Incidental Mutation 'R4619:Atp8b3'
| ID |
345182 |
| 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 |
041885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4619 (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 80361858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 731
(T731I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000220326]
|
| AlphaFold |
Q6UQ17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020383
AA Change: T731I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: T731I
| 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 |
possibly damaging
Transcript: ENSMUST00000220326
AA Change: T731I
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (74/74) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,775,520 (GRCm39) |
V1570I |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,473,106 (GRCm39) |
R35G |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,587,612 (GRCm39) |
D179N |
probably damaging |
Het |
| Cntnap5c |
G |
T |
17: 58,717,263 (GRCm39) |
V1282L |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,141,372 (GRCm39) |
R1175H |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,836 (GRCm39) |
D349G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,605,278 (GRCm39) |
I2372V |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,889,007 (GRCm39) |
W389R |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,984,036 (GRCm39) |
T1297A |
unknown |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| Gm5591 |
G |
A |
7: 38,220,072 (GRCm39) |
S267L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,309,657 (GRCm39) |
V92A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,273,884 (GRCm39) |
R2680W |
probably damaging |
Het |
| Insyn2a |
A |
G |
7: 134,520,270 (GRCm39) |
Y87H |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kcnk7 |
A |
C |
19: 5,756,463 (GRCm39) |
I230L |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,594 (GRCm39) |
R132* |
probably null |
Het |
| Klra5 |
T |
C |
6: 129,885,776 (GRCm39) |
S128G |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,383,282 (GRCm39) |
R4* |
probably null |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,372,089 (GRCm39) |
D148G |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,140,865 (GRCm39) |
C566R |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,254 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
C |
T |
6: 126,804,498 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,071,959 (GRCm39) |
G583D |
probably damaging |
Het |
| Nucb2 |
T |
C |
7: 116,127,059 (GRCm39) |
|
probably null |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,301 (GRCm39) |
I145N |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,061,076 (GRCm39) |
D508E |
probably benign |
Het |
| Phb1 |
T |
A |
11: 95,562,416 (GRCm39) |
|
probably benign |
Het |
| Pign |
T |
A |
1: 105,449,715 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,076,382 (GRCm39) |
K349E |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,743 (GRCm39) |
V9E |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,443,422 (GRCm39) |
V130D |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,183,549 (GRCm39) |
I137T |
possibly damaging |
Het |
| Slc46a3 |
T |
A |
5: 147,823,540 (GRCm39) |
K101* |
probably null |
Het |
| Snph |
G |
A |
2: 151,436,434 (GRCm39) |
Q96* |
probably null |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
| Ssc5d |
A |
T |
7: 4,932,524 (GRCm39) |
H396L |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,856,876 (GRCm39) |
R42S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,181,752 (GRCm39) |
|
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,218 (GRCm39) |
M609K |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,568,617 (GRCm39) |
I1588F |
probably damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,020,247 (GRCm39) |
V402I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
| Trbv31 |
T |
C |
6: 41,534,901 (GRCm39) |
I21V |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,398 (GRCm39) |
T233S |
possibly damaging |
Het |
| Vmn1r74 |
G |
C |
7: 11,581,403 (GRCm39) |
Q234H |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,529 (GRCm39) |
S118T |
probably benign |
Het |
| Wnt9b |
G |
A |
11: 103,621,949 (GRCm39) |
T236I |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zc3hc1 |
G |
A |
6: 30,387,523 (GRCm39) |
T52I |
probably benign |
Het |
| Zfp558 |
T |
A |
9: 18,367,577 (GRCm39) |
N404Y |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,031 (GRCm39) |
D325V |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,879 (GRCm39) |
M96K |
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 |
|
|
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'- ACTGCATTCTGGACTAGGGCTC -3'
(R):5'- CAGCTGCTGTCGGAGAATATG -3'
Sequencing Primer
(F):5'- CTTGCGCAAGGACAGGAG -3'
(R):5'- GCTGCTGTCGGAGAATATGATAATTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation