Incidental Mutation 'R5289:Atp8b1'
ID 424621
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 042872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5289 (G1)
Quality Score 216
Status Not validated
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64679158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 774 (N774K)
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025482
AA Change: N774K

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: N774K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Diras1 G A 10: 80,858,078 (GRCm39) Q58* probably null Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Grb10 T C 11: 11,894,924 (GRCm39) silent Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Hgd A G 16: 37,448,913 (GRCm39) E379G possibly damaging Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Prok1 G C 3: 107,146,935 (GRCm39) L11V probably benign Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc38a4 A T 15: 96,908,229 (GRCm39) F171I possibly damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown 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
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'- GACAGGCAATTAATATGCAAAGCCATC -3'
(R):5'- GTGTATAAGATCCAAATGCTAGGAC -3'

Sequencing Primer
(F):5'- AACCATCCGCTGTGAGATCTG -3'
(R):5'- TACCATTCCTGGCCCTAG -3'
Posted On 2016-08-04