Incidental Mutation 'R9079:Atad2'
| ID |
689916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R9079 (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 57989223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 212
(S212R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: S212R
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: S212R
| 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: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
T |
3: 97,112,816 (GRCm39) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,598,153 (GRCm39) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,906,197 (GRCm39) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,564,541 (GRCm39) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,781,859 (GRCm39) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,291,914 (GRCm39) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,003,177 (GRCm39) |
D549E |
unknown |
Het |
| Extl1 |
T |
A |
4: 134,089,975 (GRCm39) |
N378Y |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 3,998,388 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
C |
A |
3: 85,579,590 (GRCm39) |
G872* |
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 85,453,412 (GRCm39) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,272,502 (GRCm39) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,232,858 (GRCm39) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,923,190 (GRCm39) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,455,816 (GRCm39) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,898 (GRCm39) |
E158A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,277,738 (GRCm39) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,558,151 (GRCm39) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,593 (GRCm39) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,235,473 (GRCm39) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,867,308 (GRCm39) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,465,174 (GRCm39) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,383,033 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,430 (GRCm39) |
E440D |
possibly damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,989 (GRCm39) |
V255A |
probably damaging |
Het |
| Or6c207 |
A |
T |
10: 129,104,466 (GRCm39) |
M242K |
possibly damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,731 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,750,769 (GRCm39) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 108,920,644 (GRCm39) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,039,053 (GRCm39) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,537 (GRCm39) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,393 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,915,637 (GRCm39) |
R1069H |
probably benign |
Het |
| Ro60 |
A |
C |
1: 143,641,519 (GRCm39) |
L314R |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,787,718 (GRCm39) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,484,241 (GRCm39) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,042,150 (GRCm39) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,677,454 (GRCm39) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm39) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,950,966 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,733,023 (GRCm39) |
I2953V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,632,734 (GRCm39) |
F14107L |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,895,120 (GRCm39) |
|
probably benign |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,979 (GRCm39) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,602 (GRCm39) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,640 (GRCm39) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,076,403 (GRCm39) |
W45R |
|
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 |
|
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'- CCAACAAAACAGAGTATCCTTTTCTG -3'
(R):5'- ACATCTCATTTAGTGCATGATCTACTC -3'
Sequencing Primer
(F):5'- CTTTGGACTCAGCGATTAAGAGCAC -3'
(R):5'- CATGAGTAATAATCACTTTGTCCAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation