Incidental Mutation 'IGL02184:Atp8b3'
ID284288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b3
Ensembl Gene ENSMUSG00000003341
Gene NameATPase, class I, type 8B, member 3
Synonyms1700042F02Rik, SAPLT, 1700056N23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL02184
Quality Score
Status
Chromosome10
Chromosomal Location80519584-80539124 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 80527233 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000220326]
Predicted Effect probably benign
Transcript: ENSMUST00000020383
SMART Domains Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 20 97 9.3e-29 PFAM
Pfam:E1-E2_ATPase 121 367 2.2e-10 PFAM
Pfam:HAD 404 866 3.7e-17 PFAM
Pfam:Cation_ATPase 481 580 8.3e-12 PFAM
Pfam:PhoLip_ATPase_C 883 1135 4.2e-61 PFAM
low complexity region 1140 1153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220326
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T G 13: 63,068,111 I399S possibly damaging Het
Adam15 C T 3: 89,345,934 probably benign Het
Antxr2 A C 5: 97,977,595 probably null Het
Brwd1 A T 16: 96,013,829 M1417K probably damaging Het
Camk2d A T 3: 126,797,773 R297S probably damaging Het
Cntnap1 A T 11: 101,178,365 H215L probably damaging Het
Cytip T C 2: 58,133,738 S357G probably damaging Het
Fancg A G 4: 43,006,872 Y273H possibly damaging Het
Fbxo36 A G 1: 84,881,164 S57G probably benign Het
Fgf8 A T 19: 45,737,216 L141Q probably damaging Het
Gm5039 T C 12: 88,321,181 R101G probably benign Het
Gm765 T C 6: 98,248,098 S75G possibly damaging Het
Grm5 C T 7: 88,026,442 T388M probably damaging Het
Hipk1 A G 3: 103,758,750 L589P possibly damaging Het
Kiz T C 2: 146,889,600 S337P probably benign Het
Lrrc37a A T 11: 103,497,609 I2330K unknown Het
Mdfic T A 6: 15,770,367 I124K possibly damaging Het
Mttp A G 3: 138,116,000 probably null Het
Myom1 G A 17: 71,072,137 S632N possibly damaging Het
Nlrp12 T C 7: 3,240,464 K473E probably damaging Het
Nrp2 C A 1: 62,718,940 C28* probably null Het
Nwd2 G T 5: 63,805,677 G868V probably damaging Het
Olfr1134 A G 2: 87,656,792 L43P probably damaging Het
Olfr1246 G A 2: 89,590,293 T274I probably damaging Het
Olfr48 G A 2: 89,844,385 A196V probably damaging Het
Pappa A T 4: 65,340,691 M1559L possibly damaging Het
Pmm2 T A 16: 8,637,804 D10E possibly damaging Het
Polm T C 11: 5,830,137 Q300R probably benign Het
Prrc2b T A 2: 32,221,455 N1208K probably benign Het
Serpinb3c T C 1: 107,271,918 D291G probably damaging Het
Slc1a2 T C 2: 102,748,544 F268S probably damaging Het
Slc26a4 A G 12: 31,549,949 Y127H probably damaging Het
Slc29a4 A G 5: 142,717,751 Y260C probably damaging Het
Sorbs3 C T 14: 70,184,006 probably null Het
Spen T C 4: 141,487,606 Y534C unknown Het
Tmem237 T C 1: 59,120,111 probably null Het
Tnfrsf21 A T 17: 43,085,463 N546I probably benign Het
Tpgs2 T A 18: 25,140,573 D177V probably damaging Het
Tpx2 C T 2: 152,882,320 R339* probably null Het
Trim12c T C 7: 104,348,223 Y42C probably benign Het
Trip10 A T 17: 57,257,272 E341V probably damaging Het
Trpm8 A T 1: 88,330,694 probably null Het
Ttc37 A G 13: 76,111,691 K37E probably damaging Het
Ubr1 T A 2: 120,900,508 I1221F probably benign Het
Ucp2 C T 7: 100,499,322 A301V probably benign Het
Zfyve1 T C 12: 83,558,693 I411V probably benign Het
Other mutations in Atp8b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Atp8b3 APN 10 80530987 missense probably damaging 1.00
IGL00484:Atp8b3 APN 10 80526164 splice site probably benign
IGL00904:Atp8b3 APN 10 80528764 missense probably damaging 1.00
IGL01326:Atp8b3 APN 10 80524376 missense probably damaging 0.98
IGL01368:Atp8b3 APN 10 80534229 splice site probably benign
IGL01448:Atp8b3 APN 10 80520422 missense probably benign 0.02
IGL01556:Atp8b3 APN 10 80530968 nonsense probably null
IGL01754:Atp8b3 APN 10 80530961 splice site probably null
IGL01809:Atp8b3 APN 10 80520011 missense probably benign 0.02
IGL01895:Atp8b3 APN 10 80521828 missense possibly damaging 0.80
IGL02224:Atp8b3 APN 10 80525976 splice site probably benign
IGL02377:Atp8b3 APN 10 80520294 missense probably benign 0.06
IGL02405:Atp8b3 APN 10 80530628 missense probably damaging 1.00
IGL03090:Atp8b3 APN 10 80530604 missense probably damaging 1.00
IGL03244:Atp8b3 APN 10 80534458 missense probably damaging 1.00
R0277:Atp8b3 UTSW 10 80526909 missense probably benign 0.21
R0908:Atp8b3 UTSW 10 80520084 missense probably benign 0.03
R0973:Atp8b3 UTSW 10 80534198 missense probably damaging 1.00
R1069:Atp8b3 UTSW 10 80531018 missense probably damaging 1.00
R1087:Atp8b3 UTSW 10 80520183 missense probably benign 0.00
R1553:Atp8b3 UTSW 10 80532542 missense probably damaging 1.00
R1603:Atp8b3 UTSW 10 80525785 missense probably benign 0.06
R1606:Atp8b3 UTSW 10 80532578 missense probably damaging 1.00
R1707:Atp8b3 UTSW 10 80521801 unclassified probably null
R1717:Atp8b3 UTSW 10 80528797 missense probably damaging 1.00
R1876:Atp8b3 UTSW 10 80530078 missense possibly damaging 0.70
R1939:Atp8b3 UTSW 10 80525386 nonsense probably null
R2138:Atp8b3 UTSW 10 80527105 missense possibly damaging 0.79
R2239:Atp8b3 UTSW 10 80530988 missense probably damaging 1.00
R2429:Atp8b3 UTSW 10 80526894 missense probably benign 0.02
R2696:Atp8b3 UTSW 10 80534183 missense possibly damaging 0.94
R2910:Atp8b3 UTSW 10 80519912 missense possibly damaging 0.90
R3424:Atp8b3 UTSW 10 80536347 missense probably benign 0.35
R3425:Atp8b3 UTSW 10 80536347 missense probably benign 0.35
R3432:Atp8b3 UTSW 10 80526180 missense probably benign 0.10
R3841:Atp8b3 UTSW 10 80529706 missense possibly damaging 0.95
R4515:Atp8b3 UTSW 10 80523847 missense probably benign
R4518:Atp8b3 UTSW 10 80523847 missense probably benign
R4519:Atp8b3 UTSW 10 80523847 missense probably benign
R4619:Atp8b3 UTSW 10 80526024 missense possibly damaging 0.67
R4648:Atp8b3 UTSW 10 80525623 missense possibly damaging 0.94
R4709:Atp8b3 UTSW 10 80536770 unclassified probably null
R4774:Atp8b3 UTSW 10 80536322 missense probably damaging 1.00
R4796:Atp8b3 UTSW 10 80524354 missense probably damaging 1.00
R5000:Atp8b3 UTSW 10 80521842 missense possibly damaging 0.82
R5398:Atp8b3 UTSW 10 80529699 missense probably damaging 1.00
R5778:Atp8b3 UTSW 10 80520173 missense probably benign
R5990:Atp8b3 UTSW 10 80525697 missense possibly damaging 0.65
R6124:Atp8b3 UTSW 10 80529681 missense probably damaging 1.00
R6427:Atp8b3 UTSW 10 80520323 unclassified probably null
R6748:Atp8b3 UTSW 10 80525224 missense possibly damaging 0.56
R6756:Atp8b3 UTSW 10 80526061 missense possibly damaging 0.76
Posted On2015-04-16