Incidental Mutation 'R7724:Atp8b4'
ID 595377
Institutional Source Beutler Lab
Gene Symbol Atp8b4
Ensembl Gene ENSMUSG00000060131
Gene Name ATPase, class I, type 8B, member 4
Synonyms Im
MMRRC Submission 045780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7724 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 126162893-126342589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126164813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1168 (N1168Y)
Ref Sequence ENSEMBL: ENSMUSP00000047302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040128] [ENSMUST00000040149]
AlphaFold A2ANX3
Predicted Effect possibly damaging
Transcript: ENSMUST00000040128
AA Change: N1168Y

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: N1168Y

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 possibly damaging
Transcript: ENSMUST00000040149
AA Change: N1168Y

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: N1168Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A C 15: 57,885,857 (GRCm39) S342A probably benign Het
Adarb2 C A 13: 8,620,292 (GRCm39) H259Q probably benign Het
Ak7 T A 12: 105,682,289 (GRCm39) I150N probably damaging Het
Arhgef12 A T 9: 42,938,567 (GRCm39) I75N probably damaging Het
Arhgef17 C T 7: 100,529,816 (GRCm39) G480S probably damaging Het
Atic T C 1: 71,604,060 (GRCm39) Y208H probably damaging Het
Ccdc202 A G 14: 96,119,686 (GRCm39) N148D possibly damaging Het
Cdh15 G T 8: 123,593,700 (GRCm39) D765Y probably damaging Het
Celf4 C T 18: 25,619,850 (GRCm39) probably null Het
Cep57l1 G A 10: 41,621,838 (GRCm39) T26M possibly damaging Het
Ces2g T A 8: 105,693,484 (GRCm39) D388E probably benign Het
Cir1 T C 2: 73,137,234 (GRCm39) N69S possibly damaging Het
Ctc1 C A 11: 68,917,170 (GRCm39) H355N probably benign Het
Ebf2 A T 14: 67,661,489 (GRCm39) K539M probably damaging Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fat2 C T 11: 55,175,622 (GRCm39) G1697E probably damaging Het
Fga A G 3: 82,936,432 (GRCm39) D76G probably damaging Het
Fn1 A T 1: 71,642,894 (GRCm39) S1786T probably benign Het
Frmpd1 A T 4: 45,229,888 (GRCm39) E18D probably damaging Het
Gbp8 A T 5: 105,179,160 (GRCm39) I113N probably damaging Het
Gm10549 A T 18: 33,603,912 (GRCm39) R132* probably null Het
Gmps T A 3: 63,893,074 (GRCm39) D126E possibly damaging Het
Gria4 A G 9: 4,472,074 (GRCm39) Y472H probably damaging Het
Helz2 T C 2: 180,873,789 (GRCm39) Y2235C probably damaging Het
Hrnr A G 3: 93,230,323 (GRCm39) N187S unknown Het
Ifit1bl1 T C 19: 34,571,405 (GRCm39) K351E probably benign Het
Klhl23 A G 2: 69,655,056 (GRCm39) T309A probably benign Het
Ldhal6b A G 17: 5,468,877 (GRCm39) V19A probably benign Het
Lrrc59 C T 11: 94,534,170 (GRCm39) R243C probably damaging Het
Magi3 A C 3: 103,923,243 (GRCm39) I1158R probably benign Het
Mical2 T A 7: 111,922,833 (GRCm39) Y613N probably damaging Het
Myoc T A 1: 162,467,396 (GRCm39) probably null Het
Npas3 C A 12: 54,115,124 (GRCm39) S682Y possibly damaging Het
Ogdh T C 11: 6,274,887 (GRCm39) V172A probably benign Het
Or2t46 T A 11: 58,472,208 (GRCm39) H179Q probably benign Het
Or52r1c T A 7: 102,735,470 (GRCm39) C243* probably null Het
Or56a42-ps1 A G 7: 104,777,459 (GRCm39) Y52H probably damaging Het
Or8k30 A G 2: 86,338,949 (GRCm39) T49A probably damaging Het
Or8s5 A T 15: 98,238,775 (GRCm39) S32T possibly damaging Het
P2rx7 A T 5: 122,811,436 (GRCm39) I331F probably benign Het
Pcdhb14 A T 18: 37,581,937 (GRCm39) T348S possibly damaging Het
Prdx6b A G 2: 80,123,746 (GRCm39) E185G probably benign Het
Rdh1 A G 10: 127,600,576 (GRCm39) K200E possibly damaging Het
Sema6c A T 3: 95,080,510 (GRCm39) R935W probably damaging Het
Serpinb5 A T 1: 106,802,872 (GRCm39) I136F probably damaging Het
Skint10 A T 4: 112,622,289 (GRCm39) Y31* probably null Het
St6galnac1 C T 11: 116,656,898 (GRCm39) probably null Het
Synj1 G A 16: 90,758,387 (GRCm39) T819M probably damaging Het
Tacr3 T A 3: 134,635,669 (GRCm39) V291E probably damaging Het
Tdo2 A G 3: 81,875,390 (GRCm39) probably null Het
Tex15 T A 8: 34,036,291 (GRCm39) D72E possibly damaging Het
Tph2 T C 10: 114,915,727 (GRCm39) T438A probably benign Het
Uaca A G 9: 60,777,187 (GRCm39) T525A probably benign Het
Ulk1 A T 5: 110,940,270 (GRCm39) C384S probably benign Het
Uvrag T C 7: 98,641,170 (GRCm39) D290G probably benign Het
Zfp541 T C 7: 15,805,919 (GRCm39) L18P 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
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
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
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'- AATGTGATCTGCCCTGCTCC -3'
(R):5'- TCTAATGCTTGGGTTCACGG -3'

Sequencing Primer
(F):5'- TCCTGGCCCCTGAGCTG -3'
(R):5'- CTTGGGTTCACGGTTGCAC -3'
Posted On 2019-11-12