Incidental Mutation 'IGL00088:Atad2b'
| ID |
1096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5074593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1051
(R1051G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045664
AA Change: R1051G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R1051G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
278 |
N/A |
INTRINSIC |
|
AAA
|
432 |
573 |
4.56e-20 |
SMART |
|
SCOP:d1e32a2
|
771 |
912 |
3e-4 |
SMART |
|
BROMO
|
958 |
1070 |
4.24e-20 |
SMART |
|
low complexity region
|
1135 |
1144 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1253 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,798,512 (GRCm39) |
|
probably benign |
Het |
| Anpep |
A |
G |
7: 79,475,484 (GRCm39) |
V879A |
possibly damaging |
Het |
| Asb13 |
T |
G |
13: 3,693,476 (GRCm39) |
V78G |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| C1ql2 |
G |
T |
1: 120,269,399 (GRCm39) |
G185C |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,829 (GRCm39) |
S745P |
possibly damaging |
Het |
| Col19a1 |
A |
T |
1: 24,600,387 (GRCm39) |
S52T |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,493,685 (GRCm39) |
G1418V |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,760,388 (GRCm39) |
D677N |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,392,079 (GRCm39) |
N125I |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,854,723 (GRCm39) |
M68L |
probably benign |
Het |
| Dclk2 |
T |
A |
3: 86,706,397 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,308,988 (GRCm39) |
D1921G |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,905,667 (GRCm39) |
G4104S |
probably damaging |
Het |
| Echdc2 |
T |
C |
4: 108,036,108 (GRCm39) |
I273T |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,330 (GRCm39) |
K596E |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,029,663 (GRCm39) |
D108V |
probably null |
Het |
| Fam135b |
A |
G |
15: 71,322,343 (GRCm39) |
L1274P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,639 (GRCm39) |
H2228Q |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,128,502 (GRCm39) |
H1341Y |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,036,840 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
C |
19: 6,917,072 (GRCm39) |
V139G |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,197,749 (GRCm39) |
|
probably null |
Het |
| Irak2 |
A |
T |
6: 113,655,636 (GRCm39) |
N285Y |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,387,884 (GRCm39) |
C566Y |
probably benign |
Het |
| Klhl29 |
G |
A |
12: 5,190,705 (GRCm39) |
P97S |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,941,591 (GRCm39) |
|
probably benign |
Het |
| Lhx6 |
G |
A |
2: 35,981,728 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,723,651 (GRCm39) |
L2529P |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,345,826 (GRCm39) |
V19D |
probably damaging |
Het |
| Ncbp3 |
A |
T |
11: 72,964,355 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,692,168 (GRCm39) |
V530I |
probably benign |
Het |
| Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
| Nnmt |
A |
T |
9: 48,503,224 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
T |
A |
14: 60,480,026 (GRCm39) |
I207L |
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,808 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,578 (GRCm39) |
M197K |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,213 (GRCm39) |
E264K |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,510 (GRCm39) |
N741K |
probably damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,833 (GRCm39) |
C264S |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,091,099 (GRCm39) |
N276S |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,100 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,307 (GRCm39) |
K121N |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,534,003 (GRCm39) |
|
probably benign |
Het |
| Rad51d |
T |
C |
11: 82,780,572 (GRCm39) |
D70G |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,591,536 (GRCm39) |
A484T |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,762 (GRCm39) |
S149T |
probably benign |
Het |
| Rpl13a |
C |
A |
7: 44,776,495 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
C |
9: 119,501,292 (GRCm39) |
Y164C |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,784 (GRCm39) |
I1878V |
probably benign |
Het |
| Sgcg |
T |
A |
14: 61,477,796 (GRCm39) |
R98* |
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,274 (GRCm39) |
I35F |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,638 (GRCm39) |
F270S |
possibly damaging |
Het |
| Traip |
C |
T |
9: 107,847,749 (GRCm39) |
R391W |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,398 (GRCm39) |
N251D |
probably damaging |
Het |
| Trmt2a |
T |
A |
16: 18,067,351 (GRCm39) |
V8D |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,964,512 (GRCm39) |
E221G |
probably damaging |
Het |
| Ubr3 |
A |
C |
2: 69,819,154 (GRCm39) |
I9L |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,702,897 (GRCm39) |
S575P |
probably benign |
Het |
| Vmn2r52 |
G |
T |
7: 9,903,023 (GRCm39) |
H468Q |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,488 (GRCm39) |
T776S |
possibly damaging |
Het |
|
| Other mutations in Atad2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Atad2b
|
APN |
12 |
5,015,837 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01011:Atad2b
|
APN |
12 |
5,015,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01092:Atad2b
|
APN |
12 |
5,067,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01604:Atad2b
|
APN |
12 |
5,015,837 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01924:Atad2b
|
APN |
12 |
5,084,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Atad2b
|
APN |
12 |
5,068,056 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02397:Atad2b
|
APN |
12 |
5,024,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Atad2b
|
APN |
12 |
4,991,972 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02517:Atad2b
|
APN |
12 |
5,068,037 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02726:Atad2b
|
APN |
12 |
5,024,003 (GRCm39) |
nonsense |
probably null |
|
|
IGL02896:Atad2b
|
APN |
12 |
5,008,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03227:Atad2b
|
APN |
12 |
5,056,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Atad2b
|
APN |
12 |
5,074,628 (GRCm39) |
missense |
probably benign |
0.24 |
|
Plyers
|
UTSW |
12 |
5,023,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Smidge
|
UTSW |
12 |
5,040,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tensor
|
UTSW |
12 |
5,007,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Traction
|
UTSW |
12 |
5,077,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
Vice
|
UTSW |
12 |
5,068,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Atad2b
|
UTSW |
12 |
5,004,536 (GRCm39) |
splice site |
probably benign |
|
|
P0038:Atad2b
|
UTSW |
12 |
5,004,536 (GRCm39) |
splice site |
probably benign |
|
|
PIT4418001:Atad2b
|
UTSW |
12 |
5,074,587 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4431001:Atad2b
|
UTSW |
12 |
5,081,795 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0006:Atad2b
|
UTSW |
12 |
4,992,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0006:Atad2b
|
UTSW |
12 |
4,992,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0124:Atad2b
|
UTSW |
12 |
5,002,676 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0462:Atad2b
|
UTSW |
12 |
4,991,973 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0483:Atad2b
|
UTSW |
12 |
4,995,035 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Atad2b
|
UTSW |
12 |
4,987,401 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0894:Atad2b
|
UTSW |
12 |
5,015,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Atad2b
|
UTSW |
12 |
5,074,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Atad2b
|
UTSW |
12 |
5,056,593 (GRCm39) |
splice site |
probably benign |
|
|
R0973:Atad2b
|
UTSW |
12 |
5,081,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1306:Atad2b
|
UTSW |
12 |
5,024,239 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1530:Atad2b
|
UTSW |
12 |
4,992,018 (GRCm39) |
nonsense |
probably null |
|
|
R1678:Atad2b
|
UTSW |
12 |
5,015,899 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1689:Atad2b
|
UTSW |
12 |
5,084,575 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Atad2b
|
UTSW |
12 |
5,024,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1996:Atad2b
|
UTSW |
12 |
5,040,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2233:Atad2b
|
UTSW |
12 |
5,056,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Atad2b
|
UTSW |
12 |
5,056,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Atad2b
|
UTSW |
12 |
4,992,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3161:Atad2b
|
UTSW |
12 |
4,989,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3162:Atad2b
|
UTSW |
12 |
4,989,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3162:Atad2b
|
UTSW |
12 |
4,989,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3508:Atad2b
|
UTSW |
12 |
5,000,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4239:Atad2b
|
UTSW |
12 |
5,035,710 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4401:Atad2b
|
UTSW |
12 |
4,990,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4558:Atad2b
|
UTSW |
12 |
4,993,223 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4559:Atad2b
|
UTSW |
12 |
4,993,223 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4573:Atad2b
|
UTSW |
12 |
5,004,663 (GRCm39) |
splice site |
probably null |
|
|
R4639:Atad2b
|
UTSW |
12 |
5,068,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Atad2b
|
UTSW |
12 |
4,994,901 (GRCm39) |
splice site |
probably null |
|
|
R4850:Atad2b
|
UTSW |
12 |
4,993,251 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4851:Atad2b
|
UTSW |
12 |
4,993,251 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4979:Atad2b
|
UTSW |
12 |
5,084,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Atad2b
|
UTSW |
12 |
4,987,534 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5305:Atad2b
|
UTSW |
12 |
5,015,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Atad2b
|
UTSW |
12 |
4,990,098 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5627:Atad2b
|
UTSW |
12 |
4,967,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5754:Atad2b
|
UTSW |
12 |
5,060,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6163:Atad2b
|
UTSW |
12 |
5,004,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6371:Atad2b
|
UTSW |
12 |
5,023,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Atad2b
|
UTSW |
12 |
5,068,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Atad2b
|
UTSW |
12 |
5,007,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Atad2b
|
UTSW |
12 |
5,002,642 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6546:Atad2b
|
UTSW |
12 |
5,040,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Atad2b
|
UTSW |
12 |
5,074,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Atad2b
|
UTSW |
12 |
5,067,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Atad2b
|
UTSW |
12 |
5,077,105 (GRCm39) |
nonsense |
probably null |
|
|
R7405:Atad2b
|
UTSW |
12 |
4,993,232 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7460:Atad2b
|
UTSW |
12 |
5,002,660 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7568:Atad2b
|
UTSW |
12 |
5,060,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7593:Atad2b
|
UTSW |
12 |
5,081,726 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7648:Atad2b
|
UTSW |
12 |
5,077,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8253:Atad2b
|
UTSW |
12 |
5,024,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8253:Atad2b
|
UTSW |
12 |
5,024,159 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8708:Atad2b
|
UTSW |
12 |
5,011,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Atad2b
|
UTSW |
12 |
5,064,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8948:Atad2b
|
UTSW |
12 |
5,041,012 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8976:Atad2b
|
UTSW |
12 |
4,967,923 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9052:Atad2b
|
UTSW |
12 |
5,015,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:Atad2b
|
UTSW |
12 |
5,068,102 (GRCm39) |
nonsense |
probably null |
|
|
R9134:Atad2b
|
UTSW |
12 |
5,060,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9450:Atad2b
|
UTSW |
12 |
5,063,859 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9453:Atad2b
|
UTSW |
12 |
5,081,578 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9494:Atad2b
|
UTSW |
12 |
5,081,852 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9634:Atad2b
|
UTSW |
12 |
5,060,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Atad2b
|
UTSW |
12 |
5,082,064 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation