Incidental Mutation 'R8962:Atp8b3'
ID |
682408 |
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 |
068796-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R8962 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 80355896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 1272
(T1272K)
|
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: T1272K
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: T1272K
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
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
99% (86/87) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,220,173 (GRCm39) |
M120L |
probably benign |
Het |
Abat |
A |
G |
16: 8,396,166 (GRCm39) |
T48A |
probably damaging |
Het |
Abca8a |
A |
T |
11: 109,969,634 (GRCm39) |
I314N |
probably damaging |
Het |
Abr |
A |
T |
11: 76,352,155 (GRCm39) |
V108D |
probably damaging |
Het |
Adamts17 |
T |
G |
7: 66,725,057 (GRCm39) |
L162V |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,433,899 (GRCm39) |
K109N |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,241,595 (GRCm39) |
F68S |
probably damaging |
Het |
Aifm3 |
T |
C |
16: 17,324,200 (GRCm39) |
|
probably null |
Het |
Ankrd26 |
T |
C |
6: 118,512,104 (GRCm39) |
E506G |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,903,066 (GRCm39) |
L185P |
probably damaging |
Het |
Cars2 |
A |
G |
8: 11,587,304 (GRCm39) |
V193A |
probably benign |
Het |
Ccn5 |
C |
T |
2: 163,667,160 (GRCm39) |
R54* |
probably null |
Het |
Ccr8 |
A |
T |
9: 119,923,613 (GRCm39) |
I243F |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,538,901 (GRCm39) |
V2465A |
probably damaging |
Het |
Ctbp1 |
T |
C |
5: 33,416,616 (GRCm39) |
N127S |
probably benign |
Het |
Ddx10 |
A |
G |
9: 53,149,377 (GRCm39) |
S117P |
probably damaging |
Het |
Dgkb |
T |
C |
12: 38,189,494 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
A |
12: 117,916,273 (GRCm39) |
D3520V |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,918,630 (GRCm39) |
D1530N |
probably damaging |
Het |
Dock5 |
T |
C |
14: 67,994,640 (GRCm39) |
T1807A |
probably benign |
Het |
Drd3 |
C |
T |
16: 43,641,842 (GRCm39) |
T386I |
probably damaging |
Het |
Dsg1b |
A |
G |
18: 20,542,316 (GRCm39) |
N941S |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,696,513 (GRCm39) |
T141A |
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,356,566 (GRCm39) |
C360S |
possibly damaging |
Het |
Ethe1 |
T |
A |
7: 24,305,682 (GRCm39) |
V143D |
probably damaging |
Het |
Fam170b |
A |
G |
14: 32,557,336 (GRCm39) |
D57G |
probably benign |
Het |
Fam53c |
T |
C |
18: 34,901,229 (GRCm39) |
S49P |
probably damaging |
Het |
Fbp1 |
G |
A |
13: 63,023,067 (GRCm39) |
L77F |
probably benign |
Het |
Gm17093 |
A |
G |
14: 44,758,149 (GRCm39) |
E110G |
|
Het |
Gm21976 |
G |
T |
13: 98,423,821 (GRCm39) |
|
silent |
Het |
Golgb1 |
T |
C |
16: 36,733,978 (GRCm39) |
I1075T |
probably damaging |
Het |
Grip2 |
T |
C |
6: 91,754,391 (GRCm39) |
D628G |
probably damaging |
Het |
Gtpbp1 |
G |
T |
15: 79,601,929 (GRCm39) |
L557F |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,196,045 (GRCm39) |
H635R |
possibly damaging |
Het |
Itgb7 |
A |
G |
15: 102,127,037 (GRCm39) |
L466S |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,161,864 (GRCm39) |
D277G |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,901,248 (GRCm39) |
E2G |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,000,669 (GRCm39) |
Y68N |
probably damaging |
Het |
Marchf10 |
G |
T |
11: 105,280,815 (GRCm39) |
S490* |
probably null |
Het |
Mterf1b |
A |
T |
5: 4,246,437 (GRCm39) |
Y26F |
probably benign |
Het |
Myo18b |
T |
A |
5: 113,006,346 (GRCm39) |
I855F |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,675,915 (GRCm39) |
M83I |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
T |
C |
5: 118,017,405 (GRCm39) |
V256A |
probably benign |
Het |
Nr1h2 |
T |
C |
7: 44,201,463 (GRCm39) |
T50A |
probably benign |
Het |
Or14c42-ps1 |
T |
A |
7: 86,211,317 (GRCm39) |
*126K |
probably null |
Het |
Or4n4 |
A |
C |
14: 50,518,816 (GRCm39) |
M298R |
possibly damaging |
Het |
Ovol2 |
G |
C |
2: 144,147,834 (GRCm39) |
R172G |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,677,187 (GRCm39) |
I927T |
probably damaging |
Het |
Pcdhga7 |
T |
A |
18: 37,848,879 (GRCm39) |
H295Q |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,400,291 (GRCm39) |
T2145I |
probably damaging |
Het |
Plekhs1 |
C |
T |
19: 56,461,680 (GRCm39) |
T139I |
possibly damaging |
Het |
Rab11fip3 |
T |
A |
17: 26,231,007 (GRCm39) |
D746V |
probably damaging |
Het |
Rnf214 |
A |
C |
9: 45,809,728 (GRCm39) |
|
probably null |
Het |
Rtn4ip1 |
A |
T |
10: 43,822,415 (GRCm39) |
|
probably null |
Het |
S1pr1 |
T |
C |
3: 115,505,569 (GRCm39) |
R342G |
|
Het |
Serpina1f |
T |
C |
12: 103,656,131 (GRCm39) |
S366G |
probably benign |
Het |
Sestd1 |
A |
T |
2: 77,042,708 (GRCm39) |
M282K |
probably benign |
Het |
Siglecf |
T |
G |
7: 43,001,140 (GRCm39) |
V36G |
probably damaging |
Het |
Slc1a1 |
T |
C |
19: 28,886,869 (GRCm39) |
V410A |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,917,684 (GRCm39) |
D14Y |
probably benign |
Het |
Slk |
C |
T |
19: 47,610,748 (GRCm39) |
T806M |
probably damaging |
Het |
Slurp2 |
C |
A |
15: 74,615,249 (GRCm39) |
V48F |
possibly damaging |
Het |
Socs1 |
A |
G |
16: 10,602,642 (GRCm39) |
S32P |
possibly damaging |
Het |
Son |
T |
C |
16: 91,455,057 (GRCm39) |
V1268A |
possibly damaging |
Het |
Sp7 |
C |
A |
15: 102,274,880 (GRCm39) |
|
probably benign |
Het |
Speer4a2 |
T |
G |
5: 26,290,745 (GRCm39) |
E142A |
probably benign |
Het |
Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,804 (GRCm39) |
N210S |
probably benign |
Het |
Tkfc |
T |
C |
19: 10,570,700 (GRCm39) |
D492G |
probably damaging |
Het |
Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
Trmt9b |
A |
G |
8: 36,972,729 (GRCm39) |
K60E |
probably damaging |
Het |
Tshz2 |
C |
A |
2: 169,726,524 (GRCm39) |
F373L |
probably damaging |
Het |
Ttc29 |
T |
A |
8: 79,042,336 (GRCm39) |
L307Q |
probably damaging |
Het |
Tubd1 |
G |
A |
11: 86,439,659 (GRCm39) |
M1I |
probably null |
Het |
Vmn1r62 |
T |
A |
7: 5,678,601 (GRCm39) |
M94K |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,703,186 (GRCm39) |
I188T |
possibly damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,398,564 (GRCm39) |
D805G |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,463,576 (GRCm39) |
D419E |
probably damaging |
Het |
Vps39 |
A |
T |
2: 120,174,687 (GRCm39) |
Y98* |
probably null |
Het |
Zdbf2 |
G |
A |
1: 63,347,162 (GRCm39) |
G1847D |
probably benign |
Het |
Zdhhc6 |
T |
C |
19: 55,287,239 (GRCm39) |
E407G |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,577,057 (GRCm39) |
I1352T |
probably damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,786 (GRCm39) |
K619E |
possibly damaging |
Het |
Zfp811 |
A |
T |
17: 33,017,622 (GRCm39) |
N139K |
probably benign |
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 |
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'- TGGGCCTCTGGTCAACTTTG -3'
(R):5'- CCCGAAGAAGACATTCCCTTG -3'
Sequencing Primer
(F):5'- CAACTTTGCTTTCTGGGGAC -3'
(R):5'- TTCCCTTGCAAAACAAAGATTCAG -3'
|
Posted On |
2021-08-31 |