Incidental Mutation 'R7861:Atad2'
| ID |
607543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
045914-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57989176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 228
(A228V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: A228V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: A228V
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,797,360 (GRCm39) |
I50F |
possibly damaging |
Het |
| Abcc3 |
T |
C |
11: 94,248,075 (GRCm39) |
D1175G |
probably null |
Het |
| Accs |
C |
A |
2: 93,666,077 (GRCm39) |
*503L |
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,604,485 (GRCm39) |
E520G |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,681,525 (GRCm39) |
C215F |
probably benign |
Het |
| Apbb1ip |
A |
C |
2: 22,706,990 (GRCm39) |
D9A |
unknown |
Het |
| Atp10a |
T |
C |
7: 58,438,107 (GRCm39) |
S430P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,573 (GRCm39) |
D6G |
unknown |
Het |
| Brca1 |
A |
T |
11: 101,417,248 (GRCm39) |
N295K |
possibly damaging |
Het |
| Caly |
C |
A |
7: 139,661,301 (GRCm39) |
|
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,053 (GRCm39) |
Y386H |
unknown |
Het |
| Col14a1 |
A |
G |
15: 55,308,012 (GRCm39) |
D1044G |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,233,357 (GRCm39) |
D888G |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dhrs7b |
T |
A |
11: 60,746,568 (GRCm39) |
L219Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,444,324 (GRCm39) |
P545S |
probably damaging |
Het |
| Dnajc24 |
A |
T |
2: 105,832,380 (GRCm39) |
M1K |
probably null |
Het |
| Dusp12 |
C |
T |
1: 170,702,095 (GRCm39) |
W301* |
probably null |
Het |
| Dyrk1a |
G |
T |
16: 94,492,575 (GRCm39) |
G603* |
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,498,452 (GRCm39) |
V403E |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,387,100 (GRCm39) |
E90G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,810,721 (GRCm39) |
S1303G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,118,895 (GRCm39) |
Y627N |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,493,625 (GRCm39) |
L22* |
probably null |
Het |
| Fcamr |
T |
A |
1: 130,742,375 (GRCm39) |
N587K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,939,193 (GRCm39) |
N946S |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,523,148 (GRCm39) |
I477N |
possibly damaging |
Het |
| Grifin |
C |
T |
5: 140,550,280 (GRCm39) |
A54T |
probably benign |
Het |
| Gtf2b |
A |
G |
3: 142,487,105 (GRCm39) |
I180M |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,559 (GRCm39) |
D378V |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,788 (GRCm39) |
E378G |
probably damaging |
Het |
| Khdc1a |
T |
C |
1: 21,420,623 (GRCm39) |
I81T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,917,322 (GRCm39) |
D617E |
probably damaging |
Het |
| Kifc3 |
T |
A |
8: 95,834,165 (GRCm39) |
|
probably null |
Het |
| Kirrel3 |
C |
T |
9: 34,931,419 (GRCm39) |
H403Y |
possibly damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,820 (GRCm39) |
V132I |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,730,031 (GRCm39) |
S3429P |
unknown |
Het |
| Lama1 |
T |
G |
17: 68,116,216 (GRCm39) |
L2361R |
|
Het |
| Lrp1b |
T |
C |
2: 40,587,570 (GRCm39) |
D3895G |
|
Het |
| Mcoln3 |
A |
C |
3: 145,830,546 (GRCm39) |
E92A |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 69,939,032 (GRCm39) |
M135T |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,835,204 (GRCm39) |
*820Q |
probably null |
Het |
| Ncoa7 |
A |
G |
10: 30,567,056 (GRCm39) |
S541P |
probably benign |
Het |
| Nup54 |
T |
C |
5: 92,578,952 (GRCm39) |
T33A |
unknown |
Het |
| Or10al2 |
C |
A |
17: 37,983,408 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or13a17 |
T |
G |
7: 140,271,484 (GRCm39) |
I222S |
probably damaging |
Het |
| Or1s2 |
T |
C |
19: 13,758,810 (GRCm39) |
V276A |
possibly damaging |
Het |
| Or4k42 |
T |
A |
2: 111,320,369 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51a5 |
T |
A |
7: 102,771,899 (GRCm39) |
I27F |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,826,414 (GRCm39) |
C18R |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,858 (GRCm39) |
E284G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,020,055 (GRCm39) |
W598L |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,847,543 (GRCm39) |
C49S |
probably damaging |
Het |
| Pramel11 |
T |
C |
4: 143,624,288 (GRCm39) |
M70V |
possibly damaging |
Het |
| Prdx1 |
T |
G |
4: 116,550,935 (GRCm39) |
D135E |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,849,903 (GRCm39) |
Y88F |
probably damaging |
Het |
| Rem2 |
C |
A |
14: 54,715,256 (GRCm39) |
H144Q |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,301,406 (GRCm39) |
D737G |
probably damaging |
Het |
| Srd5a3 |
C |
T |
5: 76,295,666 (GRCm39) |
Q119* |
probably null |
Het |
| Suclg2 |
G |
T |
6: 95,571,703 (GRCm39) |
Q120K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,161 (GRCm39) |
M1282K |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 51,063,720 (GRCm39) |
Q620L |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,709,590 (GRCm39) |
A91S |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,087,435 (GRCm39) |
F1184Y |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,762,339 (GRCm39) |
V321E |
possibly damaging |
Het |
| Trim5 |
C |
A |
7: 103,915,675 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,299 (GRCm39) |
Y382* |
probably null |
Het |
| Usp40 |
C |
T |
1: 87,909,852 (GRCm39) |
G534D |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,728,112 (GRCm39) |
H823Q |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,235,829 (GRCm39) |
M508L |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,449,351 (GRCm39) |
I296F |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,632,668 (GRCm39) |
S2563G |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,220,912 (GRCm39) |
F207L |
|
Het |
| Zan |
A |
G |
5: 137,405,295 (GRCm39) |
S3777P |
unknown |
Het |
| Zfp277 |
T |
C |
12: 40,365,880 (GRCm39) |
N530D |
possibly damaging |
Het |
| Zfp365 |
G |
A |
10: 67,745,749 (GRCm39) |
R10W |
probably damaging |
Het |
| Zfp384 |
A |
T |
6: 125,013,288 (GRCm39) |
H452L |
probably damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,374,487 (GRCm39) |
L509Q |
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 |
|
|
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'- AACAGAGTATCCTTTTCTGATTGTC -3'
(R):5'- CCAGCATTTGTTGATTTGTCAC -3'
Sequencing Primer
(F):5'- CTTTGGACTCAGCGATTAAGAGCAC -3'
(R):5'- GCATTTGTTGATTTGTCACAGATAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation