Incidental Mutation 'R5778:Atp8b3'
ID |
446832 |
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 |
043376-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5778 (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 80356007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 1235
(F1235S)
|
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: F1235S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: F1235S
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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 |
Acta1 |
A |
G |
8: 124,618,864 (GRCm39) |
S340P |
probably benign |
Het |
Anpep |
T |
C |
7: 79,486,139 (GRCm39) |
T528A |
probably benign |
Het |
Apob |
T |
A |
12: 8,065,074 (GRCm39) |
D4014E |
probably benign |
Het |
Atp23 |
A |
G |
10: 126,735,451 (GRCm39) |
C78R |
probably damaging |
Het |
B3gnt3 |
T |
C |
8: 72,145,582 (GRCm39) |
D262G |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,012,863 (GRCm39) |
I1848F |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,416,127 (GRCm39) |
A669V |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,770,820 (GRCm39) |
S391R |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,326 (GRCm39) |
R43Q |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,917,156 (GRCm39) |
N272K |
probably damaging |
Het |
Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
Dsg1b |
A |
T |
18: 20,542,279 (GRCm39) |
T929S |
possibly damaging |
Het |
Dusp16 |
G |
T |
6: 134,695,277 (GRCm39) |
T518N |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,743,261 (GRCm39) |
H158Q |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,867,450 (GRCm39) |
D954G |
unknown |
Het |
Erg28 |
T |
C |
12: 85,866,254 (GRCm39) |
T75A |
possibly damaging |
Het |
Fam135b |
T |
A |
15: 71,350,881 (GRCm39) |
T332S |
probably damaging |
Het |
Fam221b |
A |
G |
4: 43,660,683 (GRCm39) |
F357L |
probably damaging |
Het |
Fcgr2b |
C |
T |
1: 170,790,957 (GRCm39) |
G279R |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,230,121 (GRCm39) |
L1679M |
probably damaging |
Het |
Galm |
T |
A |
17: 80,435,146 (GRCm39) |
M1K |
probably null |
Het |
Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
Hif3a |
A |
T |
7: 16,785,909 (GRCm39) |
I129N |
probably damaging |
Het |
Ighv1-11 |
A |
T |
12: 114,576,051 (GRCm39) |
W55R |
probably damaging |
Het |
Ighv1-20 |
C |
A |
12: 114,687,497 (GRCm39) |
K82N |
probably benign |
Het |
Igsf21 |
C |
T |
4: 139,764,832 (GRCm39) |
E148K |
probably benign |
Het |
Il22b |
C |
A |
10: 118,130,768 (GRCm39) |
E43* |
probably null |
Het |
Klhdc7b |
A |
T |
15: 89,271,523 (GRCm39) |
R802W |
probably damaging |
Het |
Krt8 |
T |
C |
15: 101,912,374 (GRCm39) |
I101V |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,876,380 (GRCm39) |
L570P |
probably damaging |
Het |
Map4k1 |
C |
G |
7: 28,693,646 (GRCm39) |
N412K |
probably benign |
Het |
Metrnl |
A |
T |
11: 121,605,564 (GRCm39) |
I118F |
possibly damaging |
Het |
Mmp12 |
T |
A |
9: 7,350,106 (GRCm39) |
D202E |
probably damaging |
Het |
Mpp2 |
A |
T |
11: 101,955,269 (GRCm39) |
S119T |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,688 (GRCm39) |
T1539A |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,206,154 (GRCm39) |
T715A |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,454,792 (GRCm39) |
N1963K |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,149,834 (GRCm39) |
Y340H |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
Or5d39 |
T |
A |
2: 87,979,961 (GRCm39) |
Y134F |
probably damaging |
Het |
Or7d10 |
G |
T |
9: 19,832,337 (GRCm39) |
M277I |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,008,197 (GRCm39) |
E122G |
probably damaging |
Het |
Pcmtd2 |
A |
C |
2: 181,496,991 (GRCm39) |
T323P |
probably benign |
Het |
Pign |
C |
A |
1: 105,519,447 (GRCm39) |
G492C |
probably damaging |
Het |
Plppr3 |
A |
G |
10: 79,702,337 (GRCm39) |
V245A |
possibly damaging |
Het |
Prl7a2 |
C |
T |
13: 27,844,983 (GRCm39) |
W134* |
probably null |
Het |
Prom1 |
A |
T |
5: 44,164,389 (GRCm39) |
N722K |
probably benign |
Het |
Rasal2 |
A |
T |
1: 156,988,860 (GRCm39) |
N663K |
probably damaging |
Het |
Rgl1 |
G |
T |
1: 152,428,172 (GRCm39) |
H315Q |
probably benign |
Het |
Smpdl3a |
C |
A |
10: 57,677,097 (GRCm39) |
A65E |
probably damaging |
Het |
Spdye4b |
G |
A |
5: 143,188,142 (GRCm39) |
D212N |
probably damaging |
Het |
Tafa3 |
T |
A |
3: 104,679,505 (GRCm39) |
K126N |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,529,691 (GRCm39) |
|
probably null |
Het |
Trio |
A |
G |
15: 27,856,250 (GRCm39) |
V706A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,033,805 (GRCm39) |
Q201L |
probably damaging |
Het |
Ubqln1 |
C |
T |
13: 58,331,131 (GRCm39) |
M365I |
probably benign |
Het |
Usp42 |
A |
T |
5: 143,705,331 (GRCm39) |
Y383N |
probably damaging |
Het |
Vmn1r189 |
A |
G |
13: 22,286,552 (GRCm39) |
I95T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,274 (GRCm39) |
S819R |
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 |
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'- ATGAGGAGTGGACATCCGTG -3'
(R):5'- AGGGCTACGCAAACCTCATC -3'
Sequencing Primer
(F):5'- CCAGAGTGTACTGTGAAGCCAC -3'
(R):5'- GCAAACCTCATCACCCAGGG -3'
|
Posted On |
2016-12-15 |