Incidental Mutation 'R4510:Atp8b5'
ID |
470163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
041585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4510 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43320629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 206
(T206A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102953]
[ENSMUST00000107937]
[ENSMUST00000107942]
[ENSMUST00000136262]
|
AlphaFold |
A3FIN4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056010
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102953
AA Change: T206A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100018 Gene: ENSMUSG00000028457 AA Change: T206A
Domain | Start | End | E-Value | Type |
coiled coil region
|
20 |
49 |
N/A |
INTRINSIC |
Blast:CUB
|
55 |
90 |
1e-6 |
BLAST |
Pfam:E1-E2_ATPase
|
107 |
305 |
4.7e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107942
AA Change: T206A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457 AA Change: T206A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136262
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,819 (GRCm39) |
D397E |
probably benign |
Het |
Abcc10 |
A |
G |
17: 46,618,136 (GRCm39) |
F1005L |
probably damaging |
Het |
Ackr4 |
T |
C |
9: 103,975,930 (GRCm39) |
E339G |
probably benign |
Het |
Adam39 |
G |
T |
8: 41,279,328 (GRCm39) |
C573F |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,652 (GRCm39) |
T651A |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,884,740 (GRCm39) |
H594Q |
probably damaging |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Atp4a |
G |
T |
7: 30,423,678 (GRCm39) |
E928* |
probably null |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Atrn |
G |
A |
2: 130,777,497 (GRCm39) |
W182* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,168,154 (GRCm39) |
S1530P |
possibly damaging |
Het |
Cacna1e |
G |
A |
1: 154,437,579 (GRCm39) |
T257I |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,938 (GRCm39) |
Y345C |
probably benign |
Het |
Cyp26b1 |
G |
A |
6: 84,551,473 (GRCm39) |
R248W |
probably damaging |
Het |
Dclk3 |
C |
A |
9: 111,297,060 (GRCm39) |
H201Q |
probably benign |
Het |
Ddx17 |
A |
T |
15: 79,422,793 (GRCm39) |
V315E |
probably damaging |
Het |
Dhrs11 |
T |
C |
11: 84,716,342 (GRCm39) |
*51W |
probably null |
Het |
Fgfr4 |
C |
A |
13: 55,309,328 (GRCm39) |
P455Q |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,103 (GRCm39) |
K697E |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,641 (GRCm39) |
T28I |
probably benign |
Het |
Gga2 |
G |
A |
7: 121,620,301 (GRCm39) |
T4M |
unknown |
Het |
Gm12185 |
T |
A |
11: 48,799,305 (GRCm39) |
H396L |
possibly damaging |
Het |
Gm21976 |
A |
G |
13: 98,441,839 (GRCm39) |
R123G |
probably benign |
Het |
Hecw1 |
A |
C |
13: 14,531,776 (GRCm39) |
V166G |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,295 (GRCm39) |
V372A |
possibly damaging |
Het |
Igkv2-109 |
A |
G |
6: 68,279,962 (GRCm39) |
Y61C |
probably damaging |
Het |
Igsf1 |
A |
G |
X: 48,875,050 (GRCm39) |
F789S |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,175,280 (GRCm39) |
D496G |
possibly damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,511 (GRCm39) |
T547A |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,715,978 (GRCm39) |
P558T |
possibly damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Irak3 |
T |
A |
10: 119,981,813 (GRCm39) |
H393L |
probably damaging |
Het |
Isx |
G |
A |
8: 75,600,298 (GRCm39) |
M10I |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,668,870 (GRCm39) |
D709G |
probably damaging |
Het |
Kcng2 |
G |
T |
18: 80,338,930 (GRCm39) |
R453S |
probably benign |
Het |
Kif5b |
A |
G |
18: 6,214,011 (GRCm39) |
V664A |
probably benign |
Het |
Lalba |
A |
G |
15: 98,380,422 (GRCm39) |
L44P |
probably benign |
Het |
Ldlrad1 |
T |
G |
4: 107,066,715 (GRCm39) |
F17V |
probably benign |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,429,717 (GRCm39) |
Y451C |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,310,406 (GRCm39) |
N2722K |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,973,391 (GRCm39) |
V431I |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,125,016 (GRCm39) |
F866L |
possibly damaging |
Het |
Mylk2 |
A |
G |
2: 152,759,330 (GRCm39) |
E367G |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,678,794 (GRCm39) |
S865P |
probably damaging |
Het |
Nol6 |
G |
C |
4: 41,123,526 (GRCm39) |
T74R |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,637 (GRCm39) |
M2100T |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,418,841 (GRCm39) |
K667R |
possibly damaging |
Het |
Phlda3 |
A |
G |
1: 135,694,400 (GRCm39) |
T72A |
probably damaging |
Het |
Polg |
T |
C |
7: 79,105,270 (GRCm39) |
Q758R |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,757 (GRCm39) |
M243L |
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,439,762 (GRCm39) |
D355G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,382,652 (GRCm39) |
Y398H |
probably damaging |
Het |
Ripk1 |
T |
C |
13: 34,210,731 (GRCm39) |
Y309H |
probably damaging |
Het |
Rngtt |
A |
T |
4: 33,339,032 (GRCm39) |
Q279L |
possibly damaging |
Het |
Rusf1 |
A |
T |
7: 127,875,312 (GRCm39) |
F319Y |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,315,042 (GRCm39) |
V114D |
probably benign |
Het |
Sec23ip |
G |
A |
7: 128,380,900 (GRCm39) |
E956K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,684,747 (GRCm39) |
T128S |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,834,858 (GRCm39) |
I6F |
probably benign |
Het |
Slc6a19 |
A |
C |
13: 73,832,094 (GRCm39) |
L494R |
probably damaging |
Het |
Slc6a21 |
A |
G |
7: 44,936,713 (GRCm39) |
D189G |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,277,372 (GRCm39) |
A381D |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,923,980 (GRCm39) |
|
probably null |
Het |
Stk19 |
T |
C |
17: 35,051,504 (GRCm39) |
E17G |
probably damaging |
Het |
Tekt5 |
A |
C |
16: 10,175,877 (GRCm39) |
V556G |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,070 (GRCm39) |
F2029L |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,236 (GRCm39) |
V330A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,375,910 (GRCm39) |
D432G |
probably damaging |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Tnrc6c |
A |
T |
11: 117,633,784 (GRCm39) |
N1294I |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,965,381 (GRCm39) |
I1625M |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,773 (GRCm39) |
V25040E |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,633,853 (GRCm39) |
N19D |
possibly damaging |
Het |
Washc2 |
A |
T |
6: 116,197,517 (GRCm39) |
D250V |
probably damaging |
Het |
Xpo1 |
A |
G |
11: 23,237,401 (GRCm39) |
T755A |
possibly damaging |
Het |
Zfp462 |
C |
T |
4: 55,008,934 (GRCm39) |
T300I |
possibly damaging |
Het |
Zfp937 |
A |
C |
2: 150,080,431 (GRCm39) |
T154P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,778,996 (GRCm39) |
D1819G |
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 |
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 |
R7085:Atp8b5
|
UTSW |
4 |
43,361,835 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2017-03-07 |