Incidental Mutation 'R7883:Atp8b5'
| ID |
608868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
045935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43342471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 381
(I381V)
|
| 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: I381V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I381V
| 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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110065P20Rik |
A |
T |
4: 124,744,440 (GRCm39) |
W5R |
unknown |
Het |
| Abcb6 |
A |
T |
1: 75,154,660 (GRCm39) |
S258R |
possibly damaging |
Het |
| Abcc10 |
A |
G |
17: 46,618,027 (GRCm39) |
V1082A |
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,447 (GRCm39) |
V126A |
probably damaging |
Het |
| Apol11a |
A |
G |
15: 77,400,774 (GRCm39) |
E87G |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,863,423 (GRCm39) |
C755* |
probably null |
Het |
| Arl13b |
A |
T |
16: 62,647,629 (GRCm39) |
I93K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,406,405 (GRCm39) |
K1764R |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,940,180 (GRCm39) |
H985R |
possibly damaging |
Het |
| Bms1 |
G |
T |
6: 118,365,735 (GRCm39) |
N1150K |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,566,037 (GRCm39) |
D749G |
probably damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,454,978 (GRCm39) |
A274V |
possibly damaging |
Het |
| Chd7 |
A |
G |
4: 8,826,504 (GRCm39) |
N956S |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,613,438 (GRCm39) |
|
probably null |
Het |
| Cttn |
C |
T |
7: 143,999,555 (GRCm39) |
V338I |
probably benign |
Het |
| Dab2ip |
G |
A |
2: 35,610,218 (GRCm39) |
G811D |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,190,397 (GRCm39) |
T106A |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,005,566 (GRCm39) |
E3768G |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,709,229 (GRCm39) |
D612E |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,190 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
A |
3: 39,035,968 (GRCm39) |
E3207K |
probably damaging |
Het |
| Fbxw18 |
A |
G |
9: 109,517,474 (GRCm39) |
Y410H |
probably damaging |
Het |
| Fgfr3 |
T |
A |
5: 33,891,235 (GRCm39) |
S518T |
probably damaging |
Het |
| Fzr1 |
G |
A |
10: 81,204,469 (GRCm39) |
T377M |
probably damaging |
Het |
| Gcnt3 |
T |
A |
9: 69,941,453 (GRCm39) |
I372F |
probably damaging |
Het |
| Gm10577 |
A |
T |
4: 100,877,719 (GRCm39) |
Y59N |
unknown |
Het |
| Gm826 |
A |
G |
2: 160,169,213 (GRCm39) |
L32P |
unknown |
Het |
| Grid1 |
T |
G |
14: 35,172,259 (GRCm39) |
|
probably null |
Het |
| Hid1 |
T |
A |
11: 115,245,435 (GRCm39) |
T457S |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,529,456 (GRCm39) |
V58A |
probably benign |
Het |
| Iqcj |
A |
G |
3: 67,954,641 (GRCm39) |
K49E |
probably damaging |
Het |
| Itpk1 |
A |
G |
12: 102,572,434 (GRCm39) |
V93A |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,450,888 (GRCm39) |
I722M |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,601,217 (GRCm39) |
V412A |
possibly damaging |
Het |
| Krt18 |
G |
A |
15: 101,936,885 (GRCm39) |
V58M |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,934,657 (GRCm39) |
Y691C |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,555,141 (GRCm39) |
I4095N |
|
Het |
| Map1a |
A |
G |
2: 121,135,853 (GRCm39) |
E2223G |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,541,232 (GRCm39) |
F94L |
possibly damaging |
Het |
| Mertk |
A |
G |
2: 128,618,265 (GRCm39) |
I499V |
probably benign |
Het |
| Mrps12 |
A |
G |
7: 28,439,568 (GRCm39) |
L49P |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,393,754 (GRCm39) |
V339D |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,960,835 (GRCm39) |
Q3159* |
probably null |
Het |
| Patj |
G |
A |
4: 98,499,372 (GRCm39) |
V1349I |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,196 (GRCm39) |
V226D |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pdzd7 |
A |
C |
19: 45,018,679 (GRCm39) |
I600S |
probably damaging |
Het |
| Pgpep1l |
G |
A |
7: 67,888,897 (GRCm39) |
R45* |
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,407,416 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,392,522 (GRCm39) |
D1619V |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,812,641 (GRCm39) |
|
probably null |
Het |
| Ppan |
T |
A |
9: 20,802,777 (GRCm39) |
I311N |
probably benign |
Het |
| Ppih |
C |
A |
4: 119,167,987 (GRCm39) |
G175W |
probably damaging |
Het |
| Ppp1r8 |
G |
T |
4: 132,562,026 (GRCm39) |
Q65K |
probably damaging |
Het |
| Psmd5 |
T |
A |
2: 34,746,524 (GRCm39) |
K351M |
possibly damaging |
Het |
| Pth1r |
T |
C |
9: 110,560,626 (GRCm39) |
K53R |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,239,007 (GRCm39) |
F9L |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,892,723 (GRCm39) |
I288V |
probably benign |
Het |
| Sds |
A |
G |
5: 120,617,278 (GRCm39) |
I45V |
possibly damaging |
Het |
| Sfxn4 |
A |
T |
19: 60,847,187 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,828,329 (GRCm39) |
C1220S |
possibly damaging |
Het |
| Slc22a16 |
T |
G |
10: 40,479,660 (GRCm39) |
D577E |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,385,340 (GRCm39) |
M43K |
possibly damaging |
Het |
| Smpd1 |
T |
C |
7: 105,206,192 (GRCm39) |
I440T |
probably damaging |
Het |
| Spata6l |
A |
C |
19: 28,906,013 (GRCm39) |
S297A |
probably benign |
Het |
| St6galnac6 |
A |
G |
2: 32,504,941 (GRCm39) |
N151S |
probably benign |
Het |
| Taf4 |
G |
T |
2: 179,571,088 (GRCm39) |
L742M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,402,375 (GRCm39) |
S20P |
possibly damaging |
Het |
| Tkfc |
A |
T |
19: 10,572,394 (GRCm39) |
|
probably null |
Het |
| Tmem270 |
A |
G |
5: 134,931,681 (GRCm39) |
V87A |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,153,169 (GRCm39) |
H395R |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,114 (GRCm39) |
F206L |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,166,188 (GRCm39) |
|
probably null |
Het |
| Tulp3 |
G |
A |
6: 128,303,807 (GRCm39) |
T264M |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,244,440 (GRCm39) |
D194G |
possibly damaging |
Het |
| Vill |
C |
A |
9: 118,894,589 (GRCm39) |
C415* |
probably null |
Het |
| Zfp799 |
A |
G |
17: 33,039,256 (GRCm39) |
C337R |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,270 (GRCm39) |
E213G |
possibly 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 |
|
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 |
|
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'- TAATCAGTTCTATTGGGGTCCAG -3'
(R):5'- CACCATAGGTCTTCCCGTTG -3'
Sequencing Primer
(F):5'- CCTTGCATAATAGTAGCCAGGGTC -3'
(R):5'- AGGTCTTCCCGTTGATAGAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation