Incidental Mutation 'R4761:Atp8b5'
ID |
356872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
042402-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R4761 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 43308504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 40
(*40W)
|
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 damaging
Transcript: ENSMUST00000102953
AA Change: D130G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100018 Gene: ENSMUSG00000028457 AA Change: D130G
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 damaging
Transcript: ENSMUST00000107942
AA Change: D130G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457 AA Change: D130G
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 null
Transcript: ENSMUST00000136262
AA Change: *40W
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
A |
G |
9: 101,820,165 (GRCm39) |
D195G |
possibly damaging |
Het |
Abcc8 |
G |
A |
7: 45,762,499 (GRCm39) |
R1221C |
probably damaging |
Het |
Adra1a |
T |
A |
14: 66,964,880 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
A |
T |
13: 4,497,010 (GRCm39) |
M98L |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,753,916 (GRCm39) |
Q1632R |
probably damaging |
Het |
Arhgap24 |
G |
T |
5: 102,812,080 (GRCm39) |
|
probably benign |
Het |
Bdkrb2 |
A |
T |
12: 105,554,537 (GRCm39) |
M17L |
probably benign |
Het |
C4bp |
T |
C |
1: 130,581,158 (GRCm39) |
K117R |
possibly damaging |
Het |
Cacng3 |
A |
T |
7: 122,367,887 (GRCm39) |
T256S |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,464,240 (GRCm39) |
|
probably benign |
Het |
Ces2b |
T |
A |
8: 105,563,193 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,564,592 (GRCm39) |
D1696V |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcst1 |
A |
T |
3: 89,264,860 (GRCm39) |
M296K |
possibly damaging |
Het |
Ehbp1l1 |
G |
A |
19: 5,769,875 (GRCm39) |
P476L |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,517,849 (GRCm39) |
V858A |
possibly damaging |
Het |
Ermp1 |
T |
A |
19: 29,623,656 (GRCm39) |
E55D |
probably benign |
Het |
Eya1 |
G |
A |
1: 14,373,045 (GRCm39) |
L25F |
probably damaging |
Het |
Foxn2 |
T |
A |
17: 88,770,136 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
A |
T |
7: 57,415,250 (GRCm39) |
T107S |
probably damaging |
Het |
Gm26678 |
A |
T |
3: 54,540,564 (GRCm39) |
|
noncoding transcript |
Het |
Gm7897 |
G |
T |
1: 173,657,536 (GRCm39) |
|
noncoding transcript |
Het |
Gm9789 |
A |
T |
16: 88,954,915 (GRCm39) |
Y8F |
unknown |
Het |
Gsta3 |
A |
T |
1: 21,330,381 (GRCm39) |
T78S |
probably benign |
Het |
H2-Ab1 |
A |
G |
17: 34,486,474 (GRCm39) |
N178D |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,639,885 (GRCm39) |
V1000I |
probably benign |
Het |
Hrnr |
A |
C |
3: 93,230,062 (GRCm39) |
K100T |
probably damaging |
Het |
Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,756,981 (GRCm39) |
V232A |
probably benign |
Het |
Kmt2a |
C |
A |
9: 44,760,421 (GRCm39) |
R509L |
probably damaging |
Het |
Lefty1 |
T |
A |
1: 180,765,190 (GRCm39) |
C253S |
probably benign |
Het |
Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
Mfsd9 |
T |
C |
1: 40,813,635 (GRCm39) |
K227E |
possibly damaging |
Het |
Mrps2 |
C |
G |
2: 28,359,946 (GRCm39) |
H268D |
probably benign |
Het |
Mrps27 |
T |
A |
13: 99,548,739 (GRCm39) |
S292T |
probably benign |
Het |
Ncaph |
T |
C |
2: 126,948,036 (GRCm39) |
D683G |
probably benign |
Het |
Nlrc3 |
A |
T |
16: 3,781,514 (GRCm39) |
S632T |
probably damaging |
Het |
Nsun6 |
T |
C |
2: 15,034,872 (GRCm39) |
T198A |
possibly damaging |
Het |
Oasl2 |
C |
T |
5: 115,037,836 (GRCm39) |
H78Y |
probably benign |
Het |
Or8b54 |
T |
C |
9: 38,687,133 (GRCm39) |
V194A |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
Pdgfrb |
C |
A |
18: 61,212,772 (GRCm39) |
S892Y |
probably damaging |
Het |
Phf8-ps |
A |
T |
17: 33,286,172 (GRCm39) |
V210D |
probably damaging |
Het |
Por |
T |
G |
5: 135,754,784 (GRCm39) |
|
probably benign |
Het |
Ppp2r5e |
A |
T |
12: 75,640,035 (GRCm39) |
V22D |
possibly damaging |
Het |
Prcp |
A |
G |
7: 92,566,933 (GRCm39) |
|
probably null |
Het |
Ptchd3 |
A |
T |
11: 121,727,224 (GRCm39) |
N366I |
possibly damaging |
Het |
Rprd1b |
A |
G |
2: 157,889,890 (GRCm39) |
E4G |
probably damaging |
Het |
Semp2l1 |
A |
T |
1: 32,585,588 (GRCm39) |
S107R |
possibly damaging |
Het |
Serpinb6d |
C |
A |
13: 33,855,250 (GRCm39) |
S308Y |
probably damaging |
Het |
Slc12a7 |
T |
C |
13: 73,961,708 (GRCm39) |
V1026A |
probably benign |
Het |
Slc17a7 |
G |
A |
7: 44,820,408 (GRCm39) |
V313I |
probably benign |
Het |
Slc35c1 |
T |
A |
2: 92,289,168 (GRCm39) |
M113L |
probably damaging |
Het |
Smgc |
A |
G |
15: 91,729,717 (GRCm39) |
T178A |
possibly damaging |
Het |
Spef2 |
A |
T |
15: 9,653,040 (GRCm39) |
W914R |
probably damaging |
Het |
Srfbp1 |
C |
A |
18: 52,621,638 (GRCm39) |
P233Q |
probably damaging |
Het |
Swt1 |
A |
C |
1: 151,276,853 (GRCm39) |
C508G |
probably benign |
Het |
Tex22 |
T |
C |
12: 113,052,386 (GRCm39) |
V148A |
possibly damaging |
Het |
Tle7 |
A |
T |
8: 110,836,753 (GRCm39) |
D213V |
probably damaging |
Het |
Tpd52 |
G |
A |
3: 9,028,933 (GRCm39) |
P37L |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,796,230 (GRCm39) |
Y145C |
probably damaging |
Het |
Vmn1r197 |
A |
T |
13: 22,512,174 (GRCm39) |
M32L |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,741,630 (GRCm39) |
F114S |
possibly damaging |
Het |
Xdh |
T |
A |
17: 74,217,262 (GRCm39) |
I669F |
possibly damaging |
Het |
Zfp940 |
G |
A |
7: 29,545,578 (GRCm39) |
R110C |
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 |
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'- AAGATGGGTCTCTTTCTTTCCTT -3'
(R):5'- CCTCAATGAAGTAGAAACAAACTCATT -3'
Sequencing Primer
(F):5'- GATGGGTCTCTTTCTTTCCTTTTCTG -3'
(R):5'- TTTAGCAATGGTGGCCTC -3'
|
Posted On |
2015-11-11 |