Incidental Mutation 'R7085:Atp8b5'
ID |
549811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
045179-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7085 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43361835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 627
(D627G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107937]
[ENSMUST00000107942]
|
AlphaFold |
A3FIN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107942
AA Change: D627G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457 AA Change: D627G
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
104 |
1.8e-26 |
PFAM |
Pfam:E1-E2_ATPase
|
103 |
375 |
4.9e-9 |
PFAM |
Pfam:HAD
|
413 |
847 |
2e-18 |
PFAM |
Pfam:Cation_ATPase
|
495 |
594 |
1e-9 |
PFAM |
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2.6e-77 |
PFAM |
low complexity region
|
1171 |
1180 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
95% (75/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
C |
10: 29,100,476 (GRCm39) |
L283P |
probably damaging |
Het |
Abhd18 |
T |
C |
3: 40,871,344 (GRCm39) |
M132T |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,881,885 (GRCm39) |
V270A |
possibly damaging |
Het |
Ankrd34a |
A |
T |
3: 96,505,945 (GRCm39) |
Q383L |
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,680,289 (GRCm39) |
C730S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,197,768 (GRCm39) |
S4P |
unknown |
Het |
Blzf1 |
T |
C |
1: 164,129,893 (GRCm39) |
D153G |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,950,318 (GRCm39) |
V516A |
probably benign |
Het |
C1qa |
T |
C |
4: 136,625,091 (GRCm39) |
T20A |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,349,492 (GRCm39) |
|
probably null |
Het |
Cfd |
T |
G |
10: 79,728,326 (GRCm39) |
V229G |
probably damaging |
Het |
Chd3 |
T |
A |
11: 69,260,027 (GRCm39) |
H64L |
unknown |
Het |
Cntn3 |
A |
G |
6: 102,142,362 (GRCm39) |
S1002P |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,055,804 (GRCm39) |
C1786S |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,643,619 (GRCm39) |
D355G |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,056,285 (GRCm39) |
V539A |
possibly damaging |
Het |
Ddx1 |
A |
C |
12: 13,279,356 (GRCm39) |
W428G |
probably damaging |
Het |
Ddx49 |
G |
A |
8: 70,755,133 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,468 (GRCm39) |
V4207E |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,779,086 (GRCm39) |
S288P |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,815 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
G |
A |
13: 49,674,378 (GRCm39) |
R266K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,581,100 (GRCm39) |
L542S |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,293,677 (GRCm39) |
Y282H |
possibly damaging |
Het |
Fbxo44 |
T |
A |
4: 148,243,200 (GRCm39) |
H20L |
probably damaging |
Het |
Flot2 |
G |
T |
11: 77,948,900 (GRCm39) |
A292S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,362,214 (GRCm39) |
I2161V |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,889,647 (GRCm39) |
F587S |
probably damaging |
Het |
Gm49368 |
A |
G |
7: 127,726,029 (GRCm39) |
D1147G |
unknown |
Het |
Gprc5b |
A |
T |
7: 118,582,855 (GRCm39) |
M338K |
probably damaging |
Het |
H1f11-ps |
A |
G |
19: 47,159,101 (GRCm39) |
V158A |
unknown |
Het |
Hacd3 |
A |
C |
9: 64,905,525 (GRCm39) |
N204K |
probably damaging |
Het |
Hsd3b9 |
T |
C |
3: 98,357,710 (GRCm39) |
N101D |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,962 (GRCm39) |
T4899A |
probably benign |
Het |
Ido2 |
T |
A |
8: 25,048,212 (GRCm39) |
R49S |
probably benign |
Het |
Igsf3 |
C |
A |
3: 101,362,805 (GRCm39) |
T942K |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,668,183 (GRCm39) |
Q88L |
probably benign |
Het |
Krtap16-1 |
T |
A |
11: 99,877,111 (GRCm39) |
I98F |
possibly damaging |
Het |
Laptm4a |
T |
C |
12: 8,972,113 (GRCm39) |
V52A |
probably benign |
Het |
Lmbr1 |
A |
T |
5: 29,566,090 (GRCm39) |
|
probably null |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Mafa |
G |
T |
15: 75,619,536 (GRCm39) |
A79E |
unknown |
Het |
Me2 |
A |
T |
18: 73,914,129 (GRCm39) |
N467K |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,746,019 (GRCm39) |
L8Q |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,145 (GRCm39) |
I3383F |
unknown |
Het |
Nbas |
G |
T |
12: 13,335,259 (GRCm39) |
S151I |
probably damaging |
Het |
Or10ag60 |
T |
A |
2: 87,437,750 (GRCm39) |
I6N |
probably benign |
Het |
Or10d5j |
C |
A |
9: 39,867,808 (GRCm39) |
C141F |
probably damaging |
Het |
Or13c25 |
C |
T |
4: 52,910,961 (GRCm39) |
A278T |
probably benign |
Het |
Or6k6 |
T |
A |
1: 173,945,226 (GRCm39) |
I119F |
probably damaging |
Het |
Or7d11 |
G |
A |
9: 19,966,232 (GRCm39) |
H58Y |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,217,633 (GRCm39) |
V1305A |
|
Het |
Plcb3 |
T |
C |
19: 6,937,501 (GRCm39) |
E639G |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,634,706 (GRCm39) |
L658P |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,571,391 (GRCm39) |
Q658L |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,168,812 (GRCm39) |
R269S |
possibly damaging |
Het |
Reln |
C |
A |
5: 22,120,085 (GRCm39) |
G2856* |
probably null |
Het |
Rsph10b |
A |
T |
5: 143,886,102 (GRCm39) |
T267S |
possibly damaging |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,050 (GRCm39) |
I161V |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,783 (GRCm39) |
P1165L |
possibly damaging |
Het |
Scn3b |
T |
C |
9: 40,188,394 (GRCm39) |
V29A |
probably damaging |
Het |
Sh3d21 |
T |
A |
4: 126,056,884 (GRCm39) |
T13S |
probably benign |
Het |
Shisal2b |
G |
T |
13: 104,994,814 (GRCm39) |
T111K |
probably benign |
Het |
Slc22a22 |
G |
A |
15: 57,113,045 (GRCm39) |
T398I |
probably benign |
Het |
Slc40a1 |
T |
A |
1: 45,950,688 (GRCm39) |
T255S |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,672,214 (GRCm39) |
|
probably null |
Het |
Soat1 |
A |
T |
1: 156,259,901 (GRCm39) |
V480D |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,722,546 (GRCm39) |
L878P |
possibly damaging |
Het |
Supt5 |
T |
A |
7: 28,030,914 (GRCm39) |
E39V |
unknown |
Het |
Tapbpl |
T |
C |
6: 125,203,451 (GRCm39) |
|
probably null |
Het |
Tdpoz7 |
T |
A |
3: 93,979,939 (GRCm39) |
M5L |
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,600,113 (GRCm39) |
I700F |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,353 (GRCm39) |
K864M |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 73,964,621 (GRCm39) |
P81S |
probably benign |
Het |
Tspan2 |
C |
A |
3: 102,668,270 (GRCm39) |
L168I |
probably benign |
Het |
Unc13d |
C |
A |
11: 115,955,633 (GRCm39) |
S885I |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,976,082 (GRCm39) |
M799K |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,313,097 (GRCm39) |
D547G |
|
Het |
Vps33b |
A |
G |
7: 79,925,837 (GRCm39) |
I95V |
probably benign |
Het |
|
Other mutations in Atp8b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Atp8b5
|
APN |
4 |
43,355,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00970:Atp8b5
|
APN |
4 |
43,311,938 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01335:Atp8b5
|
APN |
4 |
43,302,628 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01462:Atp8b5
|
APN |
4 |
43,368,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01657:Atp8b5
|
APN |
4 |
43,291,693 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01935:Atp8b5
|
APN |
4 |
43,366,638 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01977:Atp8b5
|
APN |
4 |
43,320,590 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02102:Atp8b5
|
APN |
4 |
43,364,167 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02369:Atp8b5
|
APN |
4 |
43,334,205 (GRCm39) |
missense |
probably benign |
|
IGL02456:Atp8b5
|
APN |
4 |
43,365,578 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02696:Atp8b5
|
APN |
4 |
43,369,634 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02826:Atp8b5
|
APN |
4 |
43,366,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Atp8b5
|
APN |
4 |
43,305,774 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0128:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0130:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0243:Atp8b5
|
UTSW |
4 |
43,366,057 (GRCm39) |
missense |
probably benign |
|
R0256:Atp8b5
|
UTSW |
4 |
43,302,576 (GRCm39) |
intron |
probably benign |
|
R0379:Atp8b5
|
UTSW |
4 |
43,361,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R0671:Atp8b5
|
UTSW |
4 |
43,291,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1109:Atp8b5
|
UTSW |
4 |
43,305,719 (GRCm39) |
intron |
probably benign |
|
R1442:Atp8b5
|
UTSW |
4 |
43,334,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R1454:Atp8b5
|
UTSW |
4 |
43,302,590 (GRCm39) |
missense |
probably benign |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1503:Atp8b5
|
UTSW |
4 |
43,344,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Atp8b5
|
UTSW |
4 |
43,355,673 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1677:Atp8b5
|
UTSW |
4 |
43,372,903 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1861:Atp8b5
|
UTSW |
4 |
43,372,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Atp8b5
|
UTSW |
4 |
43,361,804 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1903:Atp8b5
|
UTSW |
4 |
43,357,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Atp8b5
|
UTSW |
4 |
43,369,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R2131:Atp8b5
|
UTSW |
4 |
43,370,726 (GRCm39) |
missense |
probably benign |
0.33 |
R2971:Atp8b5
|
UTSW |
4 |
43,361,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Atp8b5
|
UTSW |
4 |
43,311,957 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3433:Atp8b5
|
UTSW |
4 |
43,372,697 (GRCm39) |
missense |
probably benign |
|
R3690:Atp8b5
|
UTSW |
4 |
43,368,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Atp8b5
|
UTSW |
4 |
43,365,591 (GRCm39) |
missense |
probably damaging |
0.97 |
R4484:Atp8b5
|
UTSW |
4 |
43,357,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Atp8b5
|
UTSW |
4 |
43,365,955 (GRCm39) |
missense |
probably benign |
0.16 |
R4753:Atp8b5
|
UTSW |
4 |
43,372,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4761:Atp8b5
|
UTSW |
4 |
43,308,504 (GRCm39) |
makesense |
probably null |
|
R4784:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4785:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4855:Atp8b5
|
UTSW |
4 |
43,344,449 (GRCm39) |
missense |
probably benign |
|
R5422:Atp8b5
|
UTSW |
4 |
43,366,644 (GRCm39) |
missense |
probably benign |
0.10 |
R5915:Atp8b5
|
UTSW |
4 |
43,370,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Atp8b5
|
UTSW |
4 |
43,304,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Atp8b5
|
UTSW |
4 |
43,371,003 (GRCm39) |
missense |
probably benign |
0.03 |
R6708:Atp8b5
|
UTSW |
4 |
43,334,249 (GRCm39) |
missense |
probably benign |
|
R6931:Atp8b5
|
UTSW |
4 |
43,364,108 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7021:Atp8b5
|
UTSW |
4 |
43,355,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R7207:Atp8b5
|
UTSW |
4 |
43,357,018 (GRCm39) |
missense |
probably damaging |
0.97 |
R7404:Atp8b5
|
UTSW |
4 |
43,342,640 (GRCm39) |
missense |
probably benign |
0.10 |
R7448:Atp8b5
|
UTSW |
4 |
43,366,021 (GRCm39) |
missense |
probably benign |
|
R7465:Atp8b5
|
UTSW |
4 |
43,271,269 (GRCm39) |
missense |
probably benign |
0.00 |
R7526:Atp8b5
|
UTSW |
4 |
43,366,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R7616:Atp8b5
|
UTSW |
4 |
43,370,823 (GRCm39) |
critical splice donor site |
probably null |
|
R7698:Atp8b5
|
UTSW |
4 |
43,366,735 (GRCm39) |
missense |
probably benign |
0.27 |
R7883:Atp8b5
|
UTSW |
4 |
43,342,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R8052:Atp8b5
|
UTSW |
4 |
43,356,982 (GRCm39) |
nonsense |
probably null |
|
R8218:Atp8b5
|
UTSW |
4 |
43,372,728 (GRCm39) |
critical splice donor site |
probably null |
|
R8248:Atp8b5
|
UTSW |
4 |
43,366,072 (GRCm39) |
missense |
probably damaging |
0.97 |
R8345:Atp8b5
|
UTSW |
4 |
43,291,714 (GRCm39) |
missense |
probably benign |
0.01 |
R8756:Atp8b5
|
UTSW |
4 |
43,342,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R8888:Atp8b5
|
UTSW |
4 |
43,304,687 (GRCm39) |
missense |
|
|
R8942:Atp8b5
|
UTSW |
4 |
43,353,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Atp8b5
|
UTSW |
4 |
43,308,493 (GRCm39) |
utr 3 prime |
probably benign |
|
R9154:Atp8b5
|
UTSW |
4 |
43,372,630 (GRCm39) |
missense |
probably benign |
0.19 |
R9211:Atp8b5
|
UTSW |
4 |
43,367,960 (GRCm39) |
missense |
probably damaging |
0.97 |
R9361:Atp8b5
|
UTSW |
4 |
43,369,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9786:Atp8b5
|
UTSW |
4 |
43,305,798 (GRCm39) |
missense |
probably damaging |
0.97 |
X0025:Atp8b5
|
UTSW |
4 |
43,366,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atp8b5
|
UTSW |
4 |
43,361,903 (GRCm39) |
missense |
probably benign |
0.40 |
Z1177:Atp8b5
|
UTSW |
4 |
43,370,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTAGTACAAGAATGGTCCCATG -3'
(R):5'- AGCTTTCTGTTGAGCCTGCC -3'
Sequencing Primer
(F):5'- TAGTACAAGAATGGTCCCATGGTACC -3'
(R):5'- TGTTGAGCCTGCCTACCC -3'
|
Posted On |
2019-05-15 |