Incidental Mutation 'R4648:Atp8b3'
| ID |
350501 |
| 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 |
041909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4648 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80361457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 822
(S822P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
| AlphaFold |
Q6UQ17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020383
AA Change: S822P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: S822P
| 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: ENSMUST00000220326
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700031F05Rik |
G |
T |
X: 101,904,515 (GRCm39) |
N132K |
possibly damaging |
Het |
| 2010315B03Rik |
T |
A |
9: 124,056,228 (GRCm39) |
Y232F |
probably benign |
Het |
| 2310079G19Rik |
T |
C |
16: 88,424,255 (GRCm39) |
S79G |
probably benign |
Het |
| 4930568D16Rik |
T |
A |
2: 35,244,458 (GRCm39) |
Y298F |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,953 (GRCm39) |
F352L |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,539,580 (GRCm39) |
Y93F |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,325,170 (GRCm39) |
*129W |
probably null |
Het |
| Atp5pf |
T |
C |
16: 84,625,343 (GRCm39) |
M87V |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,807,507 (GRCm39) |
V429E |
probably damaging |
Het |
| Bccip |
C |
T |
7: 133,316,628 (GRCm39) |
L83F |
probably damaging |
Het |
| Brd9 |
G |
A |
13: 74,088,895 (GRCm39) |
V198I |
probably benign |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,349 (GRCm39) |
S216T |
probably benign |
Het |
| Calhm1 |
A |
G |
19: 47,132,240 (GRCm39) |
L125P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,705 (GRCm39) |
Q532L |
possibly damaging |
Het |
| Cdh19 |
G |
A |
1: 110,852,907 (GRCm39) |
L343F |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,778,344 (GRCm39) |
S1653P |
possibly damaging |
Het |
| Cmtm4 |
A |
G |
8: 105,082,952 (GRCm39) |
I135T |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| Crp |
A |
G |
1: 172,525,704 (GRCm39) |
M1V |
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,048,788 (GRCm39) |
Q2305* |
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,449,132 (GRCm39) |
I74F |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcaf1 |
A |
T |
9: 106,742,876 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
C |
G |
17: 36,196,527 (GRCm39) |
A565G |
probably benign |
Het |
| Dock7 |
C |
A |
4: 98,857,881 (GRCm39) |
E1448* |
probably null |
Het |
| Dpf2 |
C |
T |
19: 5,957,109 (GRCm39) |
R38H |
probably damaging |
Het |
| E030030I06Rik |
T |
A |
10: 22,024,744 (GRCm39) |
R56S |
unknown |
Het |
| Etnk1 |
A |
G |
6: 143,141,000 (GRCm39) |
Y248C |
probably damaging |
Het |
| Ext1 |
A |
G |
15: 52,953,383 (GRCm39) |
S494P |
possibly damaging |
Het |
| Gk2 |
T |
C |
5: 97,603,579 (GRCm39) |
S420G |
probably benign |
Het |
| Gm26596 |
T |
C |
10: 112,765,064 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
G |
T |
15: 101,536,543 (GRCm39) |
N27K |
possibly damaging |
Het |
| Gskip |
A |
G |
12: 105,664,988 (GRCm39) |
D9G |
probably benign |
Het |
| H2-K2 |
T |
A |
17: 34,194,989 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
G |
10: 62,140,558 (GRCm39) |
S105R |
probably benign |
Het |
| Hmg20b |
T |
A |
10: 81,184,416 (GRCm39) |
Q129L |
probably damaging |
Het |
| Idnk |
A |
G |
13: 58,310,683 (GRCm39) |
D67G |
probably benign |
Het |
| Igfbp5 |
G |
T |
1: 72,903,222 (GRCm39) |
H118N |
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,947,580 (GRCm39) |
Y427F |
probably benign |
Het |
| Khdc3 |
A |
G |
9: 73,009,868 (GRCm39) |
E26G |
possibly damaging |
Het |
| Kif7 |
T |
C |
7: 79,358,939 (GRCm39) |
D512G |
probably damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,665 (GRCm39) |
I513N |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,760,860 (GRCm39) |
L174P |
probably damaging |
Het |
| Lnx1 |
C |
T |
5: 74,771,457 (GRCm39) |
V350I |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,850 (GRCm39) |
D812G |
probably benign |
Het |
| Mast2 |
G |
T |
4: 116,172,036 (GRCm39) |
Y637* |
probably null |
Het |
| Matn2 |
T |
C |
15: 34,428,679 (GRCm39) |
I681T |
probably damaging |
Het |
| Med18 |
A |
T |
4: 132,190,274 (GRCm39) |
V37D |
possibly damaging |
Het |
| Mip |
T |
A |
10: 128,062,922 (GRCm39) |
H122Q |
probably benign |
Het |
| Mmp13 |
A |
T |
9: 7,274,233 (GRCm39) |
D180V |
probably damaging |
Het |
| Mpg |
C |
A |
11: 32,180,034 (GRCm39) |
C187* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,237,567 (GRCm39) |
E256G |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,100,178 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
G |
T |
4: 129,115,733 (GRCm39) |
T977K |
probably benign |
Het |
| Nmt1 |
T |
A |
11: 102,954,743 (GRCm39) |
V425D |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,110,351 (GRCm39) |
Y1819* |
probably null |
Het |
| Or10ak16 |
A |
G |
4: 118,751,147 (GRCm39) |
N289S |
possibly damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,556 (GRCm39) |
F249I |
probably damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,565 (GRCm39) |
V227A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,540,914 (GRCm39) |
E875G |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,256,069 (GRCm39) |
R102* |
probably null |
Het |
| Phc1 |
T |
C |
6: 122,298,872 (GRCm39) |
I699V |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,634,638 (GRCm39) |
D3594E |
probably benign |
Het |
| Pstpip1 |
A |
T |
9: 56,032,502 (GRCm39) |
D246V |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,439,536 (GRCm39) |
C9* |
probably null |
Het |
| Setd1b |
C |
T |
5: 123,286,175 (GRCm39) |
A407V |
unknown |
Het |
| Slc26a4 |
T |
G |
12: 31,590,525 (GRCm39) |
D376A |
possibly damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,044,073 (GRCm39) |
E215G |
probably benign |
Het |
| Spag16 |
G |
A |
1: 69,866,194 (GRCm39) |
R11Q |
probably null |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,043,251 (GRCm39) |
C746R |
probably benign |
Het |
| Tdh |
A |
G |
14: 63,731,205 (GRCm39) |
L323P |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,843 (GRCm39) |
M197K |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,973,612 (GRCm39) |
M252V |
probably benign |
Het |
| Trdn |
G |
T |
10: 33,071,977 (GRCm39) |
E215* |
probably null |
Het |
| Trem1 |
G |
A |
17: 48,551,590 (GRCm39) |
V84I |
probably benign |
Het |
| Tspan5 |
T |
C |
3: 138,604,076 (GRCm39) |
F154L |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,825,044 (GRCm39) |
R647G |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,953 (GRCm39) |
I120F |
probably damaging |
Het |
| Vil1 |
T |
C |
1: 74,471,457 (GRCm39) |
M746T |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,410,407 (GRCm39) |
M665K |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
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 |
|
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'- CACAGCATCTTGTCAGCCATC -3'
(R):5'- TCCAGAATGCAGTGGTGGATG -3'
Sequencing Primer
(F):5'- ATCTTGTCAGCCATCGGGAC -3'
(R):5'- TGGATGAGGTCGCCCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation