Incidental Mutation 'R8942:Atp8b5'
| ID |
681029 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43353658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 491
(F491L)
|
| 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: F491L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: F491L
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,732 (GRCm39) |
D833E |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,796,568 (GRCm39) |
I626L |
probably benign |
Het |
| AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,790,991 (GRCm39) |
Q138K |
probably benign |
Het |
| Bcap29 |
T |
A |
12: 31,684,353 (GRCm39) |
M1L |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,773,583 (GRCm39) |
D294G |
probably benign |
Het |
| Ccdc170 |
C |
T |
10: 4,484,044 (GRCm39) |
A290V |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,741,292 (GRCm39) |
L228I |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,170,768 (GRCm39) |
V645D |
probably benign |
Het |
| Cyp4a31 |
C |
T |
4: 115,426,918 (GRCm39) |
R173W |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,875 (GRCm39) |
K898R |
probably benign |
Het |
| Efr3b |
G |
T |
12: 4,032,091 (GRCm39) |
H172Q |
possibly damaging |
Het |
| Eipr1 |
A |
T |
12: 28,917,053 (GRCm39) |
N374Y |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,392,002 (GRCm39) |
E414D |
possibly damaging |
Het |
| Exoc3l4 |
G |
T |
12: 111,392,003 (GRCm39) |
V415L |
probably benign |
Het |
| Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,619,134 (GRCm39) |
T80A |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,287 (GRCm39) |
S501P |
probably benign |
Het |
| Gm10643 |
A |
G |
8: 84,790,799 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,481,395 (GRCm39) |
V445D |
probably benign |
Het |
| Hells |
CT |
C |
19: 38,942,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpr |
T |
G |
4: 136,059,791 (GRCm39) |
D197E |
possibly damaging |
Het |
| Hspb1 |
G |
A |
5: 135,916,928 (GRCm39) |
V6M |
probably damaging |
Het |
| Iglon5 |
A |
G |
7: 43,126,315 (GRCm39) |
V196A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,720 (GRCm39) |
T1142A |
probably benign |
Het |
| Katnip |
T |
G |
7: 125,449,975 (GRCm39) |
L1013R |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,724,244 (GRCm39) |
D587V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,901,330 (GRCm39) |
P242L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,173,307 (GRCm39) |
|
probably null |
Het |
| Mrgpre |
T |
C |
7: 143,335,002 (GRCm39) |
Y167C |
|
Het |
| Mtx2 |
A |
T |
2: 74,699,696 (GRCm39) |
I156F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,381,104 (GRCm39) |
S563T |
probably benign |
Het |
| Nmbr |
C |
T |
10: 14,646,197 (GRCm39) |
S357L |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,594 (GRCm39) |
I49N |
possibly damaging |
Het |
| Or4e1 |
A |
C |
14: 52,700,692 (GRCm39) |
I258S |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,743,207 (GRCm39) |
I23F |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,802 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4k15b |
A |
C |
14: 50,272,602 (GRCm39) |
L86R |
probably damaging |
Het |
| Or4p4 |
C |
T |
2: 88,483,308 (GRCm39) |
L271F |
possibly damaging |
Het |
| Pctp |
A |
G |
11: 89,875,554 (GRCm39) |
M203T |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,036,084 (GRCm39) |
V261A |
probably benign |
Het |
| Pm20d1 |
G |
T |
1: 131,739,785 (GRCm39) |
V378F |
possibly damaging |
Het |
| Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,536,861 (GRCm39) |
N490S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,598 (GRCm39) |
E1332G |
probably damaging |
Het |
| Sgce |
G |
T |
6: 4,730,027 (GRCm39) |
L66M |
probably benign |
Het |
| Sycp2l |
G |
T |
13: 41,277,522 (GRCm39) |
|
probably null |
Het |
| Tars1 |
G |
T |
15: 11,384,183 (GRCm39) |
H695N |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,876,851 (GRCm39) |
V107A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,805,793 (GRCm39) |
M1550K |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,869,042 (GRCm39) |
S431R |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,468 (GRCm39) |
D126G |
possibly damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,583 (GRCm39) |
V115I |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,553 (GRCm39) |
T305A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,876 (GRCm39) |
N31K |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,211,808 (GRCm39) |
K380E |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,971 (GRCm39) |
Y499* |
probably null |
Het |
| Zfp777 |
T |
C |
6: 48,006,125 (GRCm39) |
E467G |
probably benign |
Het |
| Zkscan4 |
C |
A |
13: 21,668,680 (GRCm39) |
P406Q |
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 |
|
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 |
|
|
|
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'- ACCCCAGTGTGACAGTCTAG -3'
(R):5'- TGGATCCGTGATCAGTGACTC -3'
Sequencing Primer
(F):5'- TCTAGAAAATGTGCACCTGTGGC -3'
(R):5'- TTGCAGTATTCAGCACTCCACAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation