Incidental Mutation 'R0379:Atp8b5'
ID 30852
Institutional Source Beutler Lab
Gene Symbol Atp8b5
Ensembl Gene ENSMUSG00000028457
Gene Name ATPase, class I, type 8B, member 5
Synonyms 4930417M19Rik, FetA
MMRRC Submission 038585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0379 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43267159-43373833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43361898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 648 (R648L)
Ref Sequence ENSEMBL: ENSMUSP00000103575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107937] [ENSMUST00000107942]
AlphaFold A3FIN4
Predicted Effect probably benign
Transcript: ENSMUST00000107937
Predicted Effect probably damaging
Transcript: ENSMUST00000107942
AA Change: R648L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: R648L

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 104 1.8e-26 PFAM
Pfam:E1-E2_ATPase 103 375 4.9e-9 PFAM
Pfam:HAD 413 847 2e-18 PFAM
Pfam:Cation_ATPase 495 594 1e-9 PFAM
Pfam:PhoLip_ATPase_C 864 1118 2.6e-77 PFAM
low complexity region 1171 1180 N/A INTRINSIC
Meta Mutation Damage Score 0.3806 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A G 11: 11,539,365 (GRCm39) probably benign Het
Apba1 A C 19: 23,912,194 (GRCm39) N558T probably damaging Het
Arfgef2 T A 2: 166,702,320 (GRCm39) probably null Het
Arsb T C 13: 94,077,135 (GRCm39) S501P probably benign Het
Atp10b A G 11: 43,145,141 (GRCm39) T1295A probably benign Het
Bcl2a1b T C 9: 89,081,789 (GRCm39) I126T possibly damaging Het
Brd9 T C 13: 74,090,802 (GRCm39) probably benign Het
Cd93 T C 2: 148,283,430 (GRCm39) probably benign Het
Chd5 A G 4: 152,467,778 (GRCm39) K1692R probably benign Het
Clcn4 T C 7: 7,299,791 (GRCm39) T13A probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Clec4g A G 8: 3,768,440 (GRCm39) V97A probably benign Het
Col24a1 G A 3: 145,229,897 (GRCm39) R1483K possibly damaging Het
Crem A T 18: 3,299,226 (GRCm39) V82D probably damaging Het
Ctnna2 T A 6: 77,618,423 (GRCm39) T180S probably benign Het
Cybrd1 T C 2: 70,960,099 (GRCm39) I99T probably benign Het
Cyp4a32 G A 4: 115,478,671 (GRCm39) V468M probably damaging Het
Dlk1 A G 12: 109,420,985 (GRCm39) probably benign Het
Dnaaf9 C T 2: 130,627,466 (GRCm39) probably benign Het
Dnah7b A T 1: 46,179,336 (GRCm39) Y1003F probably benign Het
Egfem1 A C 3: 29,722,399 (GRCm39) E376A possibly damaging Het
Etl4 T A 2: 20,812,165 (GRCm39) I1416K probably damaging Het
Fbxl4 A G 4: 22,386,106 (GRCm39) T238A probably benign Het
Fer1l6 A G 15: 58,420,187 (GRCm39) I33M probably benign Het
Fndc3a A G 14: 72,794,049 (GRCm39) S830P probably damaging Het
Fras1 C T 5: 96,903,368 (GRCm39) R3082* probably null Het
Galnt13 T C 2: 54,950,504 (GRCm39) V395A possibly damaging Het
Gpd2 C T 2: 57,235,275 (GRCm39) T335I probably damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hydin A G 8: 111,235,759 (GRCm39) probably benign Het
Ints5 G T 19: 8,874,497 (GRCm39) V819L possibly damaging Het
Klhdc10 C G 6: 30,450,669 (GRCm39) Q292E possibly damaging Het
Lmbrd2 G A 15: 9,149,566 (GRCm39) A67T probably benign Het
Lrp1 T G 10: 127,430,838 (GRCm39) T404P probably damaging Het
Marchf7 T C 2: 60,064,470 (GRCm39) S249P probably benign Het
Mcm10 T A 2: 5,013,434 (GRCm39) K66M probably benign Het
Mtmr7 C A 8: 41,004,642 (GRCm39) D645Y probably damaging Het
Muc6 T A 7: 141,216,868 (GRCm39) I2602F possibly damaging Het
Myh13 G A 11: 67,260,121 (GRCm39) probably benign Het
Myo18a G A 11: 77,741,632 (GRCm39) V1776I possibly damaging Het
Ncapg2 T C 12: 116,406,695 (GRCm39) L957S probably damaging Het
Ncoa3 T C 2: 165,896,422 (GRCm39) S442P probably damaging Het
Or5t5 G A 2: 86,616,079 (GRCm39) E2K probably benign Het
Or6x1 G A 9: 40,098,729 (GRCm39) G106D probably damaging Het
Or7g32 T A 9: 19,388,776 (GRCm39) T257S possibly damaging Het
Pdcd6 G T 13: 74,457,831 (GRCm39) N113K possibly damaging Het
Pfkfb4 C T 9: 108,856,810 (GRCm39) probably benign Het
Pfkm A G 15: 98,024,195 (GRCm39) H401R probably benign Het
Phldb2 C A 16: 45,601,814 (GRCm39) D754Y probably damaging Het
Plekhb2 T A 1: 34,902,195 (GRCm39) M49K probably damaging Het
Polrmt A G 10: 79,573,445 (GRCm39) S1057P possibly damaging Het
Prps1l1 A G 12: 35,035,077 (GRCm39) N64S probably benign Het
Prss3l T G 6: 41,422,190 (GRCm39) probably benign Het
Psg16 T C 7: 16,864,583 (GRCm39) S393P probably benign Het
Rundc1 C T 11: 101,315,973 (GRCm39) T15I probably benign Het
Scaf11 A G 15: 96,329,697 (GRCm39) L143S probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpinf1 T G 11: 75,304,771 (GRCm39) I197L probably benign Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Slc28a1 G A 7: 80,787,925 (GRCm39) V271I probably benign Het
Sntg1 T C 1: 8,853,048 (GRCm39) D34G probably damaging Het
Sptbn4 A T 7: 27,059,161 (GRCm39) probably benign Het
Suclg1 T C 6: 73,233,211 (GRCm39) I51T possibly damaging Het
Syne1 C T 10: 5,491,989 (GRCm39) R9Q probably damaging Het
Trim47 T A 11: 115,997,344 (GRCm39) H470L probably damaging Het
Ttc41 T A 10: 86,548,841 (GRCm39) Y12N possibly damaging Het
Tubgcp2 T C 7: 139,612,105 (GRCm39) E69G probably damaging Het
Tubgcp3 G A 8: 12,691,116 (GRCm39) T474M probably damaging Het
Ubr5 A T 15: 38,019,201 (GRCm39) N777K probably benign Het
Ush2a T C 1: 188,184,016 (GRCm39) L1440P probably damaging Het
Usp28 A C 9: 48,935,367 (GRCm39) D458A possibly damaging Het
Vcan A T 13: 89,851,665 (GRCm39) D1098E probably damaging Het
Vmn1r73 C T 7: 11,490,773 (GRCm39) T197I probably benign Het
Vmn2r15 T C 5: 109,434,344 (GRCm39) S787G probably damaging Het
Vmn2r90 T A 17: 17,948,401 (GRCm39) I549N probably damaging Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Zfp974 T A 7: 27,610,357 (GRCm39) N456I probably damaging Het
Other mutations in Atp8b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Atp8b5 APN 4 43,355,567 (GRCm39) missense probably damaging 1.00
IGL00970:Atp8b5 APN 4 43,311,938 (GRCm39) missense probably benign 0.01
IGL01335:Atp8b5 APN 4 43,302,628 (GRCm39) missense possibly damaging 0.90
IGL01462:Atp8b5 APN 4 43,368,010 (GRCm39) missense possibly damaging 0.90
IGL01657:Atp8b5 APN 4 43,291,693 (GRCm39) missense probably benign 0.04
IGL01935:Atp8b5 APN 4 43,366,638 (GRCm39) missense probably benign 0.03
IGL01977:Atp8b5 APN 4 43,320,590 (GRCm39) critical splice acceptor site probably null
IGL02102:Atp8b5 APN 4 43,364,167 (GRCm39) missense probably benign 0.10
IGL02369:Atp8b5 APN 4 43,334,205 (GRCm39) missense probably benign
IGL02456:Atp8b5 APN 4 43,365,578 (GRCm39) missense probably benign 0.16
IGL02696:Atp8b5 APN 4 43,369,634 (GRCm39) missense possibly damaging 0.61
IGL02826:Atp8b5 APN 4 43,366,770 (GRCm39) missense probably damaging 1.00
IGL02947:Atp8b5 APN 4 43,305,774 (GRCm39) missense possibly damaging 0.49
R0128:Atp8b5 UTSW 4 43,369,715 (GRCm39) critical splice donor site probably null
R0130:Atp8b5 UTSW 4 43,369,715 (GRCm39) critical splice donor site probably null
R0243:Atp8b5 UTSW 4 43,366,057 (GRCm39) missense probably benign
R0256:Atp8b5 UTSW 4 43,302,576 (GRCm39) intron probably benign
R0671:Atp8b5 UTSW 4 43,291,672 (GRCm39) missense possibly damaging 0.83
R1109:Atp8b5 UTSW 4 43,305,719 (GRCm39) intron probably benign
R1442:Atp8b5 UTSW 4 43,334,313 (GRCm39) missense probably damaging 0.99
R1454:Atp8b5 UTSW 4 43,302,590 (GRCm39) missense probably benign
R1469:Atp8b5 UTSW 4 43,291,733 (GRCm39) critical splice donor site probably null
R1469:Atp8b5 UTSW 4 43,291,733 (GRCm39) critical splice donor site probably null
R1503:Atp8b5 UTSW 4 43,344,430 (GRCm39) missense probably damaging 1.00
R1580:Atp8b5 UTSW 4 43,355,673 (GRCm39) missense possibly damaging 0.49
R1677:Atp8b5 UTSW 4 43,372,903 (GRCm39) missense possibly damaging 0.61
R1861:Atp8b5 UTSW 4 43,372,906 (GRCm39) missense probably damaging 1.00
R1899:Atp8b5 UTSW 4 43,361,804 (GRCm39) missense possibly damaging 0.47
R1903:Atp8b5 UTSW 4 43,357,063 (GRCm39) missense probably damaging 0.98
R1961:Atp8b5 UTSW 4 43,369,688 (GRCm39) missense probably damaging 0.98
R2131:Atp8b5 UTSW 4 43,370,726 (GRCm39) missense probably benign 0.33
R2971:Atp8b5 UTSW 4 43,361,953 (GRCm39) splice site probably benign
R3023:Atp8b5 UTSW 4 43,311,957 (GRCm39) missense possibly damaging 0.82
R3433:Atp8b5 UTSW 4 43,372,697 (GRCm39) missense probably benign
R3690:Atp8b5 UTSW 4 43,368,055 (GRCm39) missense probably damaging 1.00
R4157:Atp8b5 UTSW 4 43,365,591 (GRCm39) missense probably damaging 0.97
R4484:Atp8b5 UTSW 4 43,357,016 (GRCm39) missense probably damaging 1.00
R4510:Atp8b5 UTSW 4 43,320,629 (GRCm39) missense probably damaging 1.00
R4511:Atp8b5 UTSW 4 43,320,629 (GRCm39) missense probably damaging 1.00
R4679:Atp8b5 UTSW 4 43,365,955 (GRCm39) missense probably benign 0.16
R4753:Atp8b5 UTSW 4 43,372,710 (GRCm39) missense probably damaging 1.00
R4761:Atp8b5 UTSW 4 43,308,504 (GRCm39) makesense probably null
R4784:Atp8b5 UTSW 4 43,356,980 (GRCm39) missense probably damaging 0.97
R4785:Atp8b5 UTSW 4 43,356,980 (GRCm39) missense probably damaging 0.97
R4855:Atp8b5 UTSW 4 43,344,449 (GRCm39) missense probably benign
R5422:Atp8b5 UTSW 4 43,366,644 (GRCm39) missense probably benign 0.10
R5915:Atp8b5 UTSW 4 43,370,577 (GRCm39) missense probably damaging 1.00
R6228:Atp8b5 UTSW 4 43,304,674 (GRCm39) missense probably damaging 1.00
R6496:Atp8b5 UTSW 4 43,371,003 (GRCm39) missense probably benign 0.03
R6708:Atp8b5 UTSW 4 43,334,249 (GRCm39) missense probably benign
R6931:Atp8b5 UTSW 4 43,364,108 (GRCm39) critical splice acceptor site probably null
R7021:Atp8b5 UTSW 4 43,355,618 (GRCm39) missense probably damaging 0.99
R7085:Atp8b5 UTSW 4 43,361,835 (GRCm39) missense probably damaging 1.00
R7207:Atp8b5 UTSW 4 43,357,018 (GRCm39) missense probably damaging 0.97
R7404:Atp8b5 UTSW 4 43,342,640 (GRCm39) missense probably benign 0.10
R7448:Atp8b5 UTSW 4 43,366,021 (GRCm39) missense probably benign
R7465:Atp8b5 UTSW 4 43,271,269 (GRCm39) missense probably benign 0.00
R7526:Atp8b5 UTSW 4 43,366,609 (GRCm39) missense probably damaging 0.99
R7616:Atp8b5 UTSW 4 43,370,823 (GRCm39) critical splice donor site probably null
R7698:Atp8b5 UTSW 4 43,366,735 (GRCm39) missense probably benign 0.27
R7883:Atp8b5 UTSW 4 43,342,471 (GRCm39) missense probably damaging 0.99
R8052:Atp8b5 UTSW 4 43,356,982 (GRCm39) nonsense probably null
R8218:Atp8b5 UTSW 4 43,372,728 (GRCm39) critical splice donor site probably null
R8248:Atp8b5 UTSW 4 43,366,072 (GRCm39) missense probably damaging 0.97
R8345:Atp8b5 UTSW 4 43,291,714 (GRCm39) missense probably benign 0.01
R8756:Atp8b5 UTSW 4 43,342,439 (GRCm39) missense probably damaging 0.98
R8888:Atp8b5 UTSW 4 43,304,687 (GRCm39) missense
R8942:Atp8b5 UTSW 4 43,353,658 (GRCm39) missense probably damaging 1.00
R9153:Atp8b5 UTSW 4 43,308,493 (GRCm39) utr 3 prime probably benign
R9154:Atp8b5 UTSW 4 43,372,630 (GRCm39) missense probably benign 0.19
R9211:Atp8b5 UTSW 4 43,367,960 (GRCm39) missense probably damaging 0.97
R9361:Atp8b5 UTSW 4 43,369,658 (GRCm39) missense possibly damaging 0.80
R9786:Atp8b5 UTSW 4 43,305,798 (GRCm39) missense probably damaging 0.97
X0025:Atp8b5 UTSW 4 43,366,774 (GRCm39) missense probably damaging 1.00
Z1176:Atp8b5 UTSW 4 43,361,903 (GRCm39) missense probably benign 0.40
Z1177:Atp8b5 UTSW 4 43,370,669 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TTGGTCTTTCCCTGAGTCGCATAAC -3'
(R):5'- GGCACAAAGGTTCCGAGCTTTCTG -3'

Sequencing Primer
(F):5'- tgcctctctcagtctccc -3'
(R):5'- CCGAGCTTTCTGTTGAGCC -3'
Posted On 2013-04-24