Incidental Mutation 'R1109:Atp8b5'
| ID |
98617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
039182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1109 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 43305719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102953]
[ENSMUST00000107937]
[ENSMUST00000107942]
[ENSMUST00000136262]
|
| AlphaFold |
A3FIN4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056010
|
| Predicted Effect |
probably benign
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 benign
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.9%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
G |
3: 121,573,245 (GRCm39) |
E262D |
probably damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,210 (GRCm39) |
A504T |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,606,545 (GRCm39) |
T515A |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Arhgap44 |
T |
A |
11: 64,917,642 (GRCm39) |
H375L |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,384,496 (GRCm39) |
I98F |
probably damaging |
Het |
| Coa3 |
T |
C |
11: 101,169,611 (GRCm39) |
K48R |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,607,005 (GRCm39) |
S473P |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,833,684 (GRCm39) |
Y451N |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,927 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Dtx1 |
G |
A |
5: 120,848,484 (GRCm39) |
|
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,780,114 (GRCm39) |
F479I |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,786,723 (GRCm39) |
T407A |
probably benign |
Het |
| Esrp1 |
T |
C |
4: 11,365,205 (GRCm39) |
E262G |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,418,951 (GRCm39) |
Y466C |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,703,150 (GRCm39) |
F1625S |
possibly damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,479,128 (GRCm39) |
H374Q |
probably benign |
Het |
| Focad |
T |
C |
4: 88,114,984 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
T |
2: 22,571,406 (GRCm39) |
R448L |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,580,171 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,637,405 (GRCm39) |
E377D |
probably benign |
Het |
| Gcc1 |
A |
C |
6: 28,419,166 (GRCm39) |
L389R |
probably damaging |
Het |
| Ggct |
A |
T |
6: 54,966,554 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
G |
A |
17: 22,259,133 (GRCm39) |
|
probably benign |
Het |
| Gps2 |
T |
A |
11: 69,806,507 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,106,602 (GRCm39) |
G62E |
probably damaging |
Het |
| Il3ra |
C |
T |
14: 14,349,317 (GRCm38) |
R138W |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,245 (GRCm39) |
K655N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,430 (GRCm39) |
I848N |
probably damaging |
Het |
| L3hypdh |
A |
G |
12: 72,120,770 (GRCm39) |
V327A |
possibly damaging |
Het |
| Lepr |
G |
T |
4: 101,628,552 (GRCm39) |
L552F |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,740,941 (GRCm39) |
I449T |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,544,225 (GRCm39) |
K8E |
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,967 (GRCm39) |
D348Y |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,538,361 (GRCm39) |
R325* |
probably null |
Het |
| Mkrn1 |
A |
T |
6: 39,376,268 (GRCm39) |
M382K |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,330,709 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,383,892 (GRCm39) |
D1646E |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,450 (GRCm39) |
D145G |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,200 (GRCm39) |
L391* |
probably null |
Het |
| Or10ah1-ps1 |
A |
T |
5: 143,123,374 (GRCm39) |
N216K |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,742 (GRCm39) |
Y83C |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,295 (GRCm39) |
I938F |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,392 (GRCm39) |
K416* |
probably null |
Het |
| Ppid |
T |
C |
3: 79,506,168 (GRCm39) |
S198P |
probably benign |
Het |
| Rabl6 |
G |
T |
2: 25,477,538 (GRCm39) |
P304Q |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,005,208 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
G |
T |
8: 106,345,560 (GRCm39) |
|
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,054,124 (GRCm39) |
L658Q |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,908,228 (GRCm39) |
|
probably benign |
Het |
| Sf3b5 |
T |
C |
10: 12,884,497 (GRCm39) |
M44T |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,686,536 (GRCm39) |
M419L |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,209,394 (GRCm39) |
D393G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,705,199 (GRCm39) |
D230G |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,997,016 (GRCm39) |
T535A |
probably damaging |
Het |
| Smg7 |
G |
C |
1: 152,721,334 (GRCm39) |
P626R |
probably damaging |
Het |
| Smu1 |
C |
T |
4: 40,755,722 (GRCm39) |
V48M |
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,934,667 (GRCm39) |
Y650H |
possibly damaging |
Het |
| Spata1 |
C |
T |
3: 146,181,053 (GRCm39) |
V302I |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,650,377 (GRCm39) |
A1780V |
probably damaging |
Het |
| Srrm2 |
G |
A |
17: 24,038,591 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
C |
6: 48,474,377 (GRCm39) |
N4933H |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,798 (GRCm39) |
I88T |
probably benign |
Het |
| Tgfa |
G |
T |
6: 86,247,072 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
T |
A |
8: 22,733,708 (GRCm39) |
C252S |
possibly damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,630 (GRCm39) |
H114L |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,498,414 (GRCm39) |
K808N |
possibly damaging |
Het |
| Trpm7 |
G |
T |
2: 126,639,713 (GRCm39) |
L1628M |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,561,081 (GRCm39) |
Y29107H |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,273,999 (GRCm39) |
L342P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,829 (GRCm39) |
T117A |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,652 (GRCm39) |
D175G |
probably damaging |
Het |
| Vps35l |
A |
T |
7: 118,374,552 (GRCm39) |
I351F |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,930 (GRCm39) |
M1696R |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,856 (GRCm39) |
V289A |
possibly damaging |
Het |
| Zfyve26 |
A |
C |
12: 79,318,901 (GRCm39) |
F1146V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAAGGGTTTCCCATGCCCACTG -3'
(R):5'- TCGCCCATAGCCCAATTACTAGGTC -3'
Sequencing Primer
(F):5'- cagaagaaagagagcatcagaac -3'
(R):5'- TCTAGTGAGGGAAGCCCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation