Incidental Mutation 'IGL02377:Atp8b3'
ID 291165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b3
Ensembl Gene ENSMUSG00000003341
Gene Name ATPase, class I, type 8B, member 3
Synonyms 1700042F02Rik, 1700056N23Rik, SAPLT
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02377
Quality Score
Status
Chromosome 10
Chromosomal Location 80355418-80374958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80356128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1195 (S1195P)
Ref Sequence ENSEMBL: ENSMUSP00000020383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000051773] [ENSMUST00000220326]
AlphaFold Q6UQ17
Predicted Effect probably benign
Transcript: ENSMUST00000020383
AA Change: S1195P

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: S1195P

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: ENSMUST00000051773
SMART Domains Protein: ENSMUSP00000053288
Gene: ENSMUSG00000045518

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 56 76 N/A INTRINSIC
low complexity region 98 116 N/A INTRINSIC
low complexity region 126 151 N/A INTRINSIC
low complexity region 190 227 N/A INTRINSIC
CUT 310 395 1.24e-42 SMART
HOX 411 473 1.07e-12 SMART
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null Het
Other mutations in Atp8b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Atp8b3 APN 10 80,366,821 (GRCm39) missense probably damaging 1.00
IGL00484:Atp8b3 APN 10 80,361,998 (GRCm39) splice site probably benign
IGL00904:Atp8b3 APN 10 80,364,598 (GRCm39) missense probably damaging 1.00
IGL01326:Atp8b3 APN 10 80,360,210 (GRCm39) missense probably damaging 0.98
IGL01368:Atp8b3 APN 10 80,370,063 (GRCm39) splice site probably benign
IGL01448:Atp8b3 APN 10 80,356,256 (GRCm39) missense probably benign 0.02
IGL01556:Atp8b3 APN 10 80,366,802 (GRCm39) nonsense probably null
IGL01754:Atp8b3 APN 10 80,366,795 (GRCm39) splice site probably null
IGL01809:Atp8b3 APN 10 80,355,845 (GRCm39) missense probably benign 0.02
IGL01895:Atp8b3 APN 10 80,357,662 (GRCm39) missense possibly damaging 0.80
IGL02184:Atp8b3 APN 10 80,363,067 (GRCm39) splice site probably benign
IGL02224:Atp8b3 APN 10 80,361,810 (GRCm39) splice site probably benign
IGL02405:Atp8b3 APN 10 80,366,462 (GRCm39) missense probably damaging 1.00
IGL03090:Atp8b3 APN 10 80,366,438 (GRCm39) missense probably damaging 1.00
IGL03244:Atp8b3 APN 10 80,370,292 (GRCm39) missense probably damaging 1.00
PIT4544001:Atp8b3 UTSW 10 80,366,420 (GRCm39) missense probably benign 0.14
R0277:Atp8b3 UTSW 10 80,362,743 (GRCm39) missense probably benign 0.21
R0908:Atp8b3 UTSW 10 80,355,918 (GRCm39) missense probably benign 0.03
R0973:Atp8b3 UTSW 10 80,370,032 (GRCm39) missense probably damaging 1.00
R1069:Atp8b3 UTSW 10 80,366,852 (GRCm39) missense probably damaging 1.00
R1087:Atp8b3 UTSW 10 80,356,017 (GRCm39) missense probably benign 0.00
R1553:Atp8b3 UTSW 10 80,368,376 (GRCm39) missense probably damaging 1.00
R1603:Atp8b3 UTSW 10 80,361,619 (GRCm39) missense probably benign 0.06
R1606:Atp8b3 UTSW 10 80,368,412 (GRCm39) missense probably damaging 1.00
R1707:Atp8b3 UTSW 10 80,357,635 (GRCm39) splice site probably null
R1717:Atp8b3 UTSW 10 80,364,631 (GRCm39) missense probably damaging 1.00
R1876:Atp8b3 UTSW 10 80,365,912 (GRCm39) missense possibly damaging 0.70
R1939:Atp8b3 UTSW 10 80,361,220 (GRCm39) nonsense probably null
R2138:Atp8b3 UTSW 10 80,362,939 (GRCm39) missense possibly damaging 0.79
R2239:Atp8b3 UTSW 10 80,366,822 (GRCm39) missense probably damaging 1.00
R2429:Atp8b3 UTSW 10 80,362,728 (GRCm39) missense probably benign 0.02
R2696:Atp8b3 UTSW 10 80,370,017 (GRCm39) missense possibly damaging 0.94
R2910:Atp8b3 UTSW 10 80,355,746 (GRCm39) missense possibly damaging 0.90
R3424:Atp8b3 UTSW 10 80,372,181 (GRCm39) missense probably benign 0.35
R3425:Atp8b3 UTSW 10 80,372,181 (GRCm39) missense probably benign 0.35
R3432:Atp8b3 UTSW 10 80,362,014 (GRCm39) missense probably benign 0.10
R3841:Atp8b3 UTSW 10 80,365,540 (GRCm39) missense possibly damaging 0.95
R4515:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4518:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4519:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4619:Atp8b3 UTSW 10 80,361,858 (GRCm39) missense possibly damaging 0.67
R4648:Atp8b3 UTSW 10 80,361,457 (GRCm39) missense possibly damaging 0.94
R4709:Atp8b3 UTSW 10 80,372,604 (GRCm39) splice site probably null
R4774:Atp8b3 UTSW 10 80,372,156 (GRCm39) missense probably damaging 1.00
R4796:Atp8b3 UTSW 10 80,360,188 (GRCm39) missense probably damaging 1.00
R5000:Atp8b3 UTSW 10 80,357,676 (GRCm39) missense possibly damaging 0.82
R5398:Atp8b3 UTSW 10 80,365,533 (GRCm39) missense probably damaging 1.00
R5778:Atp8b3 UTSW 10 80,356,007 (GRCm39) missense probably benign
R5990:Atp8b3 UTSW 10 80,361,531 (GRCm39) missense possibly damaging 0.65
R6124:Atp8b3 UTSW 10 80,365,515 (GRCm39) missense probably damaging 1.00
R6427:Atp8b3 UTSW 10 80,356,157 (GRCm39) splice site probably null
R6748:Atp8b3 UTSW 10 80,361,058 (GRCm39) missense possibly damaging 0.56
R6756:Atp8b3 UTSW 10 80,361,895 (GRCm39) missense possibly damaging 0.76
R7051:Atp8b3 UTSW 10 80,365,552 (GRCm39) missense probably damaging 0.99
R7051:Atp8b3 UTSW 10 80,355,858 (GRCm39) missense probably benign 0.02
R7052:Atp8b3 UTSW 10 80,355,858 (GRCm39) missense probably benign 0.02
R7418:Atp8b3 UTSW 10 80,365,926 (GRCm39) missense probably damaging 0.99
R7426:Atp8b3 UTSW 10 80,365,463 (GRCm39) critical splice donor site probably null
R7625:Atp8b3 UTSW 10 80,355,980 (GRCm39) missense probably benign 0.00
R7673:Atp8b3 UTSW 10 80,360,240 (GRCm39) missense probably damaging 0.99
R7921:Atp8b3 UTSW 10 80,366,437 (GRCm39) missense probably damaging 1.00
R8077:Atp8b3 UTSW 10 80,366,858 (GRCm39) missense possibly damaging 0.95
R8235:Atp8b3 UTSW 10 80,365,650 (GRCm39) missense probably damaging 0.96
R8354:Atp8b3 UTSW 10 80,361,633 (GRCm39) missense probably benign 0.00
R8454:Atp8b3 UTSW 10 80,361,633 (GRCm39) missense probably benign 0.00
R8501:Atp8b3 UTSW 10 80,355,980 (GRCm39) missense probably benign
R8712:Atp8b3 UTSW 10 80,365,923 (GRCm39) missense possibly damaging 0.52
R8962:Atp8b3 UTSW 10 80,355,896 (GRCm39) missense probably benign 0.13
R9129:Atp8b3 UTSW 10 80,368,412 (GRCm39) missense probably damaging 1.00
R9333:Atp8b3 UTSW 10 80,360,180 (GRCm39) missense probably benign 0.01
R9438:Atp8b3 UTSW 10 80,361,409 (GRCm39) missense probably damaging 1.00
R9486:Atp8b3 UTSW 10 80,366,821 (GRCm39) missense probably damaging 1.00
R9554:Atp8b3 UTSW 10 80,360,197 (GRCm39) missense probably damaging 1.00
R9570:Atp8b3 UTSW 10 80,361,822 (GRCm39) missense probably benign 0.05
R9682:Atp8b3 UTSW 10 80,371,230 (GRCm39) missense probably damaging 1.00
R9748:Atp8b3 UTSW 10 80,364,407 (GRCm39) missense probably damaging 0.96
RF006:Atp8b3 UTSW 10 80,362,070 (GRCm39) missense probably benign 0.15
Z1177:Atp8b3 UTSW 10 80,366,911 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16