Incidental Mutation 'R9306:Atad2'
| ID |
705236 |
| 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 # |
R9306 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 57959994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1343
(Y1343*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038194
AA Change: Y1343*
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: Y1343*
| 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 null
Transcript: ENSMUST00000228783
AA Change: Y1019*
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam18 |
G |
A |
8: 25,136,420 (GRCm39) |
S367L |
possibly damaging |
Het |
| Alox12b |
A |
T |
11: 69,060,396 (GRCm39) |
I651F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,723,188 (GRCm39) |
K1543E |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,994,008 (GRCm39) |
I30V |
possibly damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,730,339 (GRCm39) |
Y169H |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,506,010 (GRCm39) |
T2380A |
unknown |
Het |
| Eno1b |
G |
A |
18: 48,180,922 (GRCm39) |
V367I |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,772,387 (GRCm39) |
E98G |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,100,280 (GRCm39) |
M458K |
probably benign |
Het |
| Galnt13 |
A |
T |
2: 54,823,569 (GRCm39) |
I382F |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,635 (GRCm39) |
T368A |
possibly damaging |
Het |
| Ism2 |
C |
T |
12: 87,333,826 (GRCm39) |
C73Y |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,807,056 (GRCm39) |
V264A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,358,884 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,119,599 (GRCm39) |
H1353Q |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,518,762 (GRCm39) |
C157S |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,391,149 (GRCm39) |
D91G |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,219,428 (GRCm39) |
D134E |
probably benign |
Het |
| Meaf6 |
A |
T |
4: 124,996,766 (GRCm39) |
T159S |
unknown |
Het |
| Moxd1 |
A |
G |
10: 24,128,824 (GRCm39) |
|
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,219,682 (GRCm39) |
E195V |
possibly damaging |
Het |
| Nox4 |
A |
T |
7: 86,896,781 (GRCm39) |
Q48L |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,677,407 (GRCm39) |
I290N |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,128 (GRCm39) |
W92R |
probably damaging |
Het |
| Or6c219 |
G |
A |
10: 129,781,289 (GRCm39) |
S99F |
probably damaging |
Het |
| Otop3 |
G |
T |
11: 115,237,248 (GRCm39) |
V571L |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,686,861 (GRCm39) |
H581R |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,492 (GRCm39) |
F340I |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,804 (GRCm39) |
G706D |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,250,353 (GRCm39) |
V202D |
probably damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,601 (GRCm39) |
T77M |
probably damaging |
Het |
| Phf11 |
T |
A |
14: 59,482,294 (GRCm39) |
D153V |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,740,360 (GRCm39) |
Q287L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,422,599 (GRCm39) |
T1598A |
probably benign |
Het |
| Slc27a6 |
C |
T |
18: 58,742,953 (GRCm39) |
T547I |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,430 (GRCm39) |
V282I |
possibly damaging |
Het |
| Sppl3 |
C |
A |
5: 115,212,922 (GRCm39) |
N50K |
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,846,781 (GRCm39) |
S60P |
possibly damaging |
Het |
| Tgtp2 |
G |
T |
11: 48,949,865 (GRCm39) |
Q236K |
probably benign |
Het |
| Timd5 |
A |
C |
11: 46,419,519 (GRCm39) |
M112L |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,713 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r11 |
C |
T |
5: 109,196,831 (GRCm39) |
C547Y |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,855,328 (GRCm39) |
P262S |
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 |
|
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'- CAAGGGGAGTGTAAAGTGTTTCTAG -3'
(R):5'- ATAACAGTTCCCTAAGCATTCAGAG -3'
Sequencing Primer
(F):5'- TTAATCCCAGCACTCTAGAGGTG -3'
(R):5'- CAGAGTTAAAAATCTTGTTGCAAGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation