Incidental Mutation 'R8354:Atp8b3'
ID |
645699 |
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 |
067806-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R8354 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80361633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 763
(V763A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
AlphaFold |
Q6UQ17 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020383
AA Change: V763A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: V763A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,635,103 (GRCm39) |
G300V |
possibly damaging |
Het |
Adgrg7 |
C |
G |
16: 56,616,045 (GRCm39) |
|
probably benign |
Het |
Agt |
G |
A |
8: 125,290,842 (GRCm39) |
T155M |
probably benign |
Het |
Btn1a1 |
C |
A |
13: 23,648,420 (GRCm39) |
V138L |
probably benign |
Het |
Cd163 |
A |
T |
6: 124,305,924 (GRCm39) |
N1109I |
probably benign |
Het |
Cideb |
T |
A |
14: 55,992,598 (GRCm39) |
Q106L |
possibly damaging |
Het |
Cntn1 |
A |
G |
15: 92,130,130 (GRCm39) |
T126A |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,982 (GRCm39) |
K70E |
probably damaging |
Het |
Elfn1 |
T |
C |
5: 139,957,226 (GRCm39) |
Y77H |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,912,358 (GRCm39) |
H386R |
probably damaging |
Het |
Fbxo21 |
A |
G |
5: 118,133,479 (GRCm39) |
D413G |
probably damaging |
Het |
Fzd1 |
T |
C |
5: 4,807,336 (GRCm39) |
Q82R |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,394 (GRCm39) |
L29P |
probably benign |
Het |
Glb1l2 |
C |
A |
9: 26,717,713 (GRCm39) |
|
probably benign |
Het |
Gm1110 |
C |
G |
9: 26,794,576 (GRCm39) |
Q483H |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,794,577 (GRCm39) |
Q483L |
probably benign |
Het |
Gpc6 |
T |
C |
14: 117,163,391 (GRCm39) |
L15P |
probably damaging |
Het |
Hagh |
C |
A |
17: 25,076,536 (GRCm39) |
S161* |
probably null |
Het |
Hrh1 |
A |
G |
6: 114,457,814 (GRCm39) |
D365G |
probably benign |
Het |
Ighv1-36 |
A |
T |
12: 114,843,560 (GRCm39) |
M100K |
probably damaging |
Het |
Itgb8 |
A |
T |
12: 119,134,513 (GRCm39) |
V518D |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,450,238 (GRCm39) |
Y486C |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
Met |
A |
G |
6: 17,491,768 (GRCm39) |
S177G |
probably damaging |
Het |
Myl9 |
T |
A |
2: 156,623,048 (GRCm39) |
I162N |
possibly damaging |
Het |
Npat |
T |
A |
9: 53,478,251 (GRCm39) |
N973K |
possibly damaging |
Het |
Or5p68 |
A |
T |
7: 107,945,889 (GRCm39) |
C100S |
probably damaging |
Het |
Pcdhga12 |
A |
T |
18: 37,901,190 (GRCm39) |
D674V |
possibly damaging |
Het |
Phtf1 |
T |
A |
3: 103,911,765 (GRCm39) |
N702K |
probably damaging |
Het |
Plaa |
A |
T |
4: 94,457,714 (GRCm39) |
I752N |
probably damaging |
Het |
Pnpla2 |
T |
C |
7: 141,038,011 (GRCm39) |
C194R |
probably damaging |
Het |
Rnaseh2a |
T |
C |
8: 85,691,776 (GRCm39) |
N133S |
probably benign |
Het |
Rps6ka1 |
T |
A |
4: 133,575,864 (GRCm39) |
Q685L |
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,715,142 (GRCm39) |
G4661C |
unknown |
Het |
Samd13 |
T |
A |
3: 146,352,157 (GRCm39) |
M65L |
probably benign |
Het |
Sdr42e2 |
T |
A |
7: 120,430,403 (GRCm39) |
V420E |
possibly damaging |
Het |
Sec22c |
A |
G |
9: 121,524,721 (GRCm39) |
S21P |
probably damaging |
Het |
Sh3d19 |
C |
A |
3: 86,014,329 (GRCm39) |
T431K |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,468,108 (GRCm39) |
M277V |
probably benign |
Het |
Sis |
T |
C |
3: 72,854,834 (GRCm39) |
T468A |
possibly damaging |
Het |
Slitrk3 |
T |
C |
3: 72,956,513 (GRCm39) |
N753S |
probably benign |
Het |
Slitrk6 |
C |
A |
14: 110,989,478 (GRCm39) |
L76F |
probably damaging |
Het |
Stk3 |
C |
T |
15: 34,876,870 (GRCm39) |
A478T |
probably damaging |
Het |
Styxl2 |
A |
T |
1: 165,935,702 (GRCm39) |
N165K |
probably damaging |
Het |
Sugp1 |
C |
A |
8: 70,524,247 (GRCm39) |
Y617* |
probably null |
Het |
Tinag |
T |
C |
9: 76,938,977 (GRCm39) |
D167G |
probably damaging |
Het |
Tk2 |
A |
G |
8: 104,967,746 (GRCm39) |
|
probably null |
Het |
Tmem209 |
A |
T |
6: 30,489,308 (GRCm39) |
V514D |
probably damaging |
Het |
Tmprss9 |
A |
G |
10: 80,723,320 (GRCm39) |
H260R |
probably benign |
Het |
Tnfrsf14 |
T |
A |
4: 155,011,112 (GRCm39) |
Y83F |
possibly damaging |
Het |
Tnfrsf8 |
A |
T |
4: 145,014,553 (GRCm39) |
D285E |
probably benign |
Het |
Togaram2 |
C |
G |
17: 72,004,873 (GRCm39) |
A310G |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,182,448 (GRCm39) |
Y544C |
probably damaging |
Het |
Ttl |
T |
A |
2: 128,908,104 (GRCm39) |
V13D |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,908,694 (GRCm39) |
D602E |
probably benign |
Het |
Vamp5 |
A |
G |
6: 72,347,376 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,402 (GRCm39) |
H838L |
possibly damaging |
Het |
Vps35l |
T |
A |
7: 118,391,795 (GRCm39) |
F493Y |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,461 (GRCm39) |
Y392N |
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 |
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'- TTTGGAGGCCAGGTCTACAAAG -3'
(R):5'- CAACATGGCCTTGGTTATCAATGG -3'
Sequencing Primer
(F):5'- GGTCTACAAAGGCCCTCTCC -3'
(R):5'- GCCTTGGTTATCAATGGAGAATTC -3'
|
Posted On |
2020-09-02 |