Incidental Mutation 'R8077:Atp8b3'
| ID |
629096 |
| 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 |
067511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80366858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 247
(L247F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000219648]
[ENSMUST00000220326]
|
| AlphaFold |
Q6UQ17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020383
AA Change: L247F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: L247F
| 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: ENSMUST00000219648
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220326
AA Change: L247F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,237 (GRCm39) |
V132E |
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,895,250 (GRCm39) |
V315M |
probably damaging |
Het |
| Aadacl4fm1 |
T |
C |
4: 144,255,126 (GRCm39) |
I182T |
probably benign |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Amotl1 |
A |
T |
9: 14,461,798 (GRCm39) |
V805D |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,107,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,735,968 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,705,530 (GRCm39) |
H671R |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
G |
T |
8: 46,623,482 (GRCm39) |
V291F |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,777,288 (GRCm39) |
V861A |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,950 (GRCm39) |
D88V |
probably damaging |
Het |
| Col18a1 |
C |
A |
10: 76,916,685 (GRCm39) |
G330V |
unknown |
Het |
| Dis3 |
C |
T |
14: 99,327,471 (GRCm39) |
R344Q |
probably benign |
Het |
| Esyt2 |
T |
A |
12: 116,305,848 (GRCm39) |
S359R |
possibly damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,450,211 (GRCm39) |
L844Q |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,651,761 (GRCm39) |
T1372M |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,213,500 (GRCm39) |
R472H |
probably benign |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gm9507 |
T |
A |
10: 77,647,604 (GRCm39) |
E25V |
unknown |
Het |
| Golgb1 |
A |
G |
16: 36,738,995 (GRCm39) |
I2486V |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,823,478 (GRCm39) |
Y595H |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,247,244 (GRCm39) |
V326I |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,399,186 (GRCm39) |
H449L |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc8b |
C |
A |
5: 105,627,883 (GRCm39) |
S76R |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,545,783 (GRCm39) |
L527P |
probably damaging |
Het |
| Luc7l |
T |
C |
17: 26,474,047 (GRCm39) |
V35A |
probably damaging |
Het |
| Luzp1 |
T |
G |
4: 136,270,402 (GRCm39) |
V875G |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,048,494 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,203 (GRCm39) |
S242T |
probably benign |
Het |
| Muc21 |
TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG |
TCAGTGGTGGTCAGG |
17: 35,930,628 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,340,734 (GRCm39) |
R1995S |
possibly damaging |
Het |
| Nup35 |
A |
G |
2: 80,469,280 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
C |
T |
7: 140,271,046 (GRCm39) |
S76F |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,312 (GRCm39) |
D157G |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,979,411 (GRCm39) |
|
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,532,316 (GRCm39) |
K109E |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,688,626 (GRCm39) |
L444Q |
probably damaging |
Het |
| Qtrt1 |
C |
T |
9: 21,331,392 (GRCm39) |
R374* |
probably null |
Het |
| Rnase11 |
T |
C |
14: 51,287,398 (GRCm39) |
D52G |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,774,158 (GRCm39) |
S148P |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,947,044 (GRCm39) |
K86E |
possibly damaging |
Het |
| Sh2d1b2 |
A |
G |
1: 170,075,742 (GRCm39) |
K59E |
possibly damaging |
Het |
| Six6 |
T |
A |
12: 72,987,100 (GRCm39) |
W91R |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,931,092 (GRCm39) |
A136S |
possibly damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,012 (GRCm39) |
R593H |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,630,804 (GRCm39) |
M1V |
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,051,647 (GRCm39) |
Y239C |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,501,345 (GRCm39) |
E405G |
probably damaging |
Het |
| Tle7 |
C |
T |
8: 110,836,735 (GRCm39) |
T207M |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,196 (GRCm39) |
I194V |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,395,667 (GRCm39) |
C1246S |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,575 (GRCm39) |
Q127L |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,275,025 (GRCm39) |
I1833V |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,093 (GRCm39) |
Y308N |
probably benign |
Het |
| Vti1a |
T |
G |
19: 55,564,917 (GRCm39) |
L191R |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,570,153 (GRCm39) |
N310K |
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 |
|
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 |
|
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'- TAGCCCATCTGACAGCACTCAG -3'
(R):5'- AGCTGAGAGACCATGTTGGG -3'
Sequencing Primer
(F):5'- TGACAGCACTCAGGGCCTATATC -3'
(R):5'- ACCATGTTGGGCCCAGTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation