Incidental Mutation 'R1855:Atad2'
ID |
206056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2
|
Ensembl Gene |
ENSMUSG00000022360 |
Gene Name |
ATPase family, AAA domain containing 2 |
Synonyms |
2610509G12Rik |
MMRRC Submission |
039879-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R1855 (G1)
|
Quality Score |
153 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57960685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 971
(P971L)
|
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: P1295L
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043691 Gene: ENSMUSG00000022360 AA Change: P1295L
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: ENSMUST00000226649
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228783
AA Change: P971L
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.2031 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
97% (72/74) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,818,195 (GRCm39) |
L285Q |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,262,380 (GRCm39) |
L1994P |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,878,350 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,385 (GRCm39) |
E574G |
probably benign |
Het |
Ankrd1 |
T |
C |
19: 36,096,635 (GRCm39) |
K64R |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,339,523 (GRCm39) |
I163T |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,494,018 (GRCm39) |
Q151L |
probably benign |
Het |
C1s1 |
A |
C |
6: 124,511,315 (GRCm39) |
|
probably null |
Het |
Ccdc150 |
T |
C |
1: 54,407,069 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,110,351 (GRCm39) |
I311N |
probably damaging |
Het |
Chad |
T |
A |
11: 94,456,303 (GRCm39) |
L127H |
probably damaging |
Het |
Clasp1 |
G |
A |
1: 118,436,624 (GRCm39) |
A303T |
probably damaging |
Het |
Clptm1 |
A |
G |
7: 19,372,134 (GRCm39) |
V234A |
probably benign |
Het |
Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
Col24a1 |
G |
A |
3: 145,164,895 (GRCm39) |
G1033D |
probably damaging |
Het |
Csnk1a1 |
T |
A |
18: 61,708,498 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,378,412 (GRCm39) |
I1475L |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,411,815 (GRCm39) |
V3728A |
possibly damaging |
Het |
Dock9 |
C |
A |
14: 121,877,571 (GRCm39) |
V391F |
probably damaging |
Het |
Ehmt2 |
A |
T |
17: 35,129,752 (GRCm39) |
I949F |
probably damaging |
Het |
Eif4g1 |
C |
A |
16: 20,505,911 (GRCm39) |
T1025K |
possibly damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,943,295 (GRCm39) |
M423L |
probably damaging |
Het |
Etnppl |
A |
T |
3: 130,414,371 (GRCm39) |
I89F |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbln7 |
A |
G |
2: 128,735,755 (GRCm39) |
T248A |
possibly damaging |
Het |
Galnt9 |
C |
T |
5: 110,763,390 (GRCm39) |
T465M |
probably damaging |
Het |
Grcc10 |
A |
G |
6: 124,717,541 (GRCm39) |
V57A |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,298,708 (GRCm39) |
M614K |
possibly damaging |
Het |
Itch |
C |
T |
2: 155,014,374 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,298,112 (GRCm39) |
A167S |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,106,590 (GRCm39) |
R1348C |
probably damaging |
Het |
Kif17 |
T |
C |
4: 138,015,582 (GRCm39) |
L577P |
probably benign |
Het |
Krt25 |
A |
T |
11: 99,209,141 (GRCm39) |
L258Q |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,281,218 (GRCm39) |
T356A |
probably benign |
Het |
Mical2 |
G |
A |
7: 111,944,489 (GRCm39) |
A940T |
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,914,667 (GRCm39) |
E81G |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,509 (GRCm39) |
V447A |
probably benign |
Het |
Mtor |
C |
A |
4: 148,637,546 (GRCm39) |
N2502K |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,799,936 (GRCm39) |
D966N |
probably benign |
Het |
Oip5 |
C |
A |
2: 119,442,271 (GRCm39) |
K214N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,266 (GRCm39) |
F103Y |
possibly damaging |
Het |
Pabir2 |
T |
A |
X: 52,342,933 (GRCm39) |
Q201H |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,929,429 (GRCm39) |
S585T |
probably benign |
Het |
Pard3 |
T |
A |
8: 128,174,293 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,534,735 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,492,556 (GRCm39) |
Y939C |
possibly damaging |
Het |
Pde1a |
A |
G |
2: 79,728,408 (GRCm39) |
|
probably null |
Het |
Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,297,957 (GRCm39) |
T1562K |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,352,802 (GRCm39) |
M115K |
probably damaging |
Het |
Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,754,993 (GRCm39) |
W85R |
probably damaging |
Het |
Rnf123 |
C |
A |
9: 107,938,990 (GRCm39) |
R826L |
probably damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,805,699 (GRCm39) |
D150G |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,319,159 (GRCm39) |
|
probably benign |
Het |
Spata22 |
A |
G |
11: 73,231,385 (GRCm39) |
D213G |
probably benign |
Het |
St6galnac2 |
T |
A |
11: 116,581,141 (GRCm39) |
R60S |
probably benign |
Het |
Stk32c |
A |
G |
7: 138,701,363 (GRCm39) |
F263S |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,123,366 (GRCm39) |
I104V |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,437,702 (GRCm39) |
E158G |
possibly damaging |
Het |
Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
Trim25 |
C |
T |
11: 88,906,407 (GRCm39) |
T410I |
probably benign |
Het |
Usp18 |
T |
A |
6: 121,239,076 (GRCm39) |
C212S |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,588 (GRCm39) |
Y169C |
probably damaging |
Het |
Wdr33 |
A |
T |
18: 32,039,909 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,159,002 (GRCm39) |
Y597H |
probably benign |
Het |
Yy1 |
CGGG |
CGGGGGGGGG |
12: 108,759,916 (GRCm39) |
|
probably benign |
Het |
Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
Zfp566 |
T |
G |
7: 29,777,927 (GRCm39) |
S85R |
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 |
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 |
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'- CCCAGAAGAGCTTTTCCTGAAG -3'
(R):5'- TGCCAGTTTCAAAGTACCTGTC -3'
Sequencing Primer
(F):5'- GGAGAAGGAATTTAAGAGGAATCCC -3'
(R):5'- GATTTTACTAGGTAGCCTCAACTGG -3'
|
Posted On |
2014-06-23 |