760,981 (GRCm39) T792I probably damaging Het
Zfp988 A G 4: 147,416,259 (GRCm39) Q231R probably benign Het
Zmynd8 T C 2: 165,684,707 (GRCm39) I182V possibly damaging Het
Zzz3 T C 3: 152,133,788 (GRCm39) V282A probably benign 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
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
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'- GCCATCCTTAATGACTTCACACG -3'
(R):5'- AGGATGCACTGTAGTACATAGAC -3'

Sequencing Primer
(F):5'- AATGACTTCACACGTCCTATTGTTG -3'
(R):5'- GCACTGTAGTACATAGACTTGTTC -3'
Posted On 2017-06-26