Incidental Mutation 'R5685:Atad2'
| ID |
443313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R5685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57980194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 106
(V106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038194
AA Change: V430A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: V430A
| 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 |
noncoding transcript
Transcript: ENSMUST00000226507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227134
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228783
AA Change: V106A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,879,974 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,896,348 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
G |
T |
17: 31,317,260 (GRCm39) |
E191* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,218,250 (GRCm39) |
Y1263H |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,026 (GRCm39) |
L281* |
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,887,196 (GRCm39) |
N361D |
probably benign |
Het |
| Ap1g1 |
A |
T |
8: 110,564,415 (GRCm39) |
N320I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,746 (GRCm39) |
D208G |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,912,473 (GRCm39) |
T545A |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,415,026 (GRCm39) |
V2701I |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,814,061 (GRCm39) |
F186V |
probably damaging |
Het |
| Catsperg2 |
G |
A |
7: 29,400,613 (GRCm39) |
P247L |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,426,656 (GRCm39) |
Q1098K |
probably benign |
Het |
| Cxcr6 |
A |
G |
9: 123,639,811 (GRCm39) |
T271A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,374,091 (GRCm39) |
E579G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,421,932 (GRCm39) |
T2111A |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,397,586 (GRCm39) |
D229V |
possibly damaging |
Het |
| Gbp2b |
A |
C |
3: 142,313,919 (GRCm39) |
M400L |
probably benign |
Het |
| Gm1123 |
T |
A |
9: 98,891,486 (GRCm39) |
|
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,252,805 (GRCm39) |
H349R |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,691 (GRCm39) |
K188R |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,707,803 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
A |
T |
8: 71,305,374 (GRCm39) |
C322S |
probably damaging |
Het |
| Kdelr1 |
GTCTA |
G |
7: 45,531,041 (GRCm39) |
|
probably null |
Het |
| Kif23 |
T |
C |
9: 61,852,691 (GRCm39) |
T8A |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,687,504 (GRCm39) |
R2198* |
probably null |
Het |
| Mcl1 |
T |
G |
3: 95,567,109 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mrps11 |
A |
T |
7: 78,441,628 (GRCm39) |
T137S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,426,168 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nxt1 |
G |
T |
2: 148,517,673 (GRCm39) |
W138L |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,139 (GRCm39) |
T192A |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,709 (GRCm39) |
F220L |
probably benign |
Het |
| Or5t17 |
T |
A |
2: 86,832,621 (GRCm39) |
S103T |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,951,103 (GRCm39) |
P478H |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,285,746 (GRCm39) |
H352L |
probably benign |
Het |
| Pitpna |
T |
A |
11: 75,511,095 (GRCm39) |
F222I |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,877,310 (GRCm39) |
R552W |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,051,235 (GRCm39) |
R328H |
probably damaging |
Het |
| Pmaip1 |
C |
T |
18: 66,594,055 (GRCm39) |
T65I |
probably benign |
Het |
| Ppil4 |
T |
G |
10: 7,674,186 (GRCm39) |
I110S |
probably damaging |
Het |
| Prpf38a |
A |
G |
4: 108,427,351 (GRCm39) |
|
probably null |
Het |
| Psme4 |
G |
A |
11: 30,759,837 (GRCm39) |
G320D |
probably damaging |
Het |
| Rab17 |
C |
A |
1: 90,886,679 (GRCm39) |
R191L |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,222 (GRCm39) |
M222L |
possibly damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,602 (GRCm39) |
H111L |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,061,292 (GRCm39) |
Y2234H |
probably damaging |
Het |
| Slc2a8 |
T |
C |
2: 32,871,801 (GRCm39) |
I51V |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,549,085 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
C |
13: 77,231,598 (GRCm39) |
T594A |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,178,392 (GRCm39) |
|
probably null |
Het |
| Spata13 |
C |
T |
14: 60,928,652 (GRCm39) |
S70L |
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,986,592 (GRCm39) |
I188T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,535,803 (GRCm39) |
D4020G |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,868,611 (GRCm39) |
K255R |
possibly damaging |
Het |
| Tns2 |
G |
T |
15: 102,015,538 (GRCm39) |
A124S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,413,666 (GRCm38) |
W1045R |
probably damaging |
Het |
| Trav12-2 |
T |
C |
14: 53,854,122 (GRCm39) |
V32A |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,870,455 (GRCm39) |
R3198L |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
A |
17: 21,782,013 (GRCm39) |
S620R |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,044 (GRCm39) |
C378* |
probably null |
Het |
| Zfp638 |
C |
A |
6: 83,906,969 (GRCm39) |
P378H |
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 |
|
|
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 |
|
|
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'- CACTCAGGTTGCCAGGCTAT -3'
(R):5'- ACTATTGTTAATCAGTTGATGTGGG -3'
Sequencing Primer
(F):5'- AGTCTGATGGCTCACAACTG -3'
(R):5'- TGGGTTGATTATGAAGACATAGGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation