Incidental Mutation 'R5771:Atp8b4'
ID 445342
Institutional Source Beutler Lab
Gene Symbol Atp8b4
Ensembl Gene ENSMUSG00000060131
Gene Name ATPase, class I, type 8B, member 4
Synonyms Im
MMRRC Submission 043371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5771 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126162893-126342589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126220664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 578 (D578G)
Ref Sequence ENSEMBL: ENSMUSP00000047302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000147517]
AlphaFold A2ANX3
Predicted Effect probably benign
Transcript: ENSMUST00000040128
AA Change: D578G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: D578G

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 15 81 3.4e-30 PFAM
Pfam:E1-E2_ATPase 81 352 5.1e-8 PFAM
Pfam:HAD 390 826 1.1e-18 PFAM
Pfam:Cation_ATPase 474 573 5.5e-10 PFAM
Pfam:PhoLip_ATPase_C 843 1097 1.6e-83 PFAM
low complexity region 1113 1130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040149
AA Change: D578G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: D578G

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 15 81 3.4e-30 PFAM
Pfam:E1-E2_ATPase 81 352 5.1e-8 PFAM
Pfam:HAD 390 826 1.1e-18 PFAM
Pfam:Cation_ATPase 474 573 5.5e-10 PFAM
Pfam:PhoLip_ATPase_C 843 1097 1.6e-83 PFAM
low complexity region 1113 1130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134977
Predicted Effect probably benign
Transcript: ENSMUST00000147517
SMART Domains Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Blast:CUB 32 67 2e-7 BLAST
Pfam:E1-E2_ATPase 84 355 1.9e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 95% (87/92)
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 cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,411 (GRCm39) N1091K probably damaging Het
Adam3 C T 8: 25,197,427 (GRCm39) V335I probably benign Het
AI504432 G A 3: 106,956,299 (GRCm39) noncoding transcript Het
Apcdd1 A G 18: 63,070,027 (GRCm39) Y98C probably damaging Het
Aqp9 C T 9: 71,030,146 (GRCm39) A214T probably damaging Het
Bcdin3d T C 15: 99,368,717 (GRCm39) M161V probably benign Het
Bicral C T 17: 47,136,284 (GRCm39) V309I possibly damaging Het
Ccdc88b C T 19: 6,831,203 (GRCm39) A580T probably benign Het
Cdhr2 T A 13: 54,874,508 (GRCm39) V860E probably damaging Het
Clhc1 A T 11: 29,513,854 (GRCm39) N302Y possibly damaging Het
Cnnm2 T A 19: 46,845,434 (GRCm39) probably null Het
Crebbp T C 16: 3,937,636 (GRCm39) N709S probably benign Het
Ctnnal1 T C 4: 56,826,328 (GRCm39) S512G probably benign Het
Dgcr8 C T 16: 18,090,632 (GRCm39) V581I probably benign Het
Dnaaf10 A G 11: 17,174,638 (GRCm39) T169A probably benign Het
Dnah7c G A 1: 46,678,825 (GRCm39) V1790I probably benign Het
Efl1 A G 7: 82,341,732 (GRCm39) K452E probably benign Het
Epb42 A C 2: 120,852,301 (GRCm39) V564G probably damaging Het
Etv4 G A 11: 101,662,282 (GRCm39) P335S probably damaging Het
Fbxw9 T A 8: 85,791,201 (GRCm39) probably null Het
Fcrl2 A T 3: 87,170,775 (GRCm39) L3Q probably damaging Het
Frmd8 C A 19: 5,919,478 (GRCm39) A190S probably benign Het
Gcm2 C T 13: 41,256,991 (GRCm39) D253N probably benign Het
Gfm1 T C 3: 67,342,895 (GRCm39) V143A probably benign Het
Gigyf2 T C 1: 87,374,050 (GRCm39) M1226T possibly damaging Het
Gm10110 C T 14: 90,134,675 (GRCm39) noncoding transcript Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm20939 T G 17: 95,181,767 (GRCm39) C55W possibly damaging Het
Gm5407 T A 16: 49,117,229 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,387,351 (GRCm39) E1491G probably damaging Het
Hdac11 T A 6: 91,146,364 (GRCm39) probably null Het
Hs3st3b1 C T 11: 63,780,098 (GRCm39) S343N probably benign Het
Igkv12-44 G A 6: 69,792,075 (GRCm39) P4S probably benign Het
Igkv1-35 C T 6: 69,988,231 (GRCm39) V22I probably benign Het
Kcns2 A T 15: 34,839,068 (GRCm39) T144S probably benign Het
Khdc1c T C 1: 21,439,266 (GRCm39) V84A possibly damaging Het
Kif4-ps T A 12: 101,115,544 (GRCm39) noncoding transcript Het
Lamc2 T G 1: 153,017,340 (GRCm39) Y549S probably benign Het
Lect2 T A 13: 56,696,154 (GRCm39) I8F probably benign Het
Loxl3 T A 6: 83,012,780 (GRCm39) probably null Het
Lrwd1 A T 5: 136,152,516 (GRCm39) I545N possibly damaging Het
Ltbp3 T C 19: 5,797,572 (GRCm39) C437R probably damaging Het
Lypd3 T C 7: 24,339,787 (GRCm39) S285P probably benign Het
Mast2 T A 4: 116,190,622 (GRCm39) H83L possibly damaging Het
Mfsd4b4 A G 10: 39,768,635 (GRCm39) F153L probably benign Het
Ms4a4b T A 19: 11,438,606 (GRCm39) probably null Het
Nbr1 T A 11: 101,450,364 (GRCm39) L41Q probably damaging Het
Nlrp4a G A 7: 26,152,814 (GRCm39) C628Y probably damaging Het
Nup160 C T 2: 90,553,740 (GRCm39) R1157C probably damaging Het
Obscn T A 11: 58,891,533 (GRCm39) I7000F unknown Het
Or4k41 T A 2: 111,280,406 (GRCm39) probably null Het
Or4p21 A T 2: 88,276,652 (GRCm39) V210D possibly damaging Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Or5b122 T G 19: 13,562,872 (GRCm39) V25G probably damaging Het
Or8g2 A T 9: 39,821,546 (GRCm39) Y149F probably damaging Het
Pdilt T C 7: 119,094,217 (GRCm39) K345E probably damaging Het
Ppp1r12b A T 1: 134,701,162 (GRCm39) probably null Het
Ppp2r1b A T 9: 50,778,132 (GRCm39) Q219L probably damaging Het
Prim2 A G 1: 33,493,232 (GRCm39) S485P unknown Het
Prkdc A G 16: 15,482,097 (GRCm39) D380G probably damaging Het
Psmg1 A G 16: 95,783,369 (GRCm39) L243S probably damaging Het
Rapgef5 T A 12: 117,685,061 (GRCm39) V270D probably benign Het
Rnft1 C T 11: 86,384,032 (GRCm39) R311* probably null Het
Scaper T A 9: 55,724,075 (GRCm39) I628L probably damaging Het
Serpina3j C A 12: 104,281,185 (GRCm39) H119Q possibly damaging Het
Slamf6 G A 1: 171,745,341 (GRCm39) V23I probably damaging Het
Slc12a5 T A 2: 164,815,688 (GRCm39) M45K possibly damaging Het
Slc25a11 A C 11: 70,537,016 (GRCm39) V13G probably damaging Het
Slc7a14 T A 3: 31,292,856 (GRCm39) Y143F probably damaging Het
Spryd3 A G 15: 102,025,342 (GRCm39) probably benign Het
Stard13 C A 5: 151,113,476 (GRCm39) L28F probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Taf2 A G 15: 54,923,335 (GRCm39) V314A probably benign Het
Tas2r106 T C 6: 131,655,086 (GRCm39) N255S possibly damaging Het
Tbxa2r T A 10: 81,168,775 (GRCm39) W155R probably damaging Het
Tcf3 A G 10: 80,257,450 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,404,959 (GRCm39) D148G probably damaging Het
Vmn2r77 A G 7: 86,461,235 (GRCm39) N854D probably benign Het
Vstm4 A T 14: 32,626,526 (GRCm39) H64L probably benign Het
Wnk2 T C 13: 49,256,276 (GRCm39) T282A probably damaging Het
Zscan4c A T 7: 10,743,574 (GRCm39) D391V probably benign Het
Other mutations in Atp8b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Atp8b4 APN 2 126,200,817 (GRCm39) missense probably damaging 1.00
IGL00841:Atp8b4 APN 2 126,225,689 (GRCm39) missense probably damaging 0.97
IGL00917:Atp8b4 APN 2 126,216,453 (GRCm39) missense probably benign 0.00
IGL01013:Atp8b4 APN 2 126,165,007 (GRCm39) missense probably benign 0.25
IGL01374:Atp8b4 APN 2 126,225,577 (GRCm39) splice site probably benign
IGL01898:Atp8b4 APN 2 126,231,281 (GRCm39) missense probably benign 0.00
IGL01927:Atp8b4 APN 2 126,164,896 (GRCm39) missense probably damaging 0.99
IGL01971:Atp8b4 APN 2 126,304,536 (GRCm39) missense probably benign 0.05
R0320:Atp8b4 UTSW 2 126,301,614 (GRCm39) missense possibly damaging 0.55
R0441:Atp8b4 UTSW 2 126,220,626 (GRCm39) splice site probably benign
R0526:Atp8b4 UTSW 2 126,269,283 (GRCm39) missense probably damaging 1.00
R0765:Atp8b4 UTSW 2 126,214,070 (GRCm39) splice site probably null
R0964:Atp8b4 UTSW 2 126,179,413 (GRCm39) missense probably damaging 1.00
R1386:Atp8b4 UTSW 2 126,220,664 (GRCm39) missense probably benign 0.00
R1401:Atp8b4 UTSW 2 126,165,013 (GRCm39) critical splice acceptor site probably null
R1568:Atp8b4 UTSW 2 126,167,314 (GRCm39) missense probably benign
R1792:Atp8b4 UTSW 2 126,167,214 (GRCm39) missense probably benign
R1830:Atp8b4 UTSW 2 126,245,301 (GRCm39) missense probably benign 0.03
R1839:Atp8b4 UTSW 2 126,203,702 (GRCm39) missense possibly damaging 0.92
R1984:Atp8b4 UTSW 2 126,164,928 (GRCm39) missense probably damaging 1.00
R2143:Atp8b4 UTSW 2 126,216,430 (GRCm39) missense probably damaging 1.00
R2186:Atp8b4 UTSW 2 126,200,780 (GRCm39) missense probably damaging 1.00
R2212:Atp8b4 UTSW 2 126,217,677 (GRCm39) missense probably damaging 1.00
R2473:Atp8b4 UTSW 2 126,200,814 (GRCm39) missense possibly damaging 0.67
R3412:Atp8b4 UTSW 2 126,217,677 (GRCm39) missense probably damaging 1.00
R3414:Atp8b4 UTSW 2 126,217,677 (GRCm39) missense probably damaging 1.00
R4519:Atp8b4 UTSW 2 126,256,379 (GRCm39) splice site probably null
R4543:Atp8b4 UTSW 2 126,199,986 (GRCm39) missense probably damaging 0.97
R4701:Atp8b4 UTSW 2 126,256,213 (GRCm39) missense probably damaging 1.00
R4818:Atp8b4 UTSW 2 126,164,736 (GRCm39) missense probably benign 0.01
R4895:Atp8b4 UTSW 2 126,256,289 (GRCm39) missense probably benign 0.23
R5213:Atp8b4 UTSW 2 126,231,329 (GRCm39) splice site probably null
R5239:Atp8b4 UTSW 2 126,234,781 (GRCm39) splice site probably null
R5241:Atp8b4 UTSW 2 126,225,646 (GRCm39) missense probably benign
R5654:Atp8b4 UTSW 2 126,217,725 (GRCm39) missense probably damaging 1.00
R5725:Atp8b4 UTSW 2 126,275,856 (GRCm39) missense probably benign
R5949:Atp8b4 UTSW 2 126,247,242 (GRCm39) missense probably benign 0.02
R5993:Atp8b4 UTSW 2 126,245,154 (GRCm39) missense probably benign
R5998:Atp8b4 UTSW 2 126,275,787 (GRCm39) splice site probably null
R6550:Atp8b4 UTSW 2 126,266,113 (GRCm39) missense probably damaging 1.00
R6575:Atp8b4 UTSW 2 126,256,284 (GRCm39) missense probably damaging 1.00
R6892:Atp8b4 UTSW 2 126,184,922 (GRCm39) missense possibly damaging 0.94
R6915:Atp8b4 UTSW 2 126,200,834 (GRCm39) nonsense probably null
R7045:Atp8b4 UTSW 2 126,214,115 (GRCm39) missense probably benign 0.00
R7206:Atp8b4 UTSW 2 126,300,212 (GRCm39) missense probably damaging 0.99
R7349:Atp8b4 UTSW 2 126,167,265 (GRCm39) missense probably benign 0.00
R7395:Atp8b4 UTSW 2 126,217,614 (GRCm39) missense possibly damaging 0.76
R7429:Atp8b4 UTSW 2 126,245,291 (GRCm39) missense possibly damaging 0.47
R7430:Atp8b4 UTSW 2 126,245,291 (GRCm39) missense possibly damaging 0.47
R7548:Atp8b4 UTSW 2 126,231,262 (GRCm39) missense probably benign
R7724:Atp8b4 UTSW 2 126,164,813 (GRCm39) missense possibly damaging 0.87
R8770:Atp8b4 UTSW 2 126,184,915 (GRCm39) missense probably damaging 1.00
R8793:Atp8b4 UTSW 2 126,231,254 (GRCm39) missense probably benign
R8816:Atp8b4 UTSW 2 126,214,084 (GRCm39) critical splice donor site probably benign
R8956:Atp8b4 UTSW 2 126,167,327 (GRCm39) critical splice acceptor site probably null
R9017:Atp8b4 UTSW 2 126,275,841 (GRCm39) missense probably benign 0.13
R9026:Atp8b4 UTSW 2 126,184,883 (GRCm39) missense probably benign 0.34
R9128:Atp8b4 UTSW 2 126,234,750 (GRCm39) missense probably benign
R9190:Atp8b4 UTSW 2 126,225,607 (GRCm39) missense probably damaging 0.96
R9367:Atp8b4 UTSW 2 126,216,430 (GRCm39) missense probably damaging 0.99
R9385:Atp8b4 UTSW 2 126,322,551 (GRCm39) nonsense probably null
Z1176:Atp8b4 UTSW 2 126,256,349 (GRCm39) missense possibly damaging 0.62
Z1177:Atp8b4 UTSW 2 126,275,863 (GRCm39) missense probably damaging 0.99
Z1177:Atp8b4 UTSW 2 126,164,744 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AACTCTGATTGCTGGCCTG -3'
(R):5'- AGACCCTGAATGTTTTGGCC -3'

Sequencing Primer
(F):5'- GCCTGTTCCCAGACCATCAG -3'
(R):5'- TGGCCTTGGCAAACCTTATG -3'
Posted On 2016-11-21