Incidental Mutation 'R6748:Atp8b3'
ID |
530651 |
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 |
044865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6748 (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 T
at 80361058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 926
(M926K)
|
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: M926K
PolyPhen 2
Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: M926K
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
AA Change: H839Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
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 |
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 |
|
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'- AATAGCCTCGCTTTATTGTTGCTG -3'
(R):5'- TGCGGACATTGGTGTAGGAC -3'
Sequencing Primer
(F):5'- AACACAAGGTCTCTCTGTGTAGC -3'
(R):5'- ACATTGGTGTAGGACTGGCAG -3'
|
Posted On |
2018-08-01 |