Incidental Mutation 'R9129:Atp8b3'
| ID |
693484 |
| 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 # |
R9129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80355418-80374958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80368412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 187
(E187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020383]
[ENSMUST00000219648]
[ENSMUST00000220326]
|
| AlphaFold |
Q6UQ17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020383
AA Change: E187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: E187G
| 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: E187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,523,223 (GRCm39) |
S1238P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,089 (GRCm39) |
L3532S |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,312,042 (GRCm39) |
L701P |
|
Het |
| Aph1b |
A |
C |
9: 66,686,595 (GRCm39) |
I225S |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,469 (GRCm39) |
H337L |
possibly damaging |
Het |
| Atp9a |
A |
G |
2: 168,517,205 (GRCm39) |
M376T |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,976,220 (GRCm39) |
T1698K |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,313,415 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
A |
19: 5,390,402 (GRCm39) |
|
probably benign |
Het |
| Cd248 |
T |
C |
19: 5,120,140 (GRCm39) |
S663P |
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,737,488 (GRCm39) |
M80L |
possibly damaging |
Het |
| Cwc22 |
G |
A |
2: 77,726,659 (GRCm39) |
Q807* |
probably null |
Het |
| Cyp2a4 |
T |
C |
7: 26,014,136 (GRCm39) |
Y438H |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,381,189 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,377,126 (GRCm39) |
V1637D |
probably benign |
Het |
| Elovl1 |
A |
T |
4: 118,289,156 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Ern1 |
T |
C |
11: 106,300,946 (GRCm39) |
K483E |
probably benign |
Het |
| Fzd2 |
T |
C |
11: 102,496,465 (GRCm39) |
F303S |
probably benign |
Het |
| Gm9944 |
A |
T |
4: 144,179,763 (GRCm39) |
V42D |
unknown |
Het |
| Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hinfp |
C |
T |
9: 44,209,062 (GRCm39) |
R352H |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,231,277 (GRCm39) |
H505R |
unknown |
Het |
| Hsfy2 |
C |
T |
1: 56,675,752 (GRCm39) |
D262N |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,174,463 (GRCm39) |
Q186* |
probably null |
Het |
| Ipo8 |
T |
C |
6: 148,700,125 (GRCm39) |
H584R |
probably benign |
Het |
| Krtap8-1 |
T |
A |
16: 89,284,636 (GRCm39) |
R54* |
probably null |
Het |
| Lama4 |
T |
A |
10: 38,932,887 (GRCm39) |
Y588N |
probably benign |
Het |
| Lekr1 |
T |
A |
3: 65,591,426 (GRCm39) |
Y54* |
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,170 (GRCm39) |
D163G |
probably benign |
Het |
| Lzts3 |
A |
T |
2: 130,476,865 (GRCm39) |
Y528N |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,812 (GRCm39) |
V628E |
probably benign |
Het |
| Mgat5b |
A |
C |
11: 116,859,348 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mllt10 |
C |
T |
2: 18,167,404 (GRCm39) |
S443L |
probably benign |
Het |
| Mtf1 |
G |
A |
4: 124,698,913 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,154,068 (GRCm39) |
F669L |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,428 (GRCm39) |
|
probably null |
Het |
| Nog |
G |
C |
11: 89,192,602 (GRCm39) |
S82W |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,276,084 (GRCm39) |
T795A |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,930 (GRCm39) |
F100S |
probably damaging |
Het |
| Or56a3b |
G |
A |
7: 104,771,223 (GRCm39) |
M186I |
probably benign |
Het |
| Or5m3 |
A |
T |
2: 85,838,356 (GRCm39) |
M79L |
|
Het |
| Or5w17 |
A |
T |
2: 87,584,048 (GRCm39) |
F96L |
probably benign |
Het |
| Pira12 |
C |
A |
7: 3,898,500 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,064 (GRCm39) |
I144L |
|
Het |
| Rab11fip5 |
A |
G |
6: 85,317,892 (GRCm39) |
V999A |
probably benign |
Het |
| Serpinb6b |
TTGTTTCTGT |
TTGT |
13: 33,162,139 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
A |
G |
11: 66,110,853 (GRCm39) |
M296T |
probably benign |
Het |
| Slc18a1 |
T |
A |
8: 69,491,533 (GRCm39) |
T494S |
probably benign |
Het |
| Slc22a29 |
T |
G |
19: 8,146,669 (GRCm39) |
I378L |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,920,332 (GRCm39) |
|
probably null |
Het |
| Slc2a7 |
G |
T |
4: 150,243,001 (GRCm39) |
R274L |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,058,911 (GRCm39) |
T1949A |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,866 (GRCm39) |
V3339A |
unknown |
Het |
| Tcp10a |
G |
A |
17: 7,593,935 (GRCm39) |
D87N |
probably benign |
Het |
| Tgm5 |
T |
G |
2: 120,877,270 (GRCm39) |
Q638P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,265 (GRCm39) |
T460A |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,185,208 (GRCm39) |
M50L |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,854,629 (GRCm39) |
S708P |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,876 (GRCm39) |
T9S |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,373 (GRCm39) |
Y272C |
|
Het |
| Vmn1r75 |
G |
T |
7: 11,614,513 (GRCm39) |
A82S |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,678,918 (GRCm39) |
R769* |
probably null |
Het |
| Vps13b |
C |
A |
15: 35,448,793 (GRCm39) |
A589E |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,898,249 (GRCm39) |
R304W |
|
Het |
| Vps41 |
A |
G |
13: 19,011,775 (GRCm39) |
E294G |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,909,113 (GRCm39) |
T802A |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,104,052 (GRCm39) |
D2022E |
|
Het |
| Zfp433 |
T |
A |
10: 81,555,724 (GRCm39) |
C75* |
probably null |
Het |
| Zyg11a |
A |
T |
4: 108,039,009 (GRCm39) |
S737T |
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 |
|
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 |
|
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'- AGGACTTACCCTGAGCTCTAC -3'
(R):5'- TTACCTCAGGGTGTCATCCAC -3'
Sequencing Primer
(F):5'- TTACCCTGAGCTCTACAGGGC -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation