Incidental Mutation 'R2138:Atp8b3'
ID |
235975 |
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 |
040141-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R2138 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 80362939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 635
(A635S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
AlphaFold |
Q6UQ17 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020383
AA Change: A635S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: A635S
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 |
possibly damaging
Transcript: ENSMUST00000220326
AA Change: A635S
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,122 (GRCm39) |
V6A |
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,630,475 (GRCm39) |
F1262L |
probably damaging |
Het |
Acot13 |
A |
T |
13: 25,002,188 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,593,439 (GRCm39) |
I4183V |
probably benign |
Het |
Aff4 |
T |
G |
11: 53,263,339 (GRCm39) |
S120A |
possibly damaging |
Het |
Afp |
A |
G |
5: 90,647,506 (GRCm39) |
E250G |
probably damaging |
Het |
Ankrd34b |
A |
T |
13: 92,575,914 (GRCm39) |
D382V |
probably damaging |
Het |
Arhgef19 |
A |
T |
4: 140,978,111 (GRCm39) |
I577F |
probably damaging |
Het |
Arl6 |
A |
G |
16: 59,442,830 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,773,268 (GRCm39) |
M333K |
probably benign |
Het |
Baiap2 |
A |
G |
11: 119,847,928 (GRCm39) |
T19A |
possibly damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,645 (GRCm39) |
D206G |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,457,293 (GRCm39) |
M85K |
probably benign |
Het |
Clec4a4 |
A |
G |
6: 123,000,937 (GRCm39) |
N217D |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,979,088 (GRCm39) |
Y2832C |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,449,189 (GRCm39) |
I962T |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,796,619 (GRCm39) |
Y852C |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
Dusp12 |
G |
A |
1: 170,708,166 (GRCm39) |
Q114* |
probably null |
Het |
Elfn2 |
G |
T |
15: 78,558,238 (GRCm39) |
T103K |
probably benign |
Het |
Eme1 |
A |
T |
11: 94,539,018 (GRCm39) |
V314E |
probably damaging |
Het |
Epb41l3 |
A |
G |
17: 69,514,875 (GRCm39) |
E4G |
probably damaging |
Het |
Exoc6b |
A |
T |
6: 84,966,464 (GRCm39) |
L170Q |
probably damaging |
Het |
Fbln5 |
C |
T |
12: 101,728,179 (GRCm39) |
M261I |
probably benign |
Het |
Fgf22 |
T |
C |
10: 79,592,435 (GRCm39) |
V64A |
probably damaging |
Het |
Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
Gatad2b |
T |
A |
3: 90,259,420 (GRCm39) |
S401R |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,622 (GRCm39) |
S722R |
probably damaging |
Het |
Gm10754 |
A |
T |
10: 97,518,132 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
A |
6: 64,322,782 (GRCm39) |
R594Q |
probably damaging |
Het |
Grm7 |
C |
A |
6: 110,623,098 (GRCm39) |
N90K |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,377,589 (GRCm39) |
V3452M |
possibly damaging |
Het |
Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
Klra3 |
A |
T |
6: 130,310,121 (GRCm39) |
V133D |
probably benign |
Het |
Lims2 |
A |
G |
18: 32,088,460 (GRCm39) |
E220G |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
Mbl1 |
T |
A |
14: 40,875,648 (GRCm39) |
I34K |
possibly damaging |
Het |
Mgam |
C |
T |
6: 40,733,384 (GRCm39) |
P839S |
probably damaging |
Het |
Mmp9 |
G |
T |
2: 164,794,387 (GRCm39) |
E460* |
probably null |
Het |
Mov10 |
T |
C |
3: 104,711,558 (GRCm39) |
H316R |
probably benign |
Het |
Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,774,633 (GRCm39) |
S2082P |
probably benign |
Het |
Myrfl |
G |
A |
10: 116,631,443 (GRCm39) |
T706I |
probably benign |
Het |
Nampt |
C |
A |
12: 32,888,421 (GRCm39) |
H191N |
possibly damaging |
Het |
Niban1 |
G |
A |
1: 151,572,002 (GRCm39) |
V316M |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,903,102 (GRCm39) |
E693G |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,894,491 (GRCm39) |
Y1191* |
probably null |
Het |
Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
Or1r1 |
A |
T |
11: 73,875,129 (GRCm39) |
Y102N |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,069 (GRCm39) |
Y259H |
probably damaging |
Het |
Osbpl10 |
A |
G |
9: 115,061,202 (GRCm39) |
N760S |
probably benign |
Het |
Otof |
A |
G |
5: 30,619,114 (GRCm39) |
V10A |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,364,853 (GRCm39) |
E664A |
probably damaging |
Het |
Pnp2 |
T |
C |
14: 51,201,161 (GRCm39) |
S178P |
probably damaging |
Het |
Pvr |
G |
A |
7: 19,650,927 (GRCm39) |
T199I |
probably damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnaseh2b |
T |
C |
14: 62,598,794 (GRCm39) |
V173A |
probably benign |
Het |
Septin12 |
C |
T |
16: 4,810,070 (GRCm39) |
R155H |
probably damaging |
Het |
Slco6d1 |
G |
T |
1: 98,371,385 (GRCm39) |
R290L |
probably benign |
Het |
Snx32 |
A |
G |
19: 5,546,157 (GRCm39) |
V335A |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,260 (GRCm39) |
V1669A |
possibly damaging |
Het |
Speer1f |
A |
T |
5: 11,469,052 (GRCm39) |
R68* |
probably null |
Het |
Tbata |
C |
T |
10: 61,015,063 (GRCm39) |
T116I |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,831,021 (GRCm39) |
S279T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,471,072 (GRCm39) |
Y515* |
probably null |
Het |
Tmem102 |
T |
G |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
Tmem169 |
A |
G |
1: 72,340,155 (GRCm39) |
N195S |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,802,537 (GRCm39) |
S613T |
probably damaging |
Het |
Tnfaip6 |
A |
T |
2: 51,942,344 (GRCm39) |
I218F |
possibly damaging |
Het |
Tube1 |
C |
A |
10: 39,023,347 (GRCm39) |
H331Q |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,732,714 (GRCm39) |
T998I |
possibly damaging |
Het |
Xpc |
A |
T |
6: 91,475,104 (GRCm39) |
Y638* |
probably null |
Het |
Zdhhc4 |
A |
T |
5: 143,310,017 (GRCm39) |
Y80* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATGGTCTCAGGAACGCC -3'
(R):5'- AGAGAGGGTCTGTCTGAGATTC -3'
Sequencing Primer
(F):5'- ATGGTCTCAGGAACGCCATCTTG -3'
(R):5'- AGGGCACTGTGACTCTAGG -3'
|
Posted On |
2014-10-01 |