Incidental Mutation 'R4855:Atp8b5'
| ID |
373868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
042466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43344449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 445
(N445K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107937]
[ENSMUST00000107942]
|
| AlphaFold |
A3FIN4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107942
AA Change: N445K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: N445K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
98% (93/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adad1 |
G |
T |
3: 37,139,260 (GRCm39) |
L443F |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,268,378 (GRCm39) |
M70K |
probably damaging |
Het |
| Ankra2 |
T |
A |
13: 98,409,919 (GRCm39) |
L306H |
probably damaging |
Het |
| Arc |
A |
C |
15: 74,543,592 (GRCm39) |
D210E |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,159,367 (GRCm39) |
|
probably null |
Het |
| C1qc |
G |
T |
4: 136,617,746 (GRCm39) |
Q117K |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,822,449 (GRCm38) |
E97V |
unknown |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
A |
T |
13: 17,895,868 (GRCm39) |
W1014R |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,746,908 (GRCm39) |
E23K |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,498,642 (GRCm39) |
I96N |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,816,066 (GRCm39) |
L547Q |
possibly damaging |
Het |
| Ebf1 |
A |
T |
11: 44,863,735 (GRCm39) |
K354* |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,942,466 (GRCm39) |
Q453R |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,054,497 (GRCm39) |
E142G |
possibly damaging |
Het |
| Gm14221 |
T |
C |
2: 160,416,600 (GRCm39) |
|
noncoding transcript |
Het |
| Gm42791 |
C |
A |
5: 148,896,247 (GRCm39) |
|
probably benign |
Het |
| Gm6370 |
G |
T |
5: 146,430,621 (GRCm39) |
V269L |
probably benign |
Het |
| Gphn |
G |
A |
12: 78,673,984 (GRCm39) |
V526M |
probably damaging |
Het |
| Gpt |
A |
T |
15: 76,583,485 (GRCm39) |
E206V |
probably damaging |
Het |
| Grm3 |
G |
A |
5: 9,620,047 (GRCm39) |
A399V |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,931,025 (GRCm39) |
V575E |
possibly damaging |
Het |
| Herc4 |
A |
G |
10: 63,151,437 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,557,381 (GRCm39) |
N452K |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,184,848 (GRCm39) |
|
probably null |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,687 (GRCm39) |
F350L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,555 (GRCm39) |
V2185A |
probably benign |
Het |
| Lgi2 |
T |
C |
5: 52,695,849 (GRCm39) |
Q362R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,773 (GRCm39) |
G367E |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,446,311 (GRCm39) |
H78Y |
probably benign |
Het |
| Matk |
A |
G |
10: 81,098,720 (GRCm39) |
|
probably benign |
Het |
| Med21 |
G |
A |
6: 146,549,690 (GRCm39) |
G24S |
probably damaging |
Het |
| Met |
G |
T |
6: 17,558,796 (GRCm39) |
L1141F |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,128,677 (GRCm39) |
|
probably null |
Het |
| Mrpl15 |
T |
C |
1: 4,844,683 (GRCm39) |
I203V |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,728 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
A |
C |
6: 126,804,505 (GRCm39) |
Y298* |
probably null |
Het |
| Neb |
T |
C |
2: 52,188,906 (GRCm39) |
E808G |
probably damaging |
Het |
| Nol4l |
C |
T |
2: 153,253,726 (GRCm39) |
G616S |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,788,468 (GRCm39) |
C408S |
probably benign |
Het |
| Or2ag18 |
T |
C |
7: 106,405,463 (GRCm39) |
M69V |
probably benign |
Het |
| Or4f14 |
A |
G |
2: 111,742,444 (GRCm39) |
V277A |
probably benign |
Het |
| Or4k42 |
T |
G |
2: 111,320,293 (GRCm39) |
D70A |
probably damaging |
Het |
| Or52e7 |
T |
A |
7: 104,684,858 (GRCm39) |
I151N |
probably damaging |
Het |
| Or5ak20 |
T |
C |
2: 85,183,793 (GRCm39) |
N159S |
possibly damaging |
Het |
| Paqr3 |
A |
G |
5: 97,256,053 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pex5l |
G |
A |
3: 33,196,989 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,285,713 (GRCm39) |
S363N |
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,316,284 (GRCm39) |
D326G |
probably benign |
Het |
| Plaa |
G |
T |
4: 94,474,645 (GRCm39) |
D252E |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,480,040 (GRCm39) |
V1404I |
probably benign |
Het |
| Ppargc1a |
G |
A |
5: 51,631,564 (GRCm39) |
A355V |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,039,726 (GRCm39) |
S350P |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,883 (GRCm39) |
S453P |
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,742,564 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,768,079 (GRCm39) |
V571E |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,929,264 (GRCm39) |
S176T |
possibly damaging |
Het |
| Scyl2 |
G |
A |
10: 89,476,325 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,280,144 (GRCm39) |
V341E |
probably damaging |
Het |
| Serpinb3b |
A |
T |
1: 107,082,270 (GRCm39) |
F331L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,401,022 (GRCm39) |
H1736R |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,327 (GRCm39) |
D180E |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,208 (GRCm39) |
Y179N |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,722,560 (GRCm39) |
N638S |
probably benign |
Het |
| Slc6a4 |
T |
A |
11: 76,904,135 (GRCm39) |
W197R |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,970,649 (GRCm39) |
M1278L |
probably benign |
Het |
| Sptbn1 |
T |
A |
11: 30,092,353 (GRCm39) |
I471F |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,616,680 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
A |
G |
1: 153,768,382 (GRCm39) |
Q282R |
probably benign |
Het |
| Tex35 |
A |
G |
1: 156,927,295 (GRCm39) |
L160P |
probably damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,930 (GRCm39) |
Q533R |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,401,174 (GRCm39) |
D730N |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,122,375 (GRCm39) |
|
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,817,589 (GRCm39) |
W265R |
probably damaging |
Het |
| Wdr11 |
C |
G |
7: 129,202,158 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,341,408 (GRCm39) |
I1216M |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,747,187 (GRCm39) |
|
probably null |
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 |
|
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'- CTGAGGTTTAAAAGCGGCAG -3'
(R):5'- GGTAGAGACACAGCCAACACTG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGACCAGCCTG -3'
(R):5'- GCCAACACTGACAAGACAACTTTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation