Incidental Mutation 'R7051:Atp8b3'
ID |
547603 |
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 |
045148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7051 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 80355858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 1285
(E1285K)
|
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: E1285K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: E1285K
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
95% (80/84) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
C |
T |
8: 33,919,201 (GRCm39) |
S7L |
unknown |
Het |
Aggf1 |
T |
C |
13: 95,488,125 (GRCm39) |
K674R |
possibly damaging |
Het |
Ampd1 |
T |
C |
3: 102,997,389 (GRCm39) |
F264L |
probably damaging |
Het |
Ankle1 |
A |
T |
8: 71,860,387 (GRCm39) |
S302C |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,514,310 (GRCm39) |
|
probably benign |
Het |
Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
Atp5pb |
T |
C |
3: 105,851,083 (GRCm39) |
N205D |
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,356,544 (GRCm39) |
R1929Q |
possibly damaging |
Het |
Cadm2 |
C |
T |
16: 66,679,767 (GRCm39) |
S22N |
possibly damaging |
Het |
Ccdc177 |
C |
T |
12: 80,805,927 (GRCm39) |
V116M |
probably damaging |
Het |
Cdhr18 |
A |
G |
14: 13,828,486 (GRCm38) |
V758A |
|
Het |
Cdkl2 |
A |
T |
5: 92,181,084 (GRCm39) |
I185N |
probably damaging |
Het |
Cfhr2 |
T |
A |
1: 139,738,716 (GRCm39) |
I282L |
probably benign |
Het |
Clns1a |
T |
A |
7: 97,361,824 (GRCm39) |
|
probably null |
Het |
Commd2 |
A |
T |
3: 57,554,107 (GRCm39) |
I198N |
probably damaging |
Het |
Creb3l2 |
C |
T |
6: 37,313,200 (GRCm39) |
V365I |
possibly damaging |
Het |
Dcaf6 |
A |
T |
1: 165,251,886 (GRCm39) |
N79K |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,196,263 (GRCm39) |
N1622D |
possibly damaging |
Het |
Dock7 |
C |
T |
4: 98,834,969 (GRCm39) |
R1802H |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,495,789 (GRCm39) |
K643R |
probably benign |
Het |
Dscam |
G |
A |
16: 96,620,986 (GRCm39) |
T574M |
probably benign |
Het |
Fam209 |
A |
G |
2: 172,315,969 (GRCm39) |
T115A |
probably damaging |
Het |
Fastkd5 |
C |
T |
2: 130,456,337 (GRCm39) |
C751Y |
probably damaging |
Het |
Fat3 |
C |
A |
9: 16,289,123 (GRCm39) |
L133F |
probably damaging |
Het |
Fcsk |
A |
T |
8: 111,616,971 (GRCm39) |
I393N |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,944,170 (GRCm39) |
V516A |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,318,634 (GRCm39) |
D955N |
possibly damaging |
Het |
Gm7298 |
T |
C |
6: 121,751,993 (GRCm39) |
|
probably null |
Het |
Golga7b |
T |
A |
19: 42,256,899 (GRCm39) |
*168R |
probably null |
Het |
Golim4 |
T |
A |
3: 75,800,309 (GRCm39) |
Q395L |
probably benign |
Het |
Gxylt2 |
T |
A |
6: 100,781,537 (GRCm39) |
L404* |
probably null |
Het |
H1f4 |
A |
G |
13: 23,806,422 (GRCm39) |
V20A |
probably benign |
Het |
Ighmbp2 |
G |
T |
19: 3,311,462 (GRCm39) |
S984R |
probably damaging |
Het |
Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,148,470 (GRCm39) |
V788A |
possibly damaging |
Het |
Kifap3 |
G |
A |
1: 163,621,649 (GRCm39) |
R99H |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,688 (GRCm39) |
S61P |
probably damaging |
Het |
Krtap6-1 |
A |
T |
16: 88,828,606 (GRCm39) |
M1L |
unknown |
Het |
Large2 |
A |
T |
2: 92,197,367 (GRCm39) |
M411K |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,574,191 (GRCm39) |
D982G |
probably benign |
Het |
Lingo1 |
A |
G |
9: 56,527,467 (GRCm39) |
V374A |
probably benign |
Het |
Lrch1 |
A |
G |
14: 75,022,962 (GRCm39) |
V637A |
probably damaging |
Het |
Lyar |
T |
C |
5: 38,382,024 (GRCm39) |
V2A |
probably damaging |
Het |
Nell1 |
C |
T |
7: 50,098,592 (GRCm39) |
S298L |
unknown |
Het |
Ogfod3 |
T |
A |
11: 121,086,031 (GRCm39) |
I188F |
probably damaging |
Het |
Opa3 |
C |
A |
7: 18,978,961 (GRCm39) |
A142E |
possibly damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,769 (GRCm39) |
M81K |
possibly damaging |
Het |
Or5k1 |
T |
C |
16: 58,617,538 (GRCm39) |
T224A |
probably benign |
Het |
Pald1 |
T |
C |
10: 61,159,125 (GRCm39) |
R769G |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,784,753 (GRCm39) |
T86S |
unknown |
Het |
Papss1 |
T |
C |
3: 131,307,811 (GRCm39) |
Y266H |
probably damaging |
Het |
Pcdhga7 |
C |
A |
18: 37,849,994 (GRCm39) |
A667D |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,411,095 (GRCm39) |
T1766S |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,717,747 (GRCm39) |
N1129K |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,499,952 (GRCm39) |
N127S |
probably damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,316,925 (GRCm39) |
E300G |
probably damaging |
Het |
Ppp4r3b |
A |
G |
11: 29,132,507 (GRCm39) |
K87E |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,573,659 (GRCm39) |
M35K |
possibly damaging |
Het |
Pus7 |
A |
G |
5: 23,980,677 (GRCm39) |
V191A |
probably damaging |
Het |
Rptor |
C |
T |
11: 119,765,012 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,446,377 (GRCm39) |
M2808V |
probably benign |
Het |
Scube3 |
G |
A |
17: 28,386,573 (GRCm39) |
V831I |
probably benign |
Het |
Sin3a |
A |
T |
9: 57,011,218 (GRCm39) |
N492Y |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,092,572 (GRCm39) |
T998A |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,247,084 (GRCm39) |
N501S |
probably benign |
Het |
Sltm |
G |
A |
9: 70,466,348 (GRCm39) |
G94R |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,934,835 (GRCm39) |
W650R |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,279 (GRCm39) |
N391D |
probably damaging |
Het |
Tiam2 |
G |
A |
17: 3,498,758 (GRCm39) |
V845M |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,253,699 (GRCm39) |
F793L |
probably benign |
Het |
Uckl1 |
T |
C |
2: 181,216,037 (GRCm39) |
I193V |
probably damaging |
Het |
Ugt1a5 |
A |
G |
1: 88,094,077 (GRCm39) |
M102V |
probably benign |
Het |
Usp38 |
G |
A |
8: 81,727,750 (GRCm39) |
P328S |
possibly damaging |
Het |
Vmn1r189 |
A |
G |
13: 22,286,285 (GRCm39) |
V184A |
possibly damaging |
Het |
Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
Wdr47 |
T |
A |
3: 108,525,840 (GRCm39) |
L121Q |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,580,507 (GRCm39) |
S315P |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,568,597 (GRCm39) |
S1297P |
probably damaging |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
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'- TGGGCCTCTGGTCAACTTTG -3'
(R):5'- CCGAAGAAGACATTCCCTTGC -3'
Sequencing Primer
(F):5'- CAACTTTGCTTTCTGGGGAC -3'
(R):5'- CAGTATTTAATCCGCGGAAGATCTCC -3'
|
Posted On |
2019-05-13 |