Incidental Mutation 'R5998:Atp8b4'
ID 482111
Institutional Source Beutler Lab
Gene Symbol Atp8b4
Ensembl Gene ENSMUSG00000060131
Gene Name ATPase, class I, type 8B, member 4
Synonyms Im
MMRRC Submission 044177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 126162893-126342589 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 126275787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040128] [ENSMUST00000040149] [ENSMUST00000129187] [ENSMUST00000129187] [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: 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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,517,708 (GRCm39) V4437I probably damaging Het
Acot12 T C 13: 91,905,653 (GRCm39) I71T possibly damaging Het
Adcy10 A G 1: 165,369,218 (GRCm39) I630V probably benign Het
Adcy3 T A 12: 4,248,348 (GRCm39) V470E probably damaging Het
Adcy6 C A 15: 98,492,235 (GRCm39) E1008* probably null Het
Adgrb3 A T 1: 25,470,582 (GRCm39) probably null Het
Ahrr T A 13: 74,361,955 (GRCm39) S515C probably damaging Het
Ankrd52 T C 10: 128,218,992 (GRCm39) I416T probably damaging Het
Arhgap45 T C 10: 79,866,784 (GRCm39) S1096P probably damaging Het
Bcl6b A C 11: 70,119,009 (GRCm39) I200M probably damaging Het
Btbd19 T A 4: 116,978,196 (GRCm39) E234V probably benign Het
Csmd1 G A 8: 15,960,443 (GRCm39) T3324I probably damaging Het
Cyp2a5 G A 7: 26,536,578 (GRCm39) V186I probably benign Het
Eif4a3l1 T C 6: 136,305,622 (GRCm39) F28L probably benign Het
Glb1l2 G A 9: 26,677,299 (GRCm39) T533I possibly damaging Het
Helz G T 11: 107,576,360 (GRCm39) E1851* probably null Het
Igkv15-103 T A 6: 68,414,489 (GRCm39) F13Y unknown Het
Kcnq2 T C 2: 180,728,801 (GRCm39) H548R probably damaging Het
Mcm3ap T C 10: 76,316,976 (GRCm39) probably null Het
Micall2 T C 5: 139,692,666 (GRCm39) probably null Het
Mill2 A G 7: 18,573,989 (GRCm39) R25G probably benign Het
Mtcl1 G A 17: 66,675,275 (GRCm39) H1041Y probably damaging Het
Or5k16 T C 16: 58,736,993 (GRCm39) T4A probably benign Het
Or8d2b G A 9: 38,789,165 (GRCm39) R231H probably damaging Het
Pigt A G 2: 164,349,374 (GRCm39) E559G possibly damaging Het
Pkdrej A G 15: 85,699,654 (GRCm39) V2094A probably benign Het
Prkdc T A 16: 15,601,021 (GRCm39) L2894Q probably damaging Het
Saxo4 A T 19: 10,458,716 (GRCm39) W105R possibly damaging Het
Speer4a2 T C 5: 26,289,704 (GRCm39) D241G probably damaging Het
Tmem63b A G 17: 45,980,926 (GRCm39) V256A possibly damaging Het
Zfp516 T C 18: 82,974,639 (GRCm39) L279P probably damaging Het
Zfp780b T A 7: 27,664,047 (GRCm39) K169N 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
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
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'- AGTCACTGTGTCACCAAAAGTCAC -3'
(R):5'- ACACCCACACTCTTTGTTGG -3'

Sequencing Primer
(F):5'- AATGGTGATCCCTCCTTG -3'
(R):5'- CACACTCTTTGTTGGTTGTGAATTC -3'
Posted On 2017-06-27