Incidental Mutation 'IGL01977:Atp8b5'
| ID |
181749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 43320590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000102953
|
| SMART Domains |
Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
| 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 null
Transcript: ENSMUST00000107942
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
| Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
| Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
| Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
| Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
| Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
| Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
| Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
| Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
| Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
| Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
| Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
| Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
| Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
| Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
| Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
| Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
| Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation