Incidental Mutation 'R4519:Atp8b4'
ID 334104
Institutional Source Beutler Lab
Gene Symbol Atp8b4
Ensembl Gene ENSMUSG00000060131
Gene Name ATPase, class I, type 8B, member 4
Synonyms Im
MMRRC Submission 041590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4519 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 126162893-126342589 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 126256379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040128] [ENSMUST00000040128] [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000040149] [ENSMUST00000129187] [ENSMUST00000129187] [ENSMUST00000129187] [ENSMUST00000129187] [ENSMUST00000147517] [ENSMUST00000147517]
AlphaFold A2ANX3
Predicted Effect probably null
Transcript: ENSMUST00000040128
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000040128
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000040128
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000040128
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000040149
SMART Domains Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000040149
SMART Domains Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131

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 null
Transcript: ENSMUST00000129187
SMART Domains Protein: ENSMUSP00000118651
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 1.6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129187
SMART Domains Protein: ENSMUSP00000118651
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 1.6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129187
SMART Domains Protein: ENSMUSP00000118651
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 1.6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129187
SMART Domains Protein: ENSMUSP00000118651
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 1.6e-17 PFAM
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
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,129,092 (GRCm39) noncoding transcript Het
Acadsb A T 7: 131,031,733 (GRCm39) T190S probably damaging Het
Adamts17 G T 7: 66,490,314 (GRCm39) G132V probably damaging Het
Atosa A G 9: 74,930,929 (GRCm39) I957M probably damaging Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Btbd18 T C 2: 84,497,924 (GRCm39) Y521H probably damaging Het
Casd1 A G 6: 4,621,102 (GRCm39) N220S probably benign Het
Ccdc112 T G 18: 46,420,613 (GRCm39) E379A possibly damaging Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cntrl A T 2: 35,063,123 (GRCm39) K1573M probably damaging Het
Col14a1 A T 15: 55,251,975 (GRCm39) I544F unknown Het
Cyp20a1 A T 1: 60,426,306 (GRCm39) Y416F probably damaging Het
Dagla T C 19: 10,247,096 (GRCm39) K132E probably damaging Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Ddx41 A T 13: 55,680,957 (GRCm39) V329E probably damaging Het
Dhx32 A T 7: 133,335,838 (GRCm39) Y272N probably damaging Het
Fam114a1 C A 5: 65,163,225 (GRCm39) P174Q probably benign Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Ghr T A 15: 3,362,970 (GRCm39) L167F probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gm9767 T C 10: 25,954,756 (GRCm39) probably benign Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
Gsdme A T 6: 50,206,333 (GRCm39) I170N probably damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Kmt2c T A 5: 25,568,475 (GRCm39) K867M probably damaging Het
Krt35 A G 11: 99,985,453 (GRCm39) V196A possibly damaging Het
Ltbp1 A T 17: 75,671,492 (GRCm39) M1558L probably benign Het
Mcam T G 9: 44,052,640 (GRCm39) M623R possibly damaging Het
Mrps26 A T 2: 130,406,269 (GRCm39) Q134L probably benign Het
Mxra8 T C 4: 155,927,440 (GRCm39) probably null Het
Or13a21 A G 7: 139,999,123 (GRCm39) S188P probably damaging Het
Or52n20 G A 7: 104,320,046 (GRCm39) G46R probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Parg C A 14: 31,931,592 (GRCm39) T404K probably damaging Het
Parp8 C A 13: 117,032,209 (GRCm39) L321F possibly damaging Het
Piezo2 T C 18: 63,205,951 (GRCm39) E1486G probably damaging Het
Pign A T 1: 105,525,391 (GRCm39) probably null Het
Pik3r4 A G 9: 105,549,924 (GRCm39) H1005R probably damaging Het
Ppp6r1 A C 7: 4,644,045 (GRCm39) probably null Het
Ptdss2 A G 7: 140,734,491 (GRCm39) T309A probably benign Het
Ptprt T C 2: 161,406,609 (GRCm39) M987V probably damaging Het
Rgs17 C A 10: 5,868,192 (GRCm39) L9F probably benign Het
Rock2 A G 12: 17,027,738 (GRCm39) R168G probably damaging Het
Rsph4a T A 10: 33,787,623 (GRCm39) L593* probably null Het
Scaf11 C A 15: 96,322,719 (GRCm39) K108N probably damaging Het
Sec23b T A 2: 144,423,935 (GRCm39) M528K possibly damaging Het
Shank2 G A 7: 143,963,942 (GRCm39) D727N probably damaging Het
Sipa1l2 T C 8: 126,218,965 (GRCm39) D124G probably benign Het
Spatc1 A T 15: 76,176,685 (GRCm39) I479F probably damaging Het
Tmem126b A G 7: 90,118,316 (GRCm39) L188P probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Vmn2r62 A G 7: 42,413,957 (GRCm39) F829L probably damaging 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
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
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'- GCCCGAGTCTATACACTGTACC -3'
(R):5'- CTGGTCAGTATAGAGAATCTTGCTTC -3'

Sequencing Primer
(F):5'- GTCTATACACTGTACCTGCAAAAAG -3'
(R):5'- CCACAGTCTTGCATGTGT -3'
Posted On 2015-08-18