Incidental Mutation 'R5955:Atad2'
| ID |
471144 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57969055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 495
(I495V)
|
| 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: I819V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: I819V
| 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: ENSMUST00000226507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228783
AA Change: I495V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
| Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,889 (GRCm39) |
F200L |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,248,843 (GRCm39) |
N569K |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,987,088 (GRCm39) |
V178A |
probably damaging |
Het |
| Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
| Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
| Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
| Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
| Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
| Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
| Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
| Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
| Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
| Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
| Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
| Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
| Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,153 (GRCm39) |
Y590H |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,343,129 (GRCm39) |
N426S |
probably benign |
Het |
| Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
possibly damaging |
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 |
|
|
IGL03308:Atad2
|
APN |
15 |
57,965,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGGCAAAGCTGAGTATGG -3'
(R):5'- ATAGCCTTGTAGATTTCATGGTCTGTC -3'
Sequencing Primer
(F):5'- CGGCAAAGCTGAGTATGGTTTCTC -3'
(R):5'- GTTGCCTGAATAAATTATTTTCTCCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation