Incidental Mutation 'R0426:Atad5'
ID |
38666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
038628-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0426 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80003658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1091
(I1091N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017694
AA Change: I1091N
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: I1091N
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
coiled coil region
|
665 |
697 |
N/A |
INTRINSIC |
low complexity region
|
798 |
807 |
N/A |
INTRINSIC |
AAA
|
1111 |
1347 |
5.14e-5 |
SMART |
Blast:AAA
|
1409 |
1526 |
1e-31 |
BLAST |
low complexity region
|
1573 |
1583 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108239
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
coiled coil region
|
665 |
697 |
N/A |
INTRINSIC |
low complexity region
|
798 |
807 |
N/A |
INTRINSIC |
AAA
|
1108 |
1344 |
5.14e-5 |
SMART |
Blast:AAA
|
1406 |
1523 |
1e-31 |
BLAST |
low complexity region
|
1570 |
1580 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154168
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
96% (86/90) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for a gene trap allele exhibit genomic instability, premature death, and a wide spectrum of spontaneous tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,845,853 (GRCm39) |
|
probably benign |
Het |
Acadl |
A |
T |
1: 66,880,805 (GRCm39) |
F320L |
probably damaging |
Het |
Acsbg1 |
T |
C |
9: 54,530,030 (GRCm39) |
D222G |
probably benign |
Het |
Anapc15 |
A |
G |
7: 101,547,240 (GRCm39) |
T39A |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,491,519 (GRCm39) |
V919E |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,882,286 (GRCm39) |
|
probably null |
Het |
Atf1 |
A |
T |
15: 100,130,708 (GRCm39) |
H26L |
possibly damaging |
Het |
Atp10a |
T |
C |
7: 58,434,482 (GRCm39) |
M252T |
probably benign |
Het |
Btbd8 |
C |
T |
5: 107,658,239 (GRCm39) |
T1603I |
probably damaging |
Het |
Cd55 |
C |
T |
1: 130,376,109 (GRCm39) |
R347H |
probably benign |
Het |
Cdc27 |
A |
C |
11: 104,403,853 (GRCm39) |
|
probably null |
Het |
Cdh9 |
G |
A |
15: 16,823,540 (GRCm39) |
|
probably null |
Het |
Cdk11b |
T |
C |
4: 155,726,969 (GRCm39) |
|
probably benign |
Het |
Cep70 |
A |
G |
9: 99,179,737 (GRCm39) |
D567G |
probably benign |
Het |
Cep78 |
A |
T |
19: 15,948,334 (GRCm39) |
Y382* |
probably null |
Het |
Cgas |
G |
A |
9: 78,343,020 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
T |
C |
4: 120,901,857 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
G |
A |
15: 82,443,164 (GRCm39) |
D409N |
probably benign |
Het |
Ddx39a |
A |
G |
8: 84,448,398 (GRCm39) |
T217A |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,097,934 (GRCm39) |
D733E |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,668,801 (GRCm39) |
S1294P |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,542,795 (GRCm39) |
E3539G |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,840,875 (GRCm39) |
|
probably benign |
Het |
Dysf |
T |
C |
6: 84,126,739 (GRCm39) |
L1332P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,010,409 (GRCm39) |
D380G |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
Fhip1b |
A |
C |
7: 105,038,680 (GRCm39) |
C186W |
probably damaging |
Het |
Galr2 |
C |
A |
11: 116,172,517 (GRCm39) |
A69D |
probably damaging |
Het |
Grk2 |
T |
C |
19: 4,340,628 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
A |
T |
7: 125,262,188 (GRCm39) |
Y1119* |
probably null |
Het |
Hgd |
A |
T |
16: 37,409,047 (GRCm39) |
|
probably benign |
Het |
Ildr2 |
G |
T |
1: 166,136,468 (GRCm39) |
V436L |
probably benign |
Het |
Intu |
G |
A |
3: 40,629,735 (GRCm39) |
C355Y |
probably damaging |
Het |
Irf2bpl |
G |
T |
12: 86,929,870 (GRCm39) |
P268T |
probably benign |
Het |
Jarid2 |
T |
C |
13: 44,994,358 (GRCm39) |
|
probably null |
Het |
Jup |
A |
T |
11: 100,263,227 (GRCm39) |
M716K |
probably benign |
Het |
Kank1 |
G |
A |
19: 25,388,837 (GRCm39) |
V809I |
probably damaging |
Het |
Kdm1b |
T |
A |
13: 47,217,720 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
C |
T |
6: 71,577,739 (GRCm39) |
C687Y |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 942,437 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,693,121 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
A |
4: 123,377,453 (GRCm39) |
K1400* |
probably null |
Het |
Majin |
A |
G |
19: 6,262,147 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
A |
G |
13: 77,168,940 (GRCm39) |
I846V |
probably benign |
Het |
Mrgpra2b |
T |
A |
7: 47,113,875 (GRCm39) |
I286F |
possibly damaging |
Het |
Neil3 |
T |
G |
8: 54,062,431 (GRCm39) |
|
probably benign |
Het |
Nox3 |
G |
T |
17: 3,745,838 (GRCm39) |
N23K |
probably damaging |
Het |
Nt5c3 |
T |
C |
6: 56,860,797 (GRCm39) |
K219E |
probably benign |
Het |
Or1e29 |
T |
A |
11: 73,667,263 (GRCm39) |
M297L |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,191,893 (GRCm39) |
I250N |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or6b13 |
A |
C |
7: 139,782,029 (GRCm39) |
F218C |
possibly damaging |
Het |
Or6d13 |
A |
T |
6: 116,517,446 (GRCm39) |
N11Y |
probably damaging |
Het |
Or8g34 |
T |
C |
9: 39,372,889 (GRCm39) |
L54P |
probably damaging |
Het |
Pacsin2 |
A |
G |
15: 83,263,996 (GRCm39) |
V347A |
possibly damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,475,857 (GRCm39) |
E331V |
probably damaging |
Het |
Pcid2 |
A |
C |
8: 13,131,262 (GRCm39) |
|
probably null |
Het |
Pcsk9 |
T |
C |
4: 106,307,274 (GRCm39) |
D323G |
possibly damaging |
Het |
Pdhb |
T |
C |
14: 8,169,801 (GRCm38) |
E203G |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,655,095 (GRCm39) |
Y630C |
probably benign |
Het |
Pidd1 |
C |
T |
7: 141,019,046 (GRCm39) |
A812T |
probably damaging |
Het |
Plau |
G |
A |
14: 20,892,382 (GRCm39) |
R389H |
probably benign |
Het |
Plekhg6 |
G |
A |
6: 125,341,592 (GRCm39) |
|
probably null |
Het |
Ppox |
T |
C |
1: 171,105,322 (GRCm39) |
Y321C |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,037,065 (GRCm39) |
N281S |
possibly damaging |
Het |
Pycr3 |
A |
T |
15: 75,790,237 (GRCm39) |
M138K |
probably benign |
Het |
Radil |
T |
C |
5: 142,483,628 (GRCm39) |
Y526C |
probably damaging |
Het |
Ranbp3 |
C |
A |
17: 57,014,169 (GRCm39) |
D233E |
probably benign |
Het |
Rhpn1 |
A |
G |
15: 75,583,721 (GRCm39) |
Q402R |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,410,532 (GRCm39) |
|
probably benign |
Het |
Sel1l2 |
A |
T |
2: 140,082,832 (GRCm39) |
L602* |
probably null |
Het |
Sema5b |
G |
A |
16: 35,466,725 (GRCm39) |
G209D |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,073,333 (GRCm39) |
Y1992C |
possibly damaging |
Het |
Syncrip |
T |
A |
9: 88,338,312 (GRCm39) |
|
probably benign |
Het |
Synj1 |
G |
T |
16: 90,764,242 (GRCm39) |
A65E |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,502,610 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,427,058 (GRCm39) |
G698C |
probably damaging |
Het |
Tmem209 |
G |
A |
6: 30,491,181 (GRCm39) |
L259F |
probably damaging |
Het |
Tmem247 |
G |
A |
17: 87,225,931 (GRCm39) |
E124K |
possibly damaging |
Het |
Tnks2 |
C |
A |
19: 36,830,221 (GRCm39) |
A218E |
probably damaging |
Het |
Tppp |
T |
A |
13: 74,169,430 (GRCm39) |
F57I |
probably damaging |
Het |
Trim36 |
A |
G |
18: 46,305,592 (GRCm39) |
W452R |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,975,476 (GRCm39) |
V262E |
probably damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Zfp516 |
G |
T |
18: 82,973,897 (GRCm39) |
A32S |
probably benign |
Het |
Zfy2 |
G |
T |
Y: 2,107,348 (GRCm39) |
L429I |
possibly damaging |
Het |
|
Other mutations in Atad5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00753:Atad5
|
APN |
11 |
80,023,684 (GRCm39) |
missense |
probably benign |
0.22 |
IGL00916:Atad5
|
APN |
11 |
80,009,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Atad5
|
APN |
11 |
79,986,390 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01601:Atad5
|
APN |
11 |
79,986,343 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01916:Atad5
|
APN |
11 |
80,003,665 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02028:Atad5
|
APN |
11 |
80,024,936 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02095:Atad5
|
APN |
11 |
79,985,533 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02142:Atad5
|
APN |
11 |
79,985,023 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02206:Atad5
|
APN |
11 |
79,985,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Atad5
|
APN |
11 |
79,985,453 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02858:Atad5
|
APN |
11 |
79,980,601 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02962:Atad5
|
APN |
11 |
79,999,405 (GRCm39) |
missense |
possibly damaging |
0.86 |
PIT4362001:Atad5
|
UTSW |
11 |
80,002,393 (GRCm39) |
missense |
probably benign |
0.04 |
R0040:Atad5
|
UTSW |
11 |
79,988,840 (GRCm39) |
missense |
probably benign |
|
R0157:Atad5
|
UTSW |
11 |
79,980,643 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0211:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.00 |
R0211:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.00 |
R0319:Atad5
|
UTSW |
11 |
80,011,616 (GRCm39) |
splice site |
probably benign |
|
R0401:Atad5
|
UTSW |
11 |
80,011,525 (GRCm39) |
missense |
probably benign |
0.11 |
R0452:Atad5
|
UTSW |
11 |
79,997,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R0496:Atad5
|
UTSW |
11 |
79,991,182 (GRCm39) |
missense |
probably benign |
0.08 |
R1691:Atad5
|
UTSW |
11 |
79,986,358 (GRCm39) |
missense |
probably benign |
0.00 |
R1812:Atad5
|
UTSW |
11 |
80,023,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R2070:Atad5
|
UTSW |
11 |
79,988,878 (GRCm39) |
splice site |
probably null |
|
R2071:Atad5
|
UTSW |
11 |
79,988,878 (GRCm39) |
splice site |
probably null |
|
R2153:Atad5
|
UTSW |
11 |
79,997,203 (GRCm39) |
missense |
probably benign |
0.04 |
R2415:Atad5
|
UTSW |
11 |
79,985,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R3917:Atad5
|
UTSW |
11 |
79,994,120 (GRCm39) |
missense |
probably null |
0.97 |
R4025:Atad5
|
UTSW |
11 |
80,011,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4464:Atad5
|
UTSW |
11 |
79,991,137 (GRCm39) |
splice site |
probably null |
|
R4561:Atad5
|
UTSW |
11 |
79,986,715 (GRCm39) |
missense |
probably benign |
0.01 |
R4579:Atad5
|
UTSW |
11 |
79,986,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Atad5
|
UTSW |
11 |
80,005,137 (GRCm39) |
splice site |
probably null |
|
R4853:Atad5
|
UTSW |
11 |
79,986,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Atad5
|
UTSW |
11 |
80,011,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Atad5
|
UTSW |
11 |
80,011,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R5054:Atad5
|
UTSW |
11 |
79,985,502 (GRCm39) |
missense |
probably benign |
0.10 |
R5226:Atad5
|
UTSW |
11 |
79,985,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5397:Atad5
|
UTSW |
11 |
80,002,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Atad5
|
UTSW |
11 |
80,014,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R5571:Atad5
|
UTSW |
11 |
80,002,382 (GRCm39) |
missense |
probably benign |
0.05 |
R5575:Atad5
|
UTSW |
11 |
79,991,149 (GRCm39) |
missense |
probably benign |
0.02 |
R5857:Atad5
|
UTSW |
11 |
80,022,155 (GRCm39) |
missense |
probably benign |
0.06 |
R5927:Atad5
|
UTSW |
11 |
80,018,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Atad5
|
UTSW |
11 |
79,985,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Atad5
|
UTSW |
11 |
79,986,835 (GRCm39) |
nonsense |
probably null |
|
R6102:Atad5
|
UTSW |
11 |
80,002,398 (GRCm39) |
critical splice donor site |
probably null |
|
R6254:Atad5
|
UTSW |
11 |
80,018,215 (GRCm39) |
missense |
probably damaging |
0.96 |
R6562:Atad5
|
UTSW |
11 |
80,024,032 (GRCm39) |
missense |
probably benign |
0.26 |
R6744:Atad5
|
UTSW |
11 |
80,024,858 (GRCm39) |
missense |
probably benign |
0.00 |
R7092:Atad5
|
UTSW |
11 |
80,011,546 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7202:Atad5
|
UTSW |
11 |
79,980,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R7345:Atad5
|
UTSW |
11 |
79,986,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Atad5
|
UTSW |
11 |
79,994,169 (GRCm39) |
critical splice donor site |
probably null |
|
R7358:Atad5
|
UTSW |
11 |
80,023,862 (GRCm39) |
missense |
probably benign |
0.32 |
R7420:Atad5
|
UTSW |
11 |
79,986,688 (GRCm39) |
missense |
probably benign |
0.06 |
R7453:Atad5
|
UTSW |
11 |
80,009,969 (GRCm39) |
critical splice donor site |
probably null |
|
R7990:Atad5
|
UTSW |
11 |
80,024,079 (GRCm39) |
nonsense |
probably null |
|
R8012:Atad5
|
UTSW |
11 |
79,985,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Atad5
|
UTSW |
11 |
79,985,996 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8421:Atad5
|
UTSW |
11 |
79,985,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R8842:Atad5
|
UTSW |
11 |
80,000,910 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8918:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.02 |
R8943:Atad5
|
UTSW |
11 |
79,986,524 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8944:Atad5
|
UTSW |
11 |
79,986,524 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9134:Atad5
|
UTSW |
11 |
80,023,931 (GRCm39) |
missense |
probably benign |
0.00 |
R9137:Atad5
|
UTSW |
11 |
79,986,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Atad5
|
UTSW |
11 |
79,986,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R9372:Atad5
|
UTSW |
11 |
79,985,094 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9404:Atad5
|
UTSW |
11 |
80,005,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Atad5
|
UTSW |
11 |
80,023,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9471:Atad5
|
UTSW |
11 |
80,023,524 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9577:Atad5
|
UTSW |
11 |
80,004,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9656:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
R9659:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
R9661:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
RF003:Atad5
|
UTSW |
11 |
80,002,386 (GRCm39) |
missense |
probably damaging |
0.99 |
X0024:Atad5
|
UTSW |
11 |
80,023,609 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Atad5
|
UTSW |
11 |
79,985,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- tgacttcctcaACCACACATATCGC -3'
(R):5'- TGAGCACAAGCATACACGGCAG -3'
Sequencing Primer
(F):5'- agaccacagcatttgagcc -3'
(R):5'- AGTCCGTGCTATCCGATAAATCTG -3'
|
Posted On |
2013-05-23 |