Incidental Mutation 'R8126:Atad2'
| ID |
631781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
067555-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R8126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57968987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 841
(I841M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: I841M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: I841M
| 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 |
probably benign
Transcript: ENSMUST00000228783
AA Change: I517M
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
| Validation Efficiency |
95% (42/44) |
| 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 |
|---|
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aplp1 |
T |
A |
7: 30,141,164 (GRCm39) |
D299V |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,192,790 (GRCm39) |
E1348G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,359,881 (GRCm39) |
T1948A |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,558,393 (GRCm39) |
Y431H |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,511,831 (GRCm39) |
D446E |
|
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,007 (GRCm39) |
T1632A |
unknown |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cspg4b |
T |
A |
13: 113,504,697 (GRCm39) |
I1942N |
|
Het |
| Cstl1 |
A |
G |
2: 148,596,591 (GRCm39) |
E98G |
probably benign |
Het |
| Ddx49 |
A |
T |
8: 70,748,246 (GRCm39) |
I303N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm14295 |
A |
G |
2: 176,502,658 (GRCm39) |
D716G |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,475,010 (GRCm39) |
H556Q |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,530,246 (GRCm39) |
I538V |
probably damaging |
Het |
| Ighv1-49 |
C |
T |
12: 115,019,230 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,942,063 (GRCm39) |
N725S |
probably damaging |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,984 (GRCm39) |
S124P |
probably benign |
Het |
| Ncoa1 |
A |
T |
12: 4,340,951 (GRCm39) |
L827Q |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,183,268 (GRCm39) |
N59D |
unknown |
Het |
| Nfkbid |
T |
A |
7: 30,123,799 (GRCm39) |
S120T |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,575,514 (GRCm39) |
Y341H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,463,634 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,114 (GRCm39) |
N42K |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,506 (GRCm39) |
D721G |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,608,952 (GRCm39) |
D348E |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,343,635 (GRCm39) |
C312S |
possibly damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,372 (GRCm39) |
I171M |
probably damaging |
Het |
| Snrpa |
G |
T |
7: 26,892,373 (GRCm39) |
F62L |
possibly damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,369 (GRCm39) |
H591R |
probably benign |
Het |
| Tnfsf8 |
T |
G |
4: 63,752,423 (GRCm39) |
D214A |
possibly damaging |
Het |
| Trdmt1 |
C |
T |
2: 13,524,816 (GRCm39) |
R213H |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,151,430 (GRCm39) |
L877F |
probably damaging |
Het |
| Vmn1r22 |
C |
A |
6: 57,877,669 (GRCm39) |
V103F |
possibly damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,880,712 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,042,814 (GRCm39) |
Y74F |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,067,951 (GRCm39) |
F1429S |
possibly damaging |
Het |
| Zdhhc20 |
C |
A |
14: 58,084,402 (GRCm39) |
V238F |
probably 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 |
|
|
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 |
|
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'- ACAGCCATCACTGGTGTACC -3'
(R):5'- AAGGTTTTATGTGAGAATCCTGGGAC -3'
Sequencing Primer
(F):5'- GCCATCACTGGTGTACCTGATAAAG -3'
(R):5'- GAATCCTGGGACGTTACTATAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation