Incidental Mutation 'R9748:Atp8b3'
ID |
732336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b3
|
Ensembl Gene |
ENSMUSG00000003341 |
Gene Name |
ATPase, class I, type 8B, member 3 |
Synonyms |
1700042F02Rik, 1700056N23Rik, SAPLT |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R9748 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80364407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 567
(T567I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
AlphaFold |
Q6UQ17 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020383
AA Change: T567I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: T567I
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 damaging
Transcript: ENSMUST00000220326
AA Change: T567I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,301,068 (GRCm39) |
T221A |
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,310,628 (GRCm39) |
V962I |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,488,640 (GRCm39) |
I931F |
probably damaging |
Het |
Anxa2r2 |
T |
A |
13: 120,488,200 (GRCm39) |
E116D |
possibly damaging |
Het |
Arih1 |
T |
G |
9: 59,300,581 (GRCm39) |
D555A |
possibly damaging |
Het |
Arsg |
A |
G |
11: 109,381,452 (GRCm39) |
D65G |
probably damaging |
Het |
Camkk2 |
G |
C |
5: 122,872,182 (GRCm39) |
R575G |
probably benign |
Het |
Ccdc168 |
G |
T |
1: 44,095,824 (GRCm39) |
S1758Y |
possibly damaging |
Het |
Ccdc88b |
G |
T |
19: 6,831,461 (GRCm39) |
L494M |
probably damaging |
Het |
Cdc7 |
A |
G |
5: 107,123,405 (GRCm39) |
K317E |
possibly damaging |
Het |
Cfh |
A |
G |
1: 140,090,687 (GRCm39) |
|
probably null |
Het |
Cp |
T |
G |
3: 20,043,335 (GRCm39) |
V1041G |
possibly damaging |
Het |
Cpeb3 |
A |
G |
19: 37,151,926 (GRCm39) |
V150A |
probably benign |
Het |
Cyp7a1 |
T |
A |
4: 6,269,216 (GRCm39) |
E352V |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,976,290 (GRCm39) |
H1253L |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,672,761 (GRCm39) |
S811P |
possibly damaging |
Het |
Efcab5 |
A |
T |
11: 77,007,022 (GRCm39) |
Y867* |
probably null |
Het |
Eif2ak1 |
A |
G |
5: 143,819,031 (GRCm39) |
T231A |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,247,730 (GRCm39) |
C256S |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,090,241 (GRCm39) |
N1140S |
possibly damaging |
Het |
Etnppl |
A |
T |
3: 130,414,002 (GRCm39) |
M34L |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,364,469 (GRCm39) |
C549W |
possibly damaging |
Het |
Fhod1 |
G |
A |
8: 106,058,323 (GRCm39) |
A811V |
probably damaging |
Het |
Flcn |
C |
T |
11: 59,692,980 (GRCm39) |
S198N |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,929 (GRCm39) |
H589L |
unknown |
Het |
Gm8108 |
G |
T |
14: 4,110,527 (GRCm38) |
|
probably benign |
Het |
Hcn4 |
C |
T |
9: 58,730,996 (GRCm39) |
R68W |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,926,336 (GRCm39) |
L38P |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,349,496 (GRCm39) |
T351A |
probably benign |
Het |
Ildr2 |
T |
C |
1: 166,096,889 (GRCm39) |
L36P |
probably damaging |
Het |
Itgb1bp1 |
C |
T |
12: 21,324,876 (GRCm39) |
C60Y |
probably damaging |
Het |
Jrk |
A |
G |
15: 74,579,225 (GRCm39) |
L20P |
probably damaging |
Het |
Kif5c |
C |
T |
2: 49,584,859 (GRCm39) |
A194V |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,316,116 (GRCm39) |
L745F |
probably damaging |
Het |
Ly9 |
A |
T |
1: 171,428,722 (GRCm39) |
D299E |
possibly damaging |
Het |
Mfsd1 |
C |
T |
3: 67,499,910 (GRCm39) |
T185I |
possibly damaging |
Het |
Mprip |
A |
G |
11: 59,656,348 (GRCm39) |
Y808C |
probably damaging |
Het |
Mrps2 |
C |
A |
2: 28,359,594 (GRCm39) |
H150Q |
possibly damaging |
Het |
Mtcl3 |
A |
T |
10: 29,024,398 (GRCm39) |
D438V |
probably damaging |
Het |
Mturn |
A |
T |
6: 54,665,989 (GRCm39) |
|
probably null |
Het |
Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
Nckap5 |
G |
A |
1: 125,953,939 (GRCm39) |
P871L |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,421,631 (GRCm39) |
I401F |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,709,114 (GRCm39) |
V723M |
possibly damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,506,667 (GRCm39) |
S478P |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,123,538 (GRCm39) |
Y70C |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
Oas1h |
A |
T |
5: 121,005,088 (GRCm39) |
N179Y |
probably damaging |
Het |
Or1o11 |
T |
G |
17: 37,756,595 (GRCm39) |
V61G |
probably benign |
Het |
Or8b39 |
T |
A |
9: 37,996,353 (GRCm39) |
S74T |
probably benign |
Het |
Otof |
T |
C |
5: 30,540,998 (GRCm39) |
D847G |
probably damaging |
Het |
Pak1 |
C |
A |
7: 97,547,842 (GRCm39) |
D331E |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,373,555 (GRCm39) |
W1374R |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,704,871 (GRCm39) |
T355K |
possibly damaging |
Het |
Pramel27 |
A |
G |
4: 143,579,892 (GRCm39) |
*492W |
probably null |
Het |
Prkcd |
A |
T |
14: 30,320,800 (GRCm39) |
F607I |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,535,435 (GRCm39) |
S775P |
unknown |
Het |
Prss16 |
G |
T |
13: 22,192,504 (GRCm39) |
H154N |
possibly damaging |
Het |
Psme2b |
T |
C |
11: 48,836,779 (GRCm39) |
D56G |
possibly damaging |
Het |
Rapsn |
C |
T |
2: 90,875,823 (GRCm39) |
P400L |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,761 (GRCm39) |
D698G |
possibly damaging |
Het |
Rragc |
T |
C |
4: 123,818,658 (GRCm39) |
V291A |
possibly damaging |
Het |
Rras2 |
A |
G |
7: 113,716,629 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scyl2 |
A |
C |
10: 89,476,794 (GRCm39) |
M777R |
probably benign |
Het |
Serhl |
G |
T |
15: 82,998,597 (GRCm39) |
V235L |
probably benign |
Het |
Sh2b3 |
T |
C |
5: 121,955,874 (GRCm39) |
Y536C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,257,093 (GRCm39) |
M570V |
probably benign |
Het |
Slamf8 |
C |
T |
1: 172,411,800 (GRCm39) |
V232M |
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,929,941 (GRCm39) |
L143Q |
probably damaging |
Het |
Snx9 |
T |
A |
17: 5,949,670 (GRCm39) |
D123E |
probably benign |
Het |
Spopfm2 |
G |
A |
3: 94,083,155 (GRCm39) |
H219Y |
probably damaging |
Het |
Supt6 |
C |
A |
11: 78,108,767 (GRCm39) |
R1178L |
probably damaging |
Het |
Sycp2 |
T |
G |
2: 178,025,304 (GRCm39) |
E379D |
probably damaging |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tg |
A |
G |
15: 66,719,008 (GRCm39) |
M2655V |
possibly damaging |
Het |
Tiam2 |
C |
T |
17: 3,561,440 (GRCm39) |
T1335I |
probably benign |
Het |
Tmem154 |
T |
A |
3: 84,573,693 (GRCm39) |
L12Q |
possibly damaging |
Het |
Trpv3 |
A |
T |
11: 73,174,499 (GRCm39) |
I289F |
possibly damaging |
Het |
Tubgcp3 |
A |
G |
8: 12,699,758 (GRCm39) |
L365P |
probably damaging |
Het |
Tulp4 |
T |
C |
17: 6,291,480 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,142,072 (GRCm39) |
S163P |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,713,533 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
A |
G |
17: 18,463,989 (GRCm39) |
M767T |
probably benign |
Het |
Wasl |
A |
G |
6: 24,619,533 (GRCm39) |
V329A |
unknown |
Het |
Wdr62 |
T |
A |
7: 29,953,466 (GRCm39) |
M635L |
possibly damaging |
Het |
Wee1 |
G |
T |
7: 109,721,722 (GRCm39) |
E56* |
probably null |
Het |
Zc3h12c |
C |
T |
9: 52,055,231 (GRCm39) |
G193S |
probably damaging |
Het |
Zfp236 |
T |
A |
18: 82,637,008 (GRCm39) |
Q1426L |
possibly damaging |
Het |
Zfp74 |
T |
C |
7: 29,634,751 (GRCm39) |
Y319C |
probably 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 |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGTACCTCTCAGCATCTG -3'
(R):5'- AACGGGTCTACCAGGTTCTG -3'
Sequencing Primer
(F):5'- CTCAGCATCTGTGTACAGTCAGGAG -3'
(R):5'- CTGGCCATGATGGATTTTAACAGC -3'
|
Posted On |
2022-11-14 |