Incidental Mutation 'R6209:Atad2'
ID |
503363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2
|
Ensembl Gene |
ENSMUSG00000022360 |
Gene Name |
ATPase family, AAA domain containing 2 |
Synonyms |
2610509G12Rik |
MMRRC Submission |
044343-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R6209 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57981811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 18
(S18P)
|
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: S342P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000043691 Gene: ENSMUSG00000022360 AA Change: S342P
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: ENSMUST00000227134
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228783
AA Change: S18P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
T |
A |
1: 38,232,670 (GRCm39) |
M990L |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,845 (GRCm39) |
Y429* |
probably null |
Het |
Ahnak |
A |
T |
19: 8,989,930 (GRCm39) |
K3738M |
probably damaging |
Het |
Amn |
G |
T |
12: 111,241,845 (GRCm39) |
V304L |
probably damaging |
Het |
Ap3s1 |
G |
A |
18: 46,912,318 (GRCm39) |
V113I |
probably benign |
Het |
Arhgef28 |
A |
T |
13: 98,065,917 (GRCm39) |
|
probably null |
Het |
Bhmt1b |
C |
T |
18: 87,775,341 (GRCm39) |
A288V |
probably damaging |
Het |
C4b |
T |
A |
17: 34,960,061 (GRCm39) |
E305V |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,726,095 (GRCm39) |
S1401P |
possibly damaging |
Het |
Cblc |
A |
T |
7: 19,519,230 (GRCm39) |
V366D |
possibly damaging |
Het |
Cdk17 |
A |
T |
10: 93,044,093 (GRCm39) |
T11S |
probably benign |
Het |
Cenpc1 |
A |
G |
5: 86,181,509 (GRCm39) |
S619P |
probably benign |
Het |
Clec4d |
T |
G |
6: 123,247,488 (GRCm39) |
|
probably null |
Het |
Disp2 |
T |
C |
2: 118,617,402 (GRCm39) |
L132P |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,165,677 (GRCm39) |
K528R |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,804,069 (GRCm39) |
V262A |
probably damaging |
Het |
Galnt17 |
T |
A |
5: 131,110,434 (GRCm39) |
M302L |
probably benign |
Het |
Gpn3 |
T |
C |
5: 122,520,175 (GRCm39) |
I243T |
probably benign |
Het |
Gpr160 |
T |
C |
3: 30,950,141 (GRCm39) |
V71A |
possibly damaging |
Het |
Gramd1b |
G |
T |
9: 40,244,946 (GRCm39) |
A154D |
probably damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H60b |
C |
A |
10: 22,163,043 (GRCm39) |
T206N |
probably benign |
Het |
Hydin |
A |
T |
8: 111,320,434 (GRCm39) |
I4493F |
probably benign |
Het |
Il19 |
C |
T |
1: 130,866,852 (GRCm39) |
E43K |
possibly damaging |
Het |
Ints2 |
A |
G |
11: 86,115,884 (GRCm39) |
Y782H |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,851,306 (GRCm39) |
I62N |
probably damaging |
Het |
Jph1 |
C |
A |
1: 17,167,810 (GRCm39) |
D7Y |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,726,852 (GRCm39) |
I62V |
probably damaging |
Het |
Map7 |
G |
A |
10: 20,152,026 (GRCm39) |
|
probably null |
Het |
Matk |
T |
G |
10: 81,095,422 (GRCm39) |
W81G |
probably damaging |
Het |
Matn4 |
T |
C |
2: 164,242,735 (GRCm39) |
Y121C |
probably damaging |
Het |
Mical2 |
G |
A |
7: 111,923,293 (GRCm39) |
|
probably null |
Het |
Miga2 |
T |
G |
2: 30,271,674 (GRCm39) |
Y399D |
probably damaging |
Het |
Mocos |
A |
T |
18: 24,799,672 (GRCm39) |
E302V |
probably benign |
Het |
Mrpl11 |
C |
T |
19: 5,014,743 (GRCm39) |
A172V |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,209,001 (GRCm39) |
Y108D |
probably damaging |
Het |
Mtr |
A |
G |
13: 12,205,278 (GRCm39) |
S1061P |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,026,155 (GRCm39) |
K1309* |
probably null |
Het |
Myom2 |
G |
A |
8: 15,154,173 (GRCm39) |
V704I |
possibly damaging |
Het |
Nars2 |
A |
G |
7: 96,706,728 (GRCm39) |
H413R |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,355,946 (GRCm39) |
L619P |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,362,817 (GRCm39) |
N983S |
probably damaging |
Het |
Nup210 |
A |
G |
6: 91,002,337 (GRCm39) |
V717A |
probably benign |
Het |
P4ha3 |
G |
T |
7: 99,966,292 (GRCm39) |
G479V |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,525,028 (GRCm39) |
S59P |
probably damaging |
Het |
Phyhip |
G |
A |
14: 70,700,798 (GRCm39) |
S95N |
probably benign |
Het |
Ppat |
A |
G |
5: 77,065,993 (GRCm39) |
V375A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,456 (GRCm39) |
E3086G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,453,599 (GRCm39) |
E98G |
probably damaging |
Het |
Rabgap1 |
A |
T |
2: 37,453,610 (GRCm39) |
K1013* |
probably null |
Het |
Retreg3 |
C |
T |
11: 101,010,526 (GRCm39) |
G27D |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sema6a |
A |
T |
18: 47,431,369 (GRCm39) |
|
probably null |
Het |
Septin10 |
T |
C |
10: 59,006,670 (GRCm39) |
E349G |
probably damaging |
Het |
Serpina1c |
A |
G |
12: 103,863,429 (GRCm39) |
V257A |
probably damaging |
Het |
Sgpp2 |
T |
A |
1: 78,367,119 (GRCm39) |
M84K |
probably damaging |
Het |
Shoc1 |
A |
G |
4: 59,043,869 (GRCm39) |
*1482R |
probably null |
Het |
Skint11 |
A |
G |
4: 114,101,907 (GRCm39) |
S116G |
possibly damaging |
Het |
Slc2a5 |
G |
A |
4: 150,227,557 (GRCm39) |
V459I |
probably benign |
Het |
Smarca2 |
T |
G |
19: 26,748,404 (GRCm39) |
Y126* |
probably null |
Het |
Stab2 |
T |
G |
10: 86,758,867 (GRCm39) |
N1024H |
possibly damaging |
Het |
Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
Svep1 |
A |
C |
4: 58,128,869 (GRCm39) |
F609L |
probably benign |
Het |
Tbc1d2 |
G |
A |
4: 46,614,068 (GRCm39) |
T671I |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,855,697 (GRCm39) |
I82T |
probably damaging |
Het |
Tmem213 |
G |
T |
6: 38,092,517 (GRCm39) |
C83F |
probably damaging |
Het |
Topaz1 |
G |
A |
9: 122,579,570 (GRCm39) |
D827N |
possibly damaging |
Het |
Trappc10 |
C |
A |
10: 78,050,646 (GRCm39) |
G265V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,808 (GRCm39) |
S26066P |
probably damaging |
Het |
Zfp292 |
G |
T |
4: 34,809,442 (GRCm39) |
Q1201K |
probably benign |
Het |
Zfp354a |
T |
A |
11: 50,951,815 (GRCm39) |
|
probably null |
Het |
Zfp418 |
T |
C |
7: 7,185,096 (GRCm39) |
V353A |
possibly damaging |
Het |
Zfp444 |
G |
A |
7: 6,192,948 (GRCm39) |
|
probably benign |
Het |
Zfp503 |
C |
A |
14: 22,035,778 (GRCm39) |
Q379H |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,462 (GRCm39) |
K764E |
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 |
|
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 |
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'- TCACCGTAGAACTCATCCATTC -3'
(R):5'- TTCTCAAAACCCTAGCGATCATTTG -3'
Sequencing Primer
(F):5'- TGTTGAGATCAGGCTTACCAC -3'
(R):5'- CAAAACCCTAGCGATCATTTGTATTG -3'
|
Posted On |
2018-02-27 |