Incidental Mutation 'R9546:Atad2'
ID |
720148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2
|
Ensembl Gene |
ENSMUSG00000022360 |
Gene Name |
ATPase family, AAA domain containing 2 |
Synonyms |
2610509G12Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R9546 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57989973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 168
(S168P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
|
AlphaFold |
Q8CDM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038194
AA Change: S168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043691 Gene: ENSMUSG00000022360 AA Change: S168P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
G |
A |
11: 110,135,042 (GRCm39) |
Q248* |
probably null |
Het |
Adgrf4 |
A |
T |
17: 42,978,283 (GRCm39) |
C353* |
probably null |
Het |
Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
Ccdc122 |
T |
A |
14: 77,306,313 (GRCm39) |
V28E |
probably damaging |
Het |
Cd5l |
T |
C |
3: 87,268,201 (GRCm39) |
V16A |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,733,589 (GRCm39) |
S682P |
unknown |
Het |
Chd8 |
T |
C |
14: 52,453,408 (GRCm39) |
I1218V |
probably damaging |
Het |
Clec1b |
A |
C |
6: 129,382,167 (GRCm39) |
I215L |
probably benign |
Het |
Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Epn2 |
T |
C |
11: 61,437,407 (GRCm39) |
E55G |
probably damaging |
Het |
Ern1 |
A |
G |
11: 106,300,853 (GRCm39) |
S514P |
probably benign |
Het |
Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,788,443 (GRCm39) |
D149E |
probably benign |
Het |
Gm12258 |
A |
G |
11: 58,749,922 (GRCm39) |
K366E |
unknown |
Het |
Gm9195 |
G |
T |
14: 72,718,347 (GRCm39) |
H110N |
possibly damaging |
Het |
Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hexb |
T |
C |
13: 97,322,176 (GRCm39) |
D203G |
probably damaging |
Het |
Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
Iglon5 |
A |
T |
7: 43,123,891 (GRCm39) |
M336K |
probably benign |
Het |
Iyd |
A |
T |
10: 3,501,884 (GRCm39) |
I177F |
possibly damaging |
Het |
Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
Klhl12 |
T |
A |
1: 134,413,562 (GRCm39) |
L349Q |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,287,165 (GRCm39) |
|
probably null |
Het |
Mrm2 |
T |
A |
5: 140,314,334 (GRCm39) |
H167L |
probably damaging |
Het |
Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
Mtcl3 |
C |
A |
10: 29,022,805 (GRCm39) |
R51S |
probably damaging |
Het |
Nags |
A |
T |
11: 102,039,081 (GRCm39) |
T471S |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,379,621 (GRCm39) |
R41W |
probably benign |
Het |
Notch1 |
T |
A |
2: 26,371,127 (GRCm39) |
N320Y |
probably damaging |
Het |
Nr2c1 |
A |
G |
10: 94,026,528 (GRCm39) |
K468E |
possibly damaging |
Het |
Nsf |
G |
A |
11: 103,801,275 (GRCm39) |
Q247* |
probably null |
Het |
Obsl1 |
T |
C |
1: 75,482,030 (GRCm39) |
H280R |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,254,049 (GRCm39) |
M107V |
probably benign |
Het |
Pcdha3 |
C |
T |
18: 37,079,389 (GRCm39) |
R44C |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,157,741 (GRCm39) |
S623P |
possibly damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
Plk2 |
T |
A |
13: 110,535,301 (GRCm39) |
I445K |
possibly damaging |
Het |
Pramel51 |
C |
A |
12: 88,148,651 (GRCm39) |
|
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
Prl3d1 |
A |
T |
13: 27,278,982 (GRCm39) |
Y59F |
probably benign |
Het |
Ptprj |
C |
T |
2: 90,274,805 (GRCm39) |
V1186I |
probably benign |
Het |
Raly |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG |
AGCAGCAGTGGTGGAGG |
2: 154,705,754 (GRCm39) |
|
probably benign |
Het |
Ros1 |
C |
T |
10: 51,994,215 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,602,101 (GRCm39) |
|
probably null |
Het |
Scn7a |
A |
T |
2: 66,582,603 (GRCm39) |
I98N |
possibly damaging |
Het |
Spi1 |
T |
A |
2: 90,943,617 (GRCm39) |
S54T |
probably benign |
Het |
Ssna1 |
C |
T |
2: 25,162,316 (GRCm39) |
V16I |
probably benign |
Het |
Sult3a2 |
G |
A |
10: 33,655,670 (GRCm39) |
P103L |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,193,123 (GRCm39) |
G3975D |
probably damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
Vmn2r24 |
A |
C |
6: 123,764,266 (GRCm39) |
E381A |
probably damaging |
Het |
Vmn2r95 |
G |
A |
17: 18,661,721 (GRCm39) |
G489D |
probably benign |
Het |
Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,990,959 (GRCm39) |
L422Q |
probably damaging |
Het |
Zfand3 |
T |
A |
17: 30,372,302 (GRCm39) |
H107Q |
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 |
|
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 |
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 |
|
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'- ATGGGGTCAGGAATTTAGCTCAATTG -3'
(R):5'- GCTATGAAAGTTGATGTTCTGTTGCAC -3'
Sequencing Primer
(F):5'- GGGTGCTAGCACACTTTGATCC -3'
(R):5'- GATGTTCTGTTGCACATTTTCAAG -3'
|
Posted On |
2022-07-18 |