Incidental Mutation 'R1442:Atp8b5'
| ID |
161523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b5
|
| Ensembl Gene |
ENSMUSG00000028457 |
| Gene Name |
ATPase, class I, type 8B, member 5 |
| Synonyms |
4930417M19Rik, FetA |
| MMRRC Submission |
039497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43334313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 360
(T360S)
|
| 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 damaging
Transcript: ENSMUST00000107942
AA Change: T360S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: T360S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.4%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,833 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,070,823 (GRCm39) |
I648N |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,385,526 (GRCm39) |
F2252I |
probably damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,507,159 (GRCm39) |
H314L |
probably damaging |
Het |
| Anxa3 |
T |
A |
5: 96,976,549 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
G |
12: 8,036,165 (GRCm39) |
F298V |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 60,097,772 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
A |
T |
13: 60,932,555 (GRCm39) |
N43K |
probably benign |
Het |
| Bicral |
T |
A |
17: 47,112,650 (GRCm39) |
H850L |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,339,011 (GRCm39) |
D227G |
probably damaging |
Het |
| C8a |
T |
A |
4: 104,685,275 (GRCm39) |
T323S |
possibly damaging |
Het |
| Cep89 |
T |
C |
7: 35,117,636 (GRCm39) |
|
probably benign |
Het |
| Cercam |
G |
T |
2: 29,770,652 (GRCm39) |
V408L |
probably benign |
Het |
| CN725425 |
G |
A |
15: 91,123,158 (GRCm39) |
V76M |
possibly damaging |
Het |
| Cops7b |
T |
A |
1: 86,532,835 (GRCm39) |
M231K |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,544,865 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
T |
2: 35,600,268 (GRCm39) |
I287F |
probably damaging |
Het |
| Defb10 |
A |
T |
8: 22,348,944 (GRCm39) |
M1L |
probably benign |
Het |
| Dscam |
C |
A |
16: 96,409,274 (GRCm39) |
R1883L |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,717 (GRCm39) |
I640N |
possibly damaging |
Het |
| Duox2 |
G |
C |
2: 122,112,232 (GRCm39) |
P1318R |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,985 (GRCm39) |
D466G |
probably benign |
Het |
| E230025N22Rik |
T |
A |
18: 36,824,462 (GRCm39) |
|
probably null |
Het |
| E2f3 |
A |
G |
13: 30,102,652 (GRCm39) |
L80P |
probably damaging |
Het |
| Eif2b2 |
T |
C |
12: 85,266,360 (GRCm39) |
S9P |
probably benign |
Het |
| Etaa1 |
A |
T |
11: 17,897,201 (GRCm39) |
D305E |
probably benign |
Het |
| Fads6 |
C |
A |
11: 115,188,235 (GRCm39) |
R23L |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,746,979 (GRCm39) |
V439A |
probably damaging |
Het |
| Galm |
A |
C |
17: 80,452,614 (GRCm39) |
Q184P |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,744,303 (GRCm39) |
|
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,843,935 (GRCm39) |
T246A |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,532,697 (GRCm39) |
V639A |
possibly damaging |
Het |
| Klhdc8a |
G |
A |
1: 132,230,385 (GRCm39) |
A167T |
possibly damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,059,469 (GRCm39) |
H252R |
probably benign |
Het |
| Lzts1 |
G |
T |
8: 69,591,638 (GRCm39) |
A170E |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,403,461 (GRCm39) |
I856F |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,160,075 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Myh3 |
A |
G |
11: 66,978,103 (GRCm39) |
N392D |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,262,328 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,328,106 (GRCm39) |
M1068L |
probably benign |
Het |
| Nup58 |
T |
A |
14: 60,469,992 (GRCm39) |
|
probably benign |
Het |
| Or10c1 |
T |
C |
17: 37,522,595 (GRCm39) |
T50A |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,250,438 (GRCm39) |
I286N |
probably damaging |
Het |
| Or8b1 |
A |
T |
9: 38,399,939 (GRCm39) |
I205F |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,211,068 (GRCm39) |
Y121C |
probably damaging |
Het |
| Parp2 |
T |
G |
14: 51,056,732 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,564,504 (GRCm39) |
V9A |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,000,050 (GRCm39) |
D856V |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,535,580 (GRCm39) |
T466S |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,325 (GRCm39) |
V103A |
possibly damaging |
Het |
| Sec23ip |
A |
C |
7: 128,378,510 (GRCm39) |
S775R |
probably benign |
Het |
| Slit2 |
T |
G |
5: 48,395,725 (GRCm39) |
D709E |
probably damaging |
Het |
| Smok2b |
C |
G |
17: 13,454,390 (GRCm39) |
I183M |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,648,780 (GRCm39) |
D158V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,993,489 (GRCm39) |
I2087T |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,243,778 (GRCm39) |
I2025F |
probably damaging |
Het |
| Themis |
T |
C |
10: 28,658,131 (GRCm39) |
V386A |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,015,168 (GRCm39) |
|
probably benign |
Het |
| Vcl |
T |
A |
14: 21,033,446 (GRCm39) |
I134N |
probably damaging |
Het |
| Vegfa |
G |
A |
17: 46,336,418 (GRCm39) |
T56I |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,623 (GRCm39) |
K78* |
probably null |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,201 (GRCm39) |
T395S |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,407 (GRCm39) |
S315P |
probably benign |
Het |
| Zfp566 |
T |
C |
7: 29,777,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,180,784 (GRCm39) |
Y899H |
probably 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 |
|
|
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 |
|
|
|
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'- TCTCCAAGGGGAAACATCTATGAGAGC -3'
(R):5'- GCAGCGTCTAGTTACTGTTTACACACC -3'
Sequencing Primer
(F):5'- ACATCTATGAGAGCTAAGACTGC -3'
(R):5'- ctgatgctgaggcaggg -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation