Incidental Mutation 'R7178:Atad2'
| ID |
558790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
045232-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57980689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 383
(R383Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038194
AA Change: R383Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: R383Q
| 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 damaging
Transcript: ENSMUST00000228783
AA Change: R59Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1996 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
| Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
| Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,874,099 (GRCm39) |
M696K |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,726,462 (GRCm39) |
T350A |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,850,979 (GRCm39) |
D29G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
| Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
| Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
| Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
| Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
| Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
| Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
| Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
| Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
| Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
| Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
| Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
| Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
| Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
| Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,392,322 (GRCm39) |
V723A |
possibly damaging |
Het |
| Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
| Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
| Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
| Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
| Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
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 |
|
|
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 |
|
|
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'- TGCAGTGAATTAGGACACAGATC -3'
(R):5'- GTCTGAAGACAGCTACAGTGTC -3'
Sequencing Primer
(F):5'- AATGCTCTAAGTGCTGAGCC -3'
(R):5'- ACGCTGGCTTAGAACTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation