Incidental Mutation 'R9554:Atp8b3'
| ID |
720670 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R9554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80360197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 958
(T958M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
| AlphaFold |
Q6UQ17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020383
AA Change: T958M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: T958M
| 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: 99.6%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,107 (GRCm39) |
E817G |
probably benign |
Het |
| Abhd12b |
A |
G |
12: 70,215,988 (GRCm39) |
T182A |
probably benign |
Het |
| Allc |
A |
T |
12: 28,607,414 (GRCm39) |
C279* |
probably null |
Het |
| Ang |
A |
G |
14: 51,338,976 (GRCm39) |
D39G |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,784,900 (GRCm39) |
R191K |
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,750 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,668,169 (GRCm39) |
S321R |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,251,015 (GRCm39) |
W616R |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,657,165 (GRCm39) |
R361H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,201,691 (GRCm39) |
Q38R |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,507,560 (GRCm39) |
N785S |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,122,076 (GRCm39) |
N1133S |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,645,614 (GRCm39) |
Y877* |
probably null |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Fam120b |
G |
A |
17: 15,626,020 (GRCm39) |
A458T |
possibly damaging |
Het |
| Fgd4 |
G |
A |
16: 16,308,353 (GRCm39) |
T9I |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,038,915 (GRCm39) |
R108L |
probably damaging |
Het |
| Gfpt1 |
C |
T |
6: 87,062,323 (GRCm39) |
R561W |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,340 (GRCm39) |
D4G |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,882,470 (GRCm39) |
T108S |
probably damaging |
Het |
| Hivep1 |
G |
A |
13: 42,308,251 (GRCm39) |
D164N |
possibly damaging |
Het |
| Kif15 |
G |
T |
9: 122,828,585 (GRCm39) |
L902F |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,497 (GRCm39) |
R4481S |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,332,310 (GRCm39) |
V1209A |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,376,838 (GRCm39) |
R377H |
probably benign |
Het |
| Ms4a4a |
G |
A |
19: 11,367,708 (GRCm39) |
M191I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,018,580 (GRCm39) |
N1922I |
|
Het |
| Nbeal1 |
C |
T |
1: 60,290,287 (GRCm39) |
Q998* |
probably null |
Het |
| Neil3 |
C |
A |
8: 54,061,770 (GRCm39) |
G204C |
probably damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,066,994 (GRCm39) |
E262G |
possibly damaging |
Het |
| Oc90 |
G |
A |
15: 65,761,437 (GRCm39) |
P194S |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,193,787 (GRCm39) |
S57P |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,181 (GRCm39) |
F123L |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,223 (GRCm39) |
Y96* |
probably null |
Het |
| Or2aj4 |
T |
A |
16: 19,384,722 (GRCm39) |
I304F |
possibly damaging |
Het |
| Or4a73 |
C |
A |
2: 89,420,710 (GRCm39) |
V250F |
probably damaging |
Het |
| Or4d5 |
T |
A |
9: 40,012,160 (GRCm39) |
M209L |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,774 (GRCm39) |
I199N |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,994,365 (GRCm39) |
T13A |
probably benign |
Het |
| Or8g28 |
A |
C |
9: 39,169,756 (GRCm39) |
F71V |
possibly damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,333,574 (GRCm39) |
L149Q |
probably damaging |
Het |
| Pid1 |
A |
G |
1: 84,137,032 (GRCm39) |
V33A |
probably benign |
Het |
| Polr3gl |
A |
G |
3: 96,489,037 (GRCm39) |
V60A |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,317,242 (GRCm39) |
V527A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,671 (GRCm39) |
I385M |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,599 (GRCm39) |
S1338N |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,006 (GRCm39) |
T389A |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Slx4 |
C |
A |
16: 3,805,820 (GRCm39) |
M577I |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,577 (GRCm39) |
S2092P |
probably damaging |
Het |
| Traf6 |
T |
A |
2: 101,518,953 (GRCm39) |
H147Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,547,693 (GRCm39) |
E32159V |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,888,492 (GRCm39) |
S154P |
unknown |
Het |
| Uchl1 |
T |
A |
5: 66,833,649 (GRCm39) |
M6K |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,989 (GRCm39) |
M1K |
probably null |
Het |
| Zfp429 |
T |
A |
13: 67,538,531 (GRCm39) |
K304N |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,464 (GRCm39) |
S307T |
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 |
|
|
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 |
|
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'- AGGCTGGAGAGATCTGGTTC -3'
(R):5'- ATGGCATCAGGAGCTCTCTAAG -3'
Sequencing Primer
(F):5'- TTCTCAGAGTGGAGGACCC -3'
(R):5'- GTGATTCTAGAACACTTGAGAAACCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation