Incidental Mutation 'R5886:Atad2'
ID |
456120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2
|
Ensembl Gene |
ENSMUSG00000022360 |
Gene Name |
ATPase family, AAA domain containing 2 |
Synonyms |
2610509G12Rik |
MMRRC Submission |
044088-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.356)
|
Stock # |
R5886 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 57961910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 887
(L887*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
AlphaFold |
Q8CDM1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038194
AA Change: L1211*
|
SMART Domains |
Protein: ENSMUSP00000043691 Gene: ENSMUSG00000022360 AA Change: L1211*
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: ENSMUST00000226526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226649
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228783
AA Change: L887*
|
Meta Mutation Damage Score |
0.9706 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
Validation Efficiency |
96% (78/81) |
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 |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,973,310 (GRCm39) |
E564G |
possibly damaging |
Het |
Akap1 |
A |
G |
11: 88,725,486 (GRCm39) |
|
probably null |
Het |
Akap5 |
T |
A |
12: 76,374,619 (GRCm39) |
V10E |
possibly damaging |
Het |
Brd10 |
T |
C |
19: 29,696,677 (GRCm39) |
I939V |
probably benign |
Het |
C1qbp |
A |
G |
11: 70,873,008 (GRCm39) |
V122A |
probably benign |
Het |
C1qtnf7 |
G |
A |
5: 43,772,998 (GRCm39) |
G92D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,249,651 (GRCm39) |
I219T |
probably damaging |
Het |
Capn12 |
A |
G |
7: 28,587,030 (GRCm39) |
N333S |
probably benign |
Het |
Ccdc154 |
C |
T |
17: 25,390,792 (GRCm39) |
T644I |
probably benign |
Het |
Cd200r1 |
T |
C |
16: 44,610,566 (GRCm39) |
S225P |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,499,402 (GRCm39) |
|
probably null |
Het |
Coq4 |
A |
T |
2: 29,680,626 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
T |
2: 13,324,834 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
A |
T |
17: 32,743,013 (GRCm39) |
S229C |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
D930007J09Rik |
C |
A |
13: 32,986,819 (GRCm39) |
A200E |
probably benign |
Het |
Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
Duoxa1 |
A |
T |
2: 122,134,291 (GRCm39) |
S276T |
possibly damaging |
Het |
Efcab15 |
A |
G |
11: 103,098,947 (GRCm39) |
|
probably null |
Het |
Efhb |
T |
C |
17: 53,758,582 (GRCm39) |
I351M |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,480,718 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
T |
8: 45,486,432 (GRCm39) |
T3329S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
A |
1: 59,597,409 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,799,375 (GRCm39) |
L124Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,923,150 (GRCm39) |
|
probably benign |
Het |
Hcrt |
G |
A |
11: 100,652,759 (GRCm39) |
A85V |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,310,088 (GRCm39) |
D776G |
probably damaging |
Het |
Hmgcr |
A |
T |
13: 96,796,691 (GRCm39) |
S200T |
probably damaging |
Het |
Krt40 |
C |
T |
11: 99,430,907 (GRCm39) |
A201T |
probably benign |
Het |
Lca5 |
G |
A |
9: 83,281,734 (GRCm39) |
A350V |
probably benign |
Het |
Lrig2 |
T |
A |
3: 104,370,014 (GRCm39) |
M515L |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,464 (GRCm39) |
D90G |
probably damaging |
Het |
Mfsd4a |
C |
T |
1: 131,995,465 (GRCm39) |
V56I |
probably damaging |
Het |
Mpi |
A |
G |
9: 57,455,745 (GRCm39) |
|
probably benign |
Het |
Mroh4 |
G |
T |
15: 74,478,296 (GRCm39) |
D935E |
possibly damaging |
Het |
Mtg1 |
G |
T |
7: 139,729,778 (GRCm39) |
|
probably null |
Het |
Nanos1 |
T |
A |
19: 60,745,268 (GRCm39) |
C189S |
probably damaging |
Het |
Naprt |
A |
C |
15: 75,763,324 (GRCm39) |
|
probably null |
Het |
Nubpl |
T |
A |
12: 52,228,092 (GRCm39) |
|
probably null |
Het |
Or10ad1b |
T |
C |
15: 98,124,672 (GRCm39) |
T285A |
possibly damaging |
Het |
Or10d4 |
G |
T |
9: 39,581,252 (GRCm39) |
V300L |
probably benign |
Het |
Or8g23 |
T |
A |
9: 38,971,678 (GRCm39) |
T95S |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,147 (GRCm39) |
S156P |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,399,436 (GRCm39) |
Y717N |
probably damaging |
Het |
Pakap |
T |
A |
4: 57,856,295 (GRCm39) |
D582E |
probably damaging |
Het |
Pnpla1 |
T |
C |
17: 29,095,837 (GRCm39) |
F86S |
possibly damaging |
Het |
Prlhr |
C |
T |
19: 60,456,014 (GRCm39) |
W184* |
probably null |
Het |
Rtp3 |
A |
G |
9: 110,816,204 (GRCm39) |
S116P |
probably damaging |
Het |
Sema3c |
T |
C |
5: 17,886,984 (GRCm39) |
I345T |
possibly damaging |
Het |
Skor2 |
T |
C |
18: 76,947,124 (GRCm39) |
L282P |
unknown |
Het |
Slc24a4 |
T |
C |
12: 102,226,674 (GRCm39) |
V468A |
probably damaging |
Het |
Slfn8 |
C |
T |
11: 82,894,160 (GRCm39) |
M826I |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,330,850 (GRCm39) |
D378G |
probably benign |
Het |
Thbs3 |
C |
A |
3: 89,127,470 (GRCm39) |
D370E |
probably damaging |
Het |
Tk1 |
CC |
GA |
11: 117,707,948 (GRCm39) |
|
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,572 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
T |
C |
18: 21,007,737 (GRCm39) |
Y126C |
probably damaging |
Het |
Trim35 |
C |
G |
14: 66,541,502 (GRCm39) |
L209V |
possibly damaging |
Het |
Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,708,179 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,035,502 (GRCm39) |
V1583A |
probably damaging |
Het |
Tuba5-ps |
A |
G |
1: 134,447,937 (GRCm39) |
|
noncoding transcript |
Het |
Tubgcp6 |
A |
T |
15: 88,987,450 (GRCm39) |
N1166K |
possibly damaging |
Het |
Usp54 |
C |
T |
14: 20,611,910 (GRCm39) |
D969N |
probably benign |
Het |
Vldlr |
C |
A |
19: 27,221,171 (GRCm39) |
S612R |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,641,926 (GRCm39) |
T2234A |
probably benign |
Het |
Vps39 |
A |
G |
2: 120,152,053 (GRCm39) |
|
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,920,146 (GRCm39) |
C120S |
probably benign |
Het |
Zfp37 |
A |
G |
4: 62,109,471 (GRCm39) |
F531S |
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 |
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'- GGATGCAATCTCCAGGGTATCC -3'
(R):5'- AGTCAAAGTGGCATGTAGGC -3'
Sequencing Primer
(F):5'- AGTTAGCTCTGTAGACCAGGC -3'
(R):5'- GCATGTAGGCACCAAAATAAAGC -3'
|
Posted On |
2017-02-15 |