Incidental Mutation 'R9161:Atad2'
| ID |
695719 |
| 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: 0.299)
|
| Stock # |
R9161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57989185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 225
(I225N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038194
AA Change: I225N
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: I225N
| 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 |
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
A |
8: 13,272,270 (GRCm39) |
N1496I |
probably damaging |
Het |
| Arglu1 |
T |
C |
8: 8,733,941 (GRCm39) |
E125G |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,777,470 (GRCm39) |
F173S |
probably damaging |
Het |
| BC024063 |
T |
A |
10: 81,945,044 (GRCm39) |
H221Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,128,387 (GRCm39) |
K175N |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdh24 |
A |
T |
14: 54,876,097 (GRCm39) |
Y182N |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,851,120 (GRCm39) |
L194P |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,408,574 (GRCm39) |
R1327* |
probably null |
Het |
| Ckap5 |
A |
T |
2: 91,445,653 (GRCm39) |
M1797L |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,474,651 (GRCm39) |
N895I |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cotl1 |
G |
T |
8: 120,549,456 (GRCm39) |
D85E |
probably benign |
Het |
| Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,625,023 (GRCm39) |
K3817E |
probably benign |
Het |
| Ehd3 |
A |
T |
17: 74,134,480 (GRCm39) |
R280* |
probably null |
Het |
| Erp29 |
T |
C |
5: 121,583,146 (GRCm39) |
E260G |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,334,417 (GRCm39) |
R926W |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,192,270 (GRCm39) |
N1413S |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,251,727 (GRCm39) |
V262A |
probably damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,187,199 (GRCm39) |
D164G |
probably damaging |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Get1 |
A |
T |
16: 95,953,139 (GRCm39) |
R77W |
probably damaging |
Het |
| Gon4l |
A |
G |
3: 88,808,955 (GRCm39) |
N1733S |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,242,758 (GRCm39) |
T562A |
probably benign |
Het |
| Inha |
A |
G |
1: 75,484,144 (GRCm39) |
I85V |
probably damaging |
Het |
| Kif28 |
A |
C |
1: 179,526,244 (GRCm39) |
V897G |
probably benign |
Het |
| Map1s |
G |
A |
8: 71,366,250 (GRCm39) |
R385H |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,477,503 (GRCm39) |
V1750A |
possibly damaging |
Het |
| Mbd1 |
C |
T |
18: 74,407,792 (GRCm39) |
P273L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,352,172 (GRCm39) |
T1226A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,353,026 (GRCm39) |
C791S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,213,274 (GRCm39) |
H883P |
probably damaging |
Het |
| Nrip3 |
C |
T |
7: 109,365,777 (GRCm39) |
R91H |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,038 (GRCm39) |
V82M |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,952,989 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,699,725 (GRCm39) |
|
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,905,816 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,231 (GRCm39) |
T153A |
probably benign |
Het |
| Pdgfrb |
T |
G |
18: 61,197,053 (GRCm39) |
L163R |
probably damaging |
Het |
| Pik3ip1 |
G |
T |
11: 3,281,945 (GRCm39) |
R34L |
possibly damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,245 (GRCm39) |
F205S |
possibly damaging |
Het |
| Pttg1ip |
A |
C |
10: 77,425,487 (GRCm39) |
N60T |
probably benign |
Het |
| Rab3ip |
C |
T |
10: 116,750,066 (GRCm39) |
E356K |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,076,682 (GRCm39) |
N249D |
probably benign |
Het |
| Rd3l |
T |
C |
12: 111,946,753 (GRCm39) |
K8E |
probably damaging |
Het |
| Rnf32 |
A |
G |
5: 29,408,058 (GRCm39) |
K96E |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
A |
G |
5: 31,685,474 (GRCm39) |
K251E |
|
Het |
| Spink5 |
T |
A |
18: 44,147,986 (GRCm39) |
N875K |
probably damaging |
Het |
| Taf6 |
G |
T |
5: 138,178,160 (GRCm39) |
A447D |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,989 (GRCm39) |
I259F |
probably damaging |
Het |
| Tcap |
G |
T |
11: 98,275,256 (GRCm39) |
R130L |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,266,040 (GRCm39) |
E293G |
|
Het |
| Vmn1r20 |
C |
A |
6: 57,408,759 (GRCm39) |
F28L |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,864 (GRCm39) |
D308E |
|
Het |
| Vmn2r69 |
T |
A |
7: 85,056,177 (GRCm39) |
I654F |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,261,509 (GRCm39) |
V52L |
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 |
|
|
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 |
|
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'- GTCCAGCATTTGTTGATTTGTCAC -3'
Sequencing Primer
(F):5'- CTTTGGACTCAGCGATTAAGAGCAC -3'
(R):5'- GCATTTGTTGATTTGTCACAGATAAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation