Incidental Mutation 'R4753:Atp8b5'
ID 357721
Institutional Source Beutler Lab
Gene Symbol Atp8b5
Ensembl Gene ENSMUSG00000028457
Gene Name ATPase, class I, type 8B, member 5
Synonyms 4930417M19Rik, FetA
MMRRC Submission 041971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4753 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43267159-43373833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43372710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1117 (P1117S)
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: P1117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: P1117S

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T A 13: 112,500,009 (GRCm39) D257E probably benign Het
Arhgef18 T C 8: 3,494,938 (GRCm39) V399A probably damaging Het
Cd48 A G 1: 171,527,156 (GRCm39) Q194R probably damaging Het
Cdk13 G A 13: 17,937,833 (GRCm39) R737C probably damaging Het
Clasrp A T 7: 19,328,865 (GRCm39) I89N probably damaging Het
Clrn1 G T 3: 58,792,318 (GRCm39) N48K probably damaging Het
Cntrl T A 2: 35,043,451 (GRCm39) V1313E possibly damaging Het
Cyld T A 8: 89,471,444 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dtl T C 1: 191,301,815 (GRCm39) T81A probably damaging Het
Dus1l C T 11: 120,682,901 (GRCm39) E299K probably benign Het
E130114P18Rik A T 4: 97,463,129 (GRCm39) D14E possibly damaging Het
Fam83g C A 11: 61,586,095 (GRCm39) H228N probably damaging Het
Fhod3 A T 18: 25,223,382 (GRCm39) K909N possibly damaging Het
Fign T A 2: 63,809,363 (GRCm39) I636L probably benign Het
Foxm1 A G 6: 128,349,519 (GRCm39) E346G probably null Het
Gcc2 T C 10: 58,126,204 (GRCm39) Y1271H probably benign Het
Gcn1 T C 5: 115,754,537 (GRCm39) V2379A probably benign Het
Grin2d G T 7: 45,483,330 (GRCm39) P949Q probably damaging Het
Ighv1-43 C A 12: 114,909,762 (GRCm39) M53I probably benign Het
Itgad A G 7: 127,822,875 (GRCm39) *97W probably null Het
Jade1 C T 3: 41,551,106 (GRCm39) R2* probably null Het
Lama3 G T 18: 12,615,141 (GRCm39) C1355F probably damaging Het
Map3k13 T C 16: 21,710,752 (GRCm39) S12P probably benign Het
Masp2 A G 4: 148,696,608 (GRCm39) T402A probably benign Het
Mill1 A C 7: 17,996,472 (GRCm39) K96T probably benign Het
Muc19 T G 15: 91,761,955 (GRCm39) noncoding transcript Het
Muc5b C A 7: 141,410,590 (GRCm39) T1321N unknown Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or1ad1 T C 11: 50,875,978 (GRCm39) V150A probably benign Het
Or1e35 T A 11: 73,797,677 (GRCm39) I214F probably damaging Het
Pdgfra C T 5: 75,342,185 (GRCm39) P669S probably damaging Het
Procr A G 2: 155,595,384 (GRCm39) N63D probably damaging Het
Prrc2c A G 1: 162,518,799 (GRCm39) S2136P probably damaging Het
Rab11fip1 T C 8: 27,642,769 (GRCm39) M677V probably benign Het
Rad52 T A 6: 119,889,946 (GRCm39) probably benign Het
Rasa1 A G 13: 85,436,509 (GRCm39) probably null Het
Rogdi T C 16: 4,828,363 (GRCm39) T189A probably damaging Het
Rph3al G A 11: 75,799,845 (GRCm39) T38M probably damaging Het
Rps6ka2 T A 17: 7,566,707 (GRCm39) V655E possibly damaging Het
Sik3 T C 9: 46,109,512 (GRCm39) F499L probably damaging Het
Skint4 A G 4: 112,003,728 (GRCm39) N387S probably benign Het
Slc6a12 C T 6: 121,333,862 (GRCm39) probably benign Het
Stk36 A G 1: 74,665,255 (GRCm39) T667A probably benign Het
Svep1 T C 4: 58,053,212 (GRCm39) I3378V probably benign Het
Thnsl1 C T 2: 21,218,175 (GRCm39) T122I probably damaging Het
Timeless G A 10: 128,075,889 (GRCm39) probably benign Het
Tnxb G A 17: 34,914,909 (GRCm39) V1966I possibly damaging Het
Tril A G 6: 53,796,698 (GRCm39) F175L probably damaging Het
Vav1 A G 17: 57,613,140 (GRCm39) Y604C probably damaging Het
Zfp423 T A 8: 88,508,074 (GRCm39) M736L probably benign Het
Zscan10 A C 17: 23,826,208 (GRCm39) E123D 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
R0379:Atp8b5 UTSW 4 43,361,898 (GRCm39) missense probably damaging 0.99
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
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'- AGGACTGAAATATAGCTGTGTGC -3'
(R):5'- TCTTGCCAGACGTGATGAGG -3'

Sequencing Primer
(F):5'- GTGTGCTGGCTGATTTCTCCC -3'
(R):5'- CCCAAAGCCCTGTTTGTGG -3'
Posted On 2015-11-11