Incidental Mutation 'R5422:Atp8b5'
| ID |
426622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
042846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43366644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 803
(C803S)
|
| 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 benign
Transcript: ENSMUST00000107942
AA Change: C803S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: C803S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,425,606 (GRCm39) |
S1219G |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,660,580 (GRCm39) |
I73N |
probably damaging |
Het |
| Agmat |
C |
A |
4: 141,483,144 (GRCm39) |
H193N |
probably damaging |
Het |
| Ambn |
T |
C |
5: 88,612,370 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,928,507 (GRCm39) |
R109S |
probably benign |
Het |
| Btnl6 |
C |
T |
17: 34,733,081 (GRCm39) |
G261R |
possibly damaging |
Het |
| Clk3 |
A |
G |
9: 57,672,721 (GRCm39) |
V27A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,051 (GRCm39) |
S146G |
probably damaging |
Het |
| Cyp2w1 |
T |
C |
5: 139,338,528 (GRCm39) |
F43L |
probably benign |
Het |
| Elf3 |
C |
T |
1: 135,182,778 (GRCm39) |
E316K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,479,349 (GRCm39) |
D218E |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,222,666 (GRCm39) |
|
probably null |
Het |
| Ewsr1 |
A |
G |
11: 5,030,668 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,941,394 (GRCm39) |
I96V |
possibly damaging |
Het |
| Fgl2 |
T |
G |
5: 21,580,808 (GRCm39) |
N383K |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,625,989 (GRCm39) |
|
probably null |
Het |
| Fn3k |
C |
A |
11: 121,340,948 (GRCm39) |
P201Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,572 (GRCm39) |
I2964V |
probably benign |
Het |
| Gbx1 |
C |
T |
5: 24,709,667 (GRCm39) |
V393I |
possibly damaging |
Het |
| Gch1 |
C |
T |
14: 47,394,906 (GRCm39) |
A187T |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,020 (GRCm39) |
K242N |
probably benign |
Het |
| Ghrhr |
A |
G |
6: 55,365,188 (GRCm39) |
H394R |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,442,208 (GRCm39) |
S236R |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,001 (GRCm39) |
Y66H |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,813,954 (GRCm39) |
|
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,684 (GRCm39) |
C467Y |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,142,512 (GRCm39) |
V303F |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,488 (GRCm39) |
L135P |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,669,785 (GRCm39) |
|
probably null |
Het |
| Myh7b |
A |
C |
2: 155,472,954 (GRCm39) |
Q1405P |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,752,777 (GRCm39) |
I328N |
probably damaging |
Het |
| Nprl2 |
C |
A |
9: 107,420,796 (GRCm39) |
R144S |
probably benign |
Het |
| Ogfr |
G |
T |
2: 180,237,067 (GRCm39) |
D551Y |
possibly damaging |
Het |
| Ogfr |
A |
T |
2: 180,237,068 (GRCm39) |
D551V |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,305 (GRCm39) |
V126E |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,279,270 (GRCm39) |
T143S |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,686,545 (GRCm39) |
K101E |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,920 (GRCm39) |
T627S |
probably damaging |
Het |
| Pdzrn4 |
G |
A |
15: 92,575,502 (GRCm39) |
G303S |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,543 (GRCm39) |
Y628F |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,940,441 (GRCm39) |
W194R |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,102 (GRCm39) |
M474K |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,065,095 (GRCm39) |
F370Y |
probably damaging |
Het |
| Rassf5 |
C |
A |
1: 131,108,911 (GRCm39) |
R218L |
possibly damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,068 (GRCm39) |
H422L |
probably benign |
Het |
| Serpine2 |
C |
A |
1: 79,794,592 (GRCm39) |
V114L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,206 (GRCm39) |
Y16C |
probably benign |
Het |
| Sgms1 |
G |
T |
19: 32,137,232 (GRCm39) |
N111K |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,498,292 (GRCm39) |
M1K |
probably null |
Het |
| Tcf12 |
A |
T |
9: 71,776,320 (GRCm39) |
H403Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,512 (GRCm39) |
I678T |
probably damaging |
Het |
| Thsd7b |
T |
C |
1: 129,849,071 (GRCm39) |
S928P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,715 (GRCm39) |
F1540I |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,669 (GRCm39) |
D457V |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,314,676 (GRCm39) |
I2112V |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,749,650 (GRCm39) |
K249R |
probably damaging |
Het |
| Zfp54 |
C |
A |
17: 21,654,788 (GRCm39) |
S427R |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,401,813 (GRCm39) |
T90A |
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 |
|
|
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'- ACTAACTCAAGAGGTCGGCC -3'
(R):5'- TTTGGGTCAGTCTGCCCATG -3'
Sequencing Primer
(F):5'- TCAAGAGGTCGGCCCCTTG -3'
(R):5'- TCAGTCTGCCCATGGAGGAG -3'
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| Posted On |
2016-09-01 |
Incidental Mutation