Incidental Mutation 'R9027:Atad2'
| ID |
686826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
068856-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R9027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57995628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 93
(D93G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038194
AA Change: D93G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: D93G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
C |
A |
5: 121,640,788 (GRCm39) |
E86* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,984,617 (GRCm39) |
I1967S |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,600 (GRCm39) |
V83A |
possibly damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,754,977 (GRCm39) |
R439S |
probably damaging |
Het |
| Arl1 |
A |
G |
10: 88,569,458 (GRCm39) |
I20V |
probably damaging |
Het |
| Btbd7 |
T |
G |
12: 102,804,838 (GRCm39) |
K67N |
probably damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,301 (GRCm39) |
N118S |
probably benign |
Het |
| Ccz1 |
A |
C |
5: 143,946,120 (GRCm39) |
|
probably benign |
Het |
| Cdk19 |
A |
G |
10: 40,355,728 (GRCm39) |
S479G |
unknown |
Het |
| Chrd |
A |
G |
16: 20,555,737 (GRCm39) |
T503A |
probably damaging |
Het |
| Clca4b |
G |
A |
3: 144,617,827 (GRCm39) |
R759* |
probably null |
Het |
| Cpa5 |
G |
T |
6: 30,612,604 (GRCm39) |
M1I |
probably null |
Het |
| Cr2 |
A |
T |
1: 194,834,029 (GRCm39) |
I920N |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,437,947 (GRCm39) |
Y430* |
probably null |
Het |
| Dars1 |
A |
T |
1: 128,296,163 (GRCm39) |
V390D |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,853,555 (GRCm39) |
S85P |
probably damaging |
Het |
| Ermardl1 |
A |
G |
17: 15,242,364 (GRCm39) |
E416G |
unknown |
Het |
| Fancm |
C |
A |
12: 65,122,605 (GRCm39) |
D42E |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,423,122 (GRCm39) |
Y192F |
possibly damaging |
Het |
| Gpr3 |
A |
T |
4: 132,938,209 (GRCm39) |
Y154* |
probably null |
Het |
| Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
| Ints5 |
C |
A |
19: 8,873,322 (GRCm39) |
P427Q |
possibly damaging |
Het |
| Jhy |
A |
T |
9: 40,828,823 (GRCm39) |
V361D |
probably benign |
Het |
| Klhl33 |
G |
A |
14: 51,130,322 (GRCm39) |
Q131* |
probably null |
Het |
| Lama2 |
A |
T |
10: 27,080,881 (GRCm39) |
C981S |
probably damaging |
Het |
| Mks1 |
C |
A |
11: 87,748,041 (GRCm39) |
L225I |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,055 (GRCm39) |
Y122N |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,343 (GRCm39) |
S402C |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,358 (GRCm39) |
I272T |
possibly damaging |
Het |
| Or4k50-ps1 |
A |
T |
2: 111,522,517 (GRCm39) |
Y218F |
unknown |
Het |
| Or51g2 |
T |
C |
7: 102,622,560 (GRCm39) |
D213G |
probably damaging |
Het |
| Pbx4 |
T |
A |
8: 70,316,999 (GRCm39) |
D85E |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,056,972 (GRCm39) |
E351* |
probably null |
Het |
| Rragd |
G |
A |
4: 32,996,083 (GRCm39) |
V143I |
probably damaging |
Het |
| Rsph14 |
A |
T |
10: 74,795,423 (GRCm39) |
M254K |
probably damaging |
Het |
| Selenoi |
C |
T |
5: 30,437,607 (GRCm39) |
|
probably benign |
Het |
| Six6 |
T |
C |
12: 72,986,935 (GRCm39) |
S36P |
|
Het |
| Slc12a8 |
T |
C |
16: 33,445,215 (GRCm39) |
S370P |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,432 (GRCm39) |
Y357H |
probably benign |
Het |
| Socs2 |
A |
T |
10: 95,248,948 (GRCm39) |
V55D |
probably damaging |
Het |
| Socs6 |
T |
C |
18: 88,888,852 (GRCm39) |
E21G |
probably benign |
Het |
| Spata31e4 |
C |
T |
13: 50,857,007 (GRCm39) |
Q882* |
probably null |
Het |
| Speg |
A |
T |
1: 75,365,076 (GRCm39) |
T486S |
possibly damaging |
Het |
| Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,165,473 (GRCm39) |
K82E |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,825,155 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,440 (GRCm39) |
Y1074C |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,028,748 (GRCm39) |
T476A |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,414,349 (GRCm39) |
S237P |
probably benign |
Het |
| Tbc1d5 |
C |
A |
17: 51,063,692 (GRCm39) |
M629I |
probably damaging |
Het |
| Tlr11 |
G |
A |
14: 50,598,749 (GRCm39) |
G245D |
probably damaging |
Het |
| Tspan4 |
T |
C |
7: 141,069,577 (GRCm39) |
V59A |
probably benign |
Het |
| Tulp4 |
T |
A |
17: 6,283,472 (GRCm39) |
V1167E |
possibly damaging |
Het |
| Usp42 |
G |
A |
5: 143,708,906 (GRCm39) |
T204M |
probably damaging |
Het |
| Vapb |
A |
G |
2: 173,617,948 (GRCm39) |
K147R |
possibly damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,422 (GRCm39) |
D32G |
probably benign |
Het |
| Vmn2r33 |
A |
G |
7: 7,554,168 (GRCm39) |
F795S |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,527 (GRCm39) |
N620K |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,643,626 (GRCm39) |
C2389F |
|
Het |
| Wdr81 |
T |
C |
11: 75,332,908 (GRCm39) |
E652G |
|
Het |
| Wdr81 |
A |
T |
11: 75,343,207 (GRCm39) |
S687T |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
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 |
|
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'- GTCTCTAACCTCCAAGTGCAC -3'
(R):5'- GCAGTTTCATAGCCTGTTCG -3'
Sequencing Primer
(F):5'- cacacacacacacacatc -3'
(R):5'- GCAGTTTCATAGCCTGTTCGAATAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation