Incidental Mutation 'IGL03308:Atad2'
ID |
416443 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atad2
|
Ensembl Gene |
ENSMUSG00000022360 |
Gene Name |
ATPase family, AAA domain containing 2 |
Synonyms |
2610509G12Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
IGL03308
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57965919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 671
(V671A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
AlphaFold |
Q8CDM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: V995A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043691 Gene: ENSMUSG00000022360 AA Change: V995A
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
low complexity region
|
237 |
268 |
N/A |
INTRINSIC |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
AAA
|
438 |
579 |
9.93e-21 |
SMART |
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
SCOP:d1e32a2
|
751 |
912 |
5e-4 |
SMART |
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
BROMO
|
955 |
1067 |
1.2e-19 |
SMART |
low complexity region
|
1213 |
1235 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226649
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228783
AA Change: V671A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,821 (GRCm39) |
I216V |
probably damaging |
Het |
Abcc1 |
A |
G |
16: 14,288,475 (GRCm39) |
I1367V |
possibly damaging |
Het |
Ap1g2 |
T |
A |
14: 55,342,333 (GRCm39) |
I175F |
probably benign |
Het |
Ccdc134 |
A |
G |
15: 82,015,721 (GRCm39) |
D67G |
probably damaging |
Het |
Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,369,777 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,719,675 (GRCm39) |
L228P |
unknown |
Het |
Eef1a2 |
A |
G |
2: 180,790,629 (GRCm39) |
|
probably benign |
Het |
Fars2 |
T |
G |
13: 36,388,670 (GRCm39) |
I53R |
possibly damaging |
Het |
Frmd4a |
G |
T |
2: 4,502,837 (GRCm39) |
A98S |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,887,957 (GRCm39) |
M106L |
probably benign |
Het |
Hspb8 |
T |
C |
5: 116,547,401 (GRCm39) |
T194A |
possibly damaging |
Het |
Ift27 |
A |
G |
15: 78,050,215 (GRCm39) |
S65P |
probably damaging |
Het |
Inpp5d |
A |
C |
1: 87,630,919 (GRCm39) |
Y430S |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,674,902 (GRCm39) |
S356P |
probably damaging |
Het |
Limch1 |
C |
T |
5: 67,159,901 (GRCm39) |
T443M |
possibly damaging |
Het |
Mcf2l |
C |
T |
8: 13,059,512 (GRCm39) |
R708C |
probably damaging |
Het |
Mlf1 |
T |
C |
3: 67,305,140 (GRCm39) |
W214R |
probably damaging |
Het |
Naga |
A |
T |
15: 82,220,088 (GRCm39) |
L153Q |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,374,349 (GRCm39) |
Q559R |
possibly damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,525 (GRCm39) |
F101S |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,161 (GRCm38) |
H307L |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,255,399 (GRCm39) |
D1148G |
possibly damaging |
Het |
Prss23 |
A |
C |
7: 89,158,938 (GRCm39) |
L377R |
probably benign |
Het |
Ptprc |
G |
T |
1: 138,054,058 (GRCm39) |
T27K |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,364,998 (GRCm39) |
T4553A |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Skint3 |
T |
C |
4: 112,111,264 (GRCm39) |
F130L |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,749,624 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,792,240 (GRCm39) |
N433D |
probably damaging |
Het |
Tapbpl |
G |
A |
6: 125,205,142 (GRCm39) |
A268V |
possibly damaging |
Het |
Tmem131l |
T |
C |
3: 83,848,209 (GRCm39) |
I314V |
probably benign |
Het |
Tmem44 |
A |
G |
16: 30,362,566 (GRCm39) |
W151R |
probably damaging |
Het |
Tnnc1 |
T |
C |
14: 30,931,798 (GRCm39) |
|
probably benign |
Het |
Traf5 |
T |
G |
1: 191,729,461 (GRCm39) |
N530T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,576,907 (GRCm39) |
I24662T |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,341 (GRCm39) |
H220Q |
possibly damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,498,785 (GRCm39) |
C375* |
probably null |
Het |
Vps26b |
T |
C |
9: 26,940,796 (GRCm39) |
Y41C |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,594,562 (GRCm39) |
|
probably benign |
Het |
Xylt1 |
C |
T |
7: 117,236,978 (GRCm39) |
Q576* |
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,505 (GRCm39) |
D1422G |
probably benign |
Het |
|
Other mutations in Atad2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Atad2
|
APN |
15 |
57,980,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00556:Atad2
|
APN |
15 |
57,963,476 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00674:Atad2
|
APN |
15 |
57,971,782 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01407:Atad2
|
APN |
15 |
57,967,921 (GRCm39) |
missense |
probably benign |
|
IGL02557:Atad2
|
APN |
15 |
57,985,993 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03060:Atad2
|
APN |
15 |
57,985,842 (GRCm39) |
unclassified |
probably benign |
|
R0113:Atad2
|
UTSW |
15 |
57,984,330 (GRCm39) |
unclassified |
probably benign |
|
R0195:Atad2
|
UTSW |
15 |
57,963,350 (GRCm39) |
splice site |
probably benign |
|
R0310:Atad2
|
UTSW |
15 |
57,977,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Atad2
|
UTSW |
15 |
57,984,345 (GRCm39) |
missense |
probably benign |
|
R0499:Atad2
|
UTSW |
15 |
57,966,636 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0564:Atad2
|
UTSW |
15 |
57,989,229 (GRCm39) |
splice site |
probably benign |
|
R0578:Atad2
|
UTSW |
15 |
57,968,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R0581:Atad2
|
UTSW |
15 |
57,990,060 (GRCm39) |
missense |
probably benign |
|
R0667:Atad2
|
UTSW |
15 |
57,962,115 (GRCm39) |
missense |
probably benign |
0.01 |
R0697:Atad2
|
UTSW |
15 |
57,968,939 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1219:Atad2
|
UTSW |
15 |
57,998,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1271:Atad2
|
UTSW |
15 |
57,989,985 (GRCm39) |
missense |
probably benign |
0.00 |
R1544:Atad2
|
UTSW |
15 |
57,966,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Atad2
|
UTSW |
15 |
57,963,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1854:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1855:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1860:Atad2
|
UTSW |
15 |
57,960,114 (GRCm39) |
splice site |
probably null |
|
R1861:Atad2
|
UTSW |
15 |
57,960,114 (GRCm39) |
splice site |
probably null |
|
R1876:Atad2
|
UTSW |
15 |
57,970,264 (GRCm39) |
missense |
probably benign |
0.00 |
R1938:Atad2
|
UTSW |
15 |
57,960,101 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2158:Atad2
|
UTSW |
15 |
57,961,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3756:Atad2
|
UTSW |
15 |
57,963,119 (GRCm39) |
missense |
probably benign |
0.01 |
R4256:Atad2
|
UTSW |
15 |
57,980,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R4762:Atad2
|
UTSW |
15 |
57,971,758 (GRCm39) |
missense |
probably benign |
|
R4827:Atad2
|
UTSW |
15 |
57,971,744 (GRCm39) |
missense |
probably benign |
0.07 |
R4838:Atad2
|
UTSW |
15 |
57,966,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R5238:Atad2
|
UTSW |
15 |
57,971,733 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5247:Atad2
|
UTSW |
15 |
57,967,874 (GRCm39) |
nonsense |
probably null |
|
R5685:Atad2
|
UTSW |
15 |
57,980,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5790:Atad2
|
UTSW |
15 |
57,989,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Atad2
|
UTSW |
15 |
57,963,250 (GRCm39) |
missense |
probably benign |
0.42 |
R5886:Atad2
|
UTSW |
15 |
57,961,910 (GRCm39) |
nonsense |
probably null |
|
R5955:Atad2
|
UTSW |
15 |
57,969,055 (GRCm39) |
missense |
probably benign |
0.06 |
R6034:Atad2
|
UTSW |
15 |
57,971,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Atad2
|
UTSW |
15 |
57,971,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Atad2
|
UTSW |
15 |
57,971,487 (GRCm39) |
missense |
probably benign |
0.07 |
R6209:Atad2
|
UTSW |
15 |
57,981,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6587:Atad2
|
UTSW |
15 |
57,984,444 (GRCm39) |
missense |
probably benign |
0.03 |
R6856:Atad2
|
UTSW |
15 |
57,970,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7106:Atad2
|
UTSW |
15 |
57,980,162 (GRCm39) |
critical splice donor site |
probably null |
|
R7178:Atad2
|
UTSW |
15 |
57,980,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7290:Atad2
|
UTSW |
15 |
57,962,047 (GRCm39) |
missense |
probably benign |
0.00 |
R7421:Atad2
|
UTSW |
15 |
57,998,322 (GRCm39) |
missense |
probably benign |
0.40 |
R7583:Atad2
|
UTSW |
15 |
57,990,060 (GRCm39) |
missense |
probably benign |
|
R7861:Atad2
|
UTSW |
15 |
57,989,176 (GRCm39) |
missense |
probably benign |
0.10 |
R7886:Atad2
|
UTSW |
15 |
57,989,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8072:Atad2
|
UTSW |
15 |
57,963,374 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8126:Atad2
|
UTSW |
15 |
57,968,987 (GRCm39) |
missense |
probably benign |
0.02 |
R8845:Atad2
|
UTSW |
15 |
57,989,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R9027:Atad2
|
UTSW |
15 |
57,995,628 (GRCm39) |
missense |
probably benign |
0.04 |
R9079:Atad2
|
UTSW |
15 |
57,989,223 (GRCm39) |
missense |
probably benign |
0.35 |
R9161:Atad2
|
UTSW |
15 |
57,989,185 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9209:Atad2
|
UTSW |
15 |
57,980,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9266:Atad2
|
UTSW |
15 |
57,985,967 (GRCm39) |
missense |
probably benign |
0.00 |
R9306:Atad2
|
UTSW |
15 |
57,959,994 (GRCm39) |
nonsense |
probably null |
|
R9546:Atad2
|
UTSW |
15 |
57,989,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Atad2
|
UTSW |
15 |
57,989,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R9614:Atad2
|
UTSW |
15 |
57,970,119 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Atad2
|
UTSW |
15 |
57,998,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Atad2
|
UTSW |
15 |
57,971,540 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2016-08-02 |