Incidental Mutation 'IGL01448:Atp8b3'
ID |
84495 |
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)
|
Stock # |
IGL01448
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80356256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1152
(P1152L)
|
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: P1152L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: P1152L
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020A23Rik |
A |
T |
2: 130,247,767 (GRCm39) |
E75D |
possibly damaging |
Het |
1700084J12Rik |
A |
G |
15: 33,405,779 (GRCm39) |
|
probably benign |
Het |
2610303G11Rik |
T |
A |
9: 98,068,762 (GRCm39) |
|
noncoding transcript |
Het |
4931414P19Rik |
T |
C |
14: 54,823,417 (GRCm39) |
D320G |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,433,672 (GRCm39) |
E34K |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,654,881 (GRCm39) |
N3142K |
possibly damaging |
Het |
Anapc7 |
G |
A |
5: 122,566,276 (GRCm39) |
A62T |
probably damaging |
Het |
Cc2d2a |
C |
T |
5: 43,841,527 (GRCm39) |
T181I |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,555 (GRCm39) |
L2835P |
probably damaging |
Het |
Ctns |
A |
T |
11: 73,079,548 (GRCm39) |
V99D |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,134 (GRCm39) |
R429G |
probably damaging |
Het |
Ddx11 |
T |
C |
17: 66,441,132 (GRCm39) |
V218A |
probably damaging |
Het |
Eftud2 |
G |
A |
11: 102,756,389 (GRCm39) |
|
probably benign |
Het |
Erich1 |
G |
T |
8: 14,128,853 (GRCm39) |
T29N |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,686 (GRCm39) |
E215G |
probably damaging |
Het |
Fam184a |
G |
T |
10: 53,575,045 (GRCm39) |
A188E |
probably benign |
Het |
Fign |
A |
G |
2: 63,810,032 (GRCm39) |
S413P |
probably damaging |
Het |
Fkbp6 |
A |
G |
5: 135,378,550 (GRCm39) |
S33P |
probably damaging |
Het |
Glb1 |
A |
G |
9: 114,279,745 (GRCm39) |
|
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,542,437 (GRCm39) |
|
probably benign |
Het |
Helz2 |
T |
C |
2: 180,875,770 (GRCm39) |
T1575A |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,513,890 (GRCm39) |
E32G |
probably damaging |
Het |
Ints5 |
C |
T |
19: 8,872,851 (GRCm39) |
P270L |
possibly damaging |
Het |
Itga7 |
G |
T |
10: 128,785,337 (GRCm39) |
E847* |
probably null |
Het |
Kcns3 |
A |
C |
12: 11,141,644 (GRCm39) |
S352A |
possibly damaging |
Het |
Kiz |
A |
G |
2: 146,705,721 (GRCm39) |
K94E |
probably benign |
Het |
Lin7b |
C |
T |
7: 45,018,624 (GRCm39) |
V12M |
probably damaging |
Het |
Myo18b |
A |
T |
5: 112,959,570 (GRCm39) |
I1409N |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,777,161 (GRCm39) |
H407R |
probably damaging |
Het |
Nelfa |
T |
C |
5: 34,056,146 (GRCm39) |
T506A |
probably damaging |
Het |
Or10p21 |
A |
G |
10: 128,847,729 (GRCm39) |
T192A |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,378 (GRCm39) |
M136K |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,235 (GRCm39) |
Y152* |
probably null |
Het |
Or6c69 |
A |
G |
10: 129,748,114 (GRCm39) |
I11T |
possibly damaging |
Het |
Pclo |
A |
C |
5: 14,726,408 (GRCm39) |
|
probably benign |
Het |
Pes1 |
G |
A |
11: 3,927,979 (GRCm39) |
E544K |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,568,315 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,976,244 (GRCm39) |
M1521V |
probably benign |
Het |
Rapgef2 |
C |
T |
3: 79,011,269 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,245,403 (GRCm39) |
V735A |
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,902 (GRCm39) |
S316P |
possibly damaging |
Het |
Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,373 (GRCm39) |
R918S |
probably benign |
Het |
St3gal4 |
T |
C |
9: 34,963,627 (GRCm39) |
K227R |
probably benign |
Het |
Stra6l |
T |
A |
4: 45,864,864 (GRCm39) |
|
probably null |
Het |
Stxbp5l |
T |
C |
16: 37,036,341 (GRCm39) |
I425V |
probably damaging |
Het |
Tcaf2 |
T |
C |
6: 42,607,262 (GRCm39) |
T231A |
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tnks |
A |
G |
8: 35,307,136 (GRCm39) |
Y1138H |
probably damaging |
Het |
Vezt |
T |
A |
10: 93,832,719 (GRCm39) |
I231F |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Zbed3 |
A |
G |
13: 95,473,142 (GRCm39) |
K189E |
possibly damaging |
Het |
Zfp512b |
T |
C |
2: 181,229,578 (GRCm39) |
T625A |
possibly damaging |
Het |
Zfp827 |
A |
T |
8: 79,787,362 (GRCm39) |
Q176L |
possibly damaging |
Het |
|
Other mutations in Atp8b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
IGL02377:Atp8b3
|
APN |
10 |
80,356,128 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2013-11-11 |