Incidental Mutation 'IGL01977:Atp8b5'
ID181749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b5
Ensembl Gene ENSMUSG00000028457
Gene NameATPase, class I, type 8B, member 5
Synonyms4930417M19Rik, FetA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01977
Quality Score
Status
Chromosome4
Chromosomal Location43267159-43373833 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 43320590 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056010
Predicted Effect probably null
Transcript: ENSMUST00000102953
SMART Domains Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457

DomainStartEndE-ValueType
coiled coil region 20 49 N/A INTRINSIC
Blast:CUB 55 90 1e-6 BLAST
Pfam:E1-E2_ATPase 107 305 4.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107937
Predicted Effect probably null
Transcript: ENSMUST00000107942
SMART Domains Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457

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
Predicted Effect probably benign
Transcript: ENSMUST00000136262
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 80,006,152 S1040T probably benign Het
Adam25 T C 8: 40,755,097 Y467H probably benign Het
Ank1 A G 8: 23,115,433 I1061V probably benign Het
Anxa10 T C 8: 62,076,314 E123G probably damaging Het
Arhgap35 G A 7: 16,563,203 L646F probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Carmil3 A G 14: 55,493,536 T87A probably damaging Het
Ccdc172 A G 19: 58,552,877 D256G possibly damaging Het
Cep350 C T 1: 155,911,968 A1375T probably benign Het
Chrdl2 A T 7: 100,022,056 Q127L probably benign Het
Cyp2c29 T C 19: 39,290,897 probably benign Het
Ddi1 C A 9: 6,266,226 V48F probably benign Het
Ddrgk1 C T 2: 130,655,246 probably benign Het
Fastkd1 C T 2: 69,694,588 V626I possibly damaging Het
Fgd5 A G 6: 92,024,562 T755A probably benign Het
Fpgt G T 3: 155,088,018 T124K probably damaging Het
Gnl2 G A 4: 125,047,612 probably null Het
Got1 A T 19: 43,515,845 S46T probably benign Het
Hbb-bt G T 7: 103,813,863 H3N probably benign Het
Ikbke C T 1: 131,272,101 probably benign Het
Il2rb A G 15: 78,481,697 S467P probably benign Het
Kcnma1 A G 14: 23,530,299 probably benign Het
Ltbp2 T C 12: 84,830,199 N391D probably damaging Het
Npr3 A T 15: 11,858,718 I360N probably damaging Het
Nradd G A 9: 110,622,169 P44S possibly damaging Het
Olfr1023 G T 2: 85,887,367 C189F probably damaging Het
Olfr871 G A 9: 20,212,459 V37I possibly damaging Het
Pcdh17 A G 14: 84,533,097 E1005G possibly damaging Het
Pcdhb11 A G 18: 37,422,291 T225A possibly damaging Het
Pja2 T C 17: 64,297,826 D454G probably benign Het
Pon3 T C 6: 5,221,670 Y320C probably damaging Het
Prl2a1 A G 13: 27,806,278 D70G probably damaging Het
Proc T A 18: 32,127,419 T218S probably benign Het
Proz G T 8: 13,066,913 G155V probably damaging Het
Rab11fip3 T C 17: 26,068,003 E392G possibly damaging Het
Rab3gap2 C T 1: 185,267,023 R976* probably null Het
Shisa2 G A 14: 59,629,986 C229Y probably damaging Het
Slc2a5 T C 4: 150,142,218 V379A probably damaging Het
Slc31a2 A T 4: 62,295,960 K47N probably damaging Het
Sult2a6 G A 7: 14,253,486 T88I probably benign Het
Tbc1d14 T C 5: 36,505,037 Y302C probably damaging Het
Thumpd3 C A 6: 113,059,966 N275K possibly damaging Het
Tnks2 T C 19: 36,872,590 probably null Het
Tube1 G A 10: 39,135,045 probably benign Het
Umodl1 T A 17: 30,973,768 Y290N probably damaging Het
Usp34 G A 11: 23,452,661 E726K probably damaging Het
Vmn2r84 T A 10: 130,394,066 D59V probably benign Het
Vps11 T A 9: 44,356,219 probably benign Het
Wdr19 T C 5: 65,228,569 Y631H probably benign Het
Wdr62 G A 7: 30,258,101 H88Y probably damaging Het
Wdr93 A T 7: 79,752,505 N184I probably damaging Het
Wnk4 T A 11: 101,265,414 F473Y probably damaging Het
Zbtb16 A G 9: 48,657,183 W661R probably damaging Het
Other mutations in Atp8b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Atp8b5 APN 4 43355567 missense probably damaging 1.00
IGL00970:Atp8b5 APN 4 43311938 missense probably benign 0.01
IGL01335:Atp8b5 APN 4 43302628 missense possibly damaging 0.90
IGL01462:Atp8b5 APN 4 43368010 missense possibly damaging 0.90
IGL01657:Atp8b5 APN 4 43291693 missense probably benign 0.04
IGL01935:Atp8b5 APN 4 43366638 missense probably benign 0.03
IGL02102:Atp8b5 APN 4 43364167 missense probably benign 0.10
IGL02369:Atp8b5 APN 4 43334205 missense probably benign
IGL02456:Atp8b5 APN 4 43365578 missense probably benign 0.16
IGL02696:Atp8b5 APN 4 43369634 missense possibly damaging 0.61
IGL02826:Atp8b5 APN 4 43366770 missense probably damaging 1.00
IGL02947:Atp8b5 APN 4 43305774 missense possibly damaging 0.49
R0128:Atp8b5 UTSW 4 43369715 critical splice donor site probably null
R0130:Atp8b5 UTSW 4 43369715 critical splice donor site probably null
R0243:Atp8b5 UTSW 4 43366057 missense probably benign
R0256:Atp8b5 UTSW 4 43302576 intron probably benign
R0379:Atp8b5 UTSW 4 43361898 missense probably damaging 0.99
R0671:Atp8b5 UTSW 4 43291672 missense possibly damaging 0.83
R1109:Atp8b5 UTSW 4 43305719 intron probably benign
R1442:Atp8b5 UTSW 4 43334313 missense probably damaging 0.99
R1454:Atp8b5 UTSW 4 43302590 missense probably benign
R1469:Atp8b5 UTSW 4 43291733 critical splice donor site probably null
R1469:Atp8b5 UTSW 4 43291733 critical splice donor site probably null
R1503:Atp8b5 UTSW 4 43344430 missense probably damaging 1.00
R1580:Atp8b5 UTSW 4 43355673 missense possibly damaging 0.49
R1677:Atp8b5 UTSW 4 43372903 missense possibly damaging 0.61
R1861:Atp8b5 UTSW 4 43372906 missense probably damaging 1.00
R1899:Atp8b5 UTSW 4 43361804 missense possibly damaging 0.47
R1903:Atp8b5 UTSW 4 43357063 missense probably damaging 0.98
R1961:Atp8b5 UTSW 4 43369688 missense probably damaging 0.98
R2131:Atp8b5 UTSW 4 43370726 missense probably benign 0.33
R2971:Atp8b5 UTSW 4 43361953 splice site probably benign
R3023:Atp8b5 UTSW 4 43311957 missense possibly damaging 0.82
R3433:Atp8b5 UTSW 4 43372697 missense probably benign
R3690:Atp8b5 UTSW 4 43368055 missense probably damaging 1.00
R4157:Atp8b5 UTSW 4 43365591 missense probably damaging 0.97
R4484:Atp8b5 UTSW 4 43357016 missense probably damaging 1.00
R4510:Atp8b5 UTSW 4 43320629 missense probably damaging 1.00
R4511:Atp8b5 UTSW 4 43320629 missense probably damaging 1.00
R4679:Atp8b5 UTSW 4 43365955 missense probably benign 0.16
R4753:Atp8b5 UTSW 4 43372710 missense probably damaging 1.00
R4761:Atp8b5 UTSW 4 43308504 makesense probably null
R4784:Atp8b5 UTSW 4 43356980 missense probably damaging 0.97
R4785:Atp8b5 UTSW 4 43356980 missense probably damaging 0.97
R4855:Atp8b5 UTSW 4 43344449 missense probably benign
R5422:Atp8b5 UTSW 4 43366644 missense probably benign 0.10
R5915:Atp8b5 UTSW 4 43370577 missense probably damaging 1.00
R6228:Atp8b5 UTSW 4 43304674 missense probably damaging 1.00
R6496:Atp8b5 UTSW 4 43371003 missense probably benign 0.03
R6708:Atp8b5 UTSW 4 43334249 missense probably benign
R6931:Atp8b5 UTSW 4 43364108 critical splice acceptor site probably null
R7021:Atp8b5 UTSW 4 43355618 missense probably damaging 0.99
R7085:Atp8b5 UTSW 4 43361835 missense probably damaging 1.00
R7207:Atp8b5 UTSW 4 43357018 missense probably damaging 0.97
R7404:Atp8b5 UTSW 4 43342640 missense probably benign 0.10
R7448:Atp8b5 UTSW 4 43366021 missense probably benign
R7465:Atp8b5 UTSW 4 43271269 missense probably benign 0.00
R7526:Atp8b5 UTSW 4 43366609 missense probably damaging 0.99
R7616:Atp8b5 UTSW 4 43370823 critical splice donor site probably null
R7698:Atp8b5 UTSW 4 43366735 missense probably benign 0.27
X0025:Atp8b5 UTSW 4 43366774 missense probably damaging 1.00
Posted On2014-05-07