Incidental Mutation 'R1717:Atp8b3'
ID |
191137 |
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 |
039750-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R1717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80364631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 521
(R521W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
AlphaFold |
Q6UQ17 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020383
AA Change: R521W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020383 Gene: ENSMUSG00000003341 AA Change: R521W
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 damaging
Transcript: ENSMUST00000220326
AA Change: R521W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (81/83) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
10: 95,629,641 (GRCm39) |
|
probably null |
Het |
4930583I09Rik |
T |
C |
17: 65,141,444 (GRCm39) |
N53S |
unknown |
Het |
4933434E20Rik |
T |
A |
3: 89,963,544 (GRCm39) |
S67T |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,765,239 (GRCm39) |
I1127V |
possibly damaging |
Het |
Abcg3 |
G |
A |
5: 105,111,421 (GRCm39) |
Q349* |
probably null |
Het |
Adam2 |
A |
G |
14: 66,306,007 (GRCm39) |
L158P |
probably damaging |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap11 |
C |
A |
14: 78,750,788 (GRCm39) |
S533I |
probably benign |
Het |
Aldh1a2 |
A |
T |
9: 71,200,953 (GRCm39) |
N517I |
probably damaging |
Het |
Aldh4a1 |
A |
T |
4: 139,365,840 (GRCm39) |
H277L |
possibly damaging |
Het |
Aldh4a1 |
G |
A |
4: 139,361,305 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,712 (GRCm39) |
|
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,989,121 (GRCm39) |
D616G |
probably damaging |
Het |
Arvcf |
A |
G |
16: 18,220,319 (GRCm39) |
K568E |
possibly damaging |
Het |
Casp16 |
A |
G |
17: 23,771,024 (GRCm39) |
I127T |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,306,547 (GRCm39) |
|
probably benign |
Het |
Cdh8 |
A |
T |
8: 99,757,337 (GRCm39) |
S754T |
probably damaging |
Het |
Cel |
A |
G |
2: 28,446,789 (GRCm39) |
Y461H |
probably damaging |
Het |
Chmp4b |
A |
G |
2: 154,499,240 (GRCm39) |
I47V |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,839,218 (GRCm39) |
M989V |
unknown |
Het |
Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 17,266,708 (GRCm39) |
S73T |
possibly damaging |
Het |
Csnk2a2 |
T |
C |
8: 96,182,436 (GRCm39) |
|
probably null |
Het |
Dact2 |
A |
T |
17: 14,418,175 (GRCm39) |
W177R |
probably benign |
Het |
Ddx10 |
A |
G |
9: 53,071,253 (GRCm39) |
V680A |
probably benign |
Het |
Eif5 |
T |
A |
12: 111,508,651 (GRCm39) |
D215E |
probably benign |
Het |
Evpl |
C |
T |
11: 116,116,318 (GRCm39) |
A817T |
probably benign |
Het |
Fmo6 |
T |
A |
1: 162,753,821 (GRCm39) |
R131* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,184,857 (GRCm39) |
T680A |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,805,289 (GRCm39) |
V536A |
possibly damaging |
Het |
Fzd8 |
T |
C |
18: 9,214,364 (GRCm39) |
F482S |
probably damaging |
Het |
Gabrb1 |
A |
T |
5: 72,265,694 (GRCm39) |
|
probably null |
Het |
Galnt9 |
T |
G |
5: 110,744,078 (GRCm39) |
I304S |
probably benign |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm5334 |
A |
C |
7: 68,268,725 (GRCm39) |
|
noncoding transcript |
Het |
Grcc10 |
A |
T |
6: 124,717,476 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,734,937 (GRCm39) |
T192A |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Irgm2 |
T |
A |
11: 58,111,461 (GRCm39) |
L396Q |
probably damaging |
Het |
Ksr2 |
T |
A |
5: 117,809,514 (GRCm39) |
C426S |
probably damaging |
Het |
Lair1 |
A |
G |
7: 4,013,788 (GRCm39) |
F153S |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,138 (GRCm39) |
H2835R |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,534 (GRCm39) |
T2325A |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,900,580 (GRCm39) |
F295S |
probably damaging |
Het |
Meis1 |
T |
A |
11: 18,960,608 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,484,579 (GRCm39) |
I156K |
probably benign |
Het |
Mmd2 |
T |
C |
5: 142,561,105 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
G |
16: 48,272,840 (GRCm39) |
I156V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,753,405 (GRCm38) |
T1094A |
possibly damaging |
Het |
Nckap1 |
A |
G |
2: 80,343,014 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
Or12e1 |
A |
T |
2: 87,022,247 (GRCm39) |
N72I |
probably benign |
Het |
Or2t49 |
T |
A |
11: 58,392,885 (GRCm39) |
M166L |
probably benign |
Het |
Or4e2 |
T |
C |
14: 52,688,296 (GRCm39) |
V142A |
probably benign |
Het |
Or5as1 |
A |
T |
2: 86,980,150 (GRCm39) |
L285* |
probably null |
Het |
Or8d1b |
C |
T |
9: 38,887,706 (GRCm39) |
L245F |
probably damaging |
Het |
Pcdha1 |
T |
C |
18: 37,065,237 (GRCm39) |
S634P |
probably benign |
Het |
Pcdhb12 |
T |
A |
18: 37,569,841 (GRCm39) |
V329E |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,312,793 (GRCm39) |
D193E |
probably benign |
Het |
Pcsk1 |
G |
C |
13: 75,258,947 (GRCm39) |
M240I |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,208,892 (GRCm39) |
I125N |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,082,729 (GRCm39) |
G564S |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Riok1 |
T |
A |
13: 38,236,926 (GRCm39) |
I389N |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,160,135 (GRCm39) |
S50R |
probably benign |
Het |
Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,915,876 (GRCm39) |
H1329Y |
possibly damaging |
Het |
Siglec1 |
T |
C |
2: 130,925,932 (GRCm39) |
N258S |
probably damaging |
Het |
Slbp |
G |
A |
5: 33,802,946 (GRCm39) |
A126V |
probably benign |
Het |
Slc12a4 |
A |
T |
8: 106,674,203 (GRCm39) |
|
probably null |
Het |
Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
Synpo2 |
C |
A |
3: 122,906,203 (GRCm39) |
V1038F |
probably damaging |
Het |
Tbk1 |
G |
A |
10: 121,397,550 (GRCm39) |
T374I |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem190 |
T |
C |
7: 4,787,132 (GRCm39) |
L112P |
probably damaging |
Het |
Tsc2 |
C |
T |
17: 24,816,042 (GRCm39) |
R1715Q |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r46 |
T |
C |
6: 89,953,811 (GRCm39) |
L220P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,392,609 (GRCm39) |
Q816R |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,468,164 (GRCm39) |
I2799T |
probably benign |
Het |
Zfp105 |
T |
C |
9: 122,759,696 (GRCm39) |
S456P |
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 |
|
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 |
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'- TTGTGTGATGAACAGCCCTGCC -3'
(R):5'- AGTTAGGATCAGACCTGTGACCCC -3'
Sequencing Primer
(F):5'- ATGACACCCTTACTGCGGAG -3'
(R):5'- ACCTGTGACCCCGCTAAG -3'
|
Posted On |
2014-05-14 |