Incidental Mutation 'R4895:Atp8b4'
ID 377545
Institutional Source Beutler Lab
Gene Symbol Atp8b4
Ensembl Gene ENSMUSG00000060131
Gene Name ATPase, class I, type 8B, member 4
Synonyms Im
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126162893-126342589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126256289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 223 (H223Q)
Ref Sequence ENSEMBL: ENSMUSP00000114252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000129187] [ENSMUST00000147517]
AlphaFold A2ANX3
Predicted Effect probably benign
Transcript: ENSMUST00000040128
AA Change: H223Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: H223Q

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: H223Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: H223Q

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: ENSMUST00000129187
AA Change: H223Q

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
AA Change: H223Q

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Blast:CUB 32 67 2e-7 BLAST
Pfam:E1-E2_ATPase 84 355 1.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134977
Predicted Effect probably benign
Transcript: ENSMUST00000147517
AA Change: H223Q

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: H223Q

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 0.1302 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null 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
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
R5771:Atp8b4 UTSW 2 126,220,664 (GRCm39) missense probably benign 0.11
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'- ACTCAGAGTACTGCTGTCTCC -3'
(R):5'- TGCCTTGCATATCAACAGCAG -3'

Sequencing Primer
(F):5'- TCCTCTGGGAGTACCACAC -3'
(R):5'- CCTTGCATATCAACAGCAGGGTAG -3'
Posted On 2016-03-17