Incidental Mutation 'R0483:Atad2b'
ID |
42142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2b
|
Ensembl Gene |
ENSMUSG00000052812 |
Gene Name |
ATPase family, AAA domain containing 2B |
Synonyms |
1110014E10Rik, D530031C13Rik |
MMRRC Submission |
038683-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 4995035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
AlphaFold |
E9Q166 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045664
|
SMART Domains |
Protein: ENSMUSP00000047445 Gene: ENSMUSG00000052812
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219187
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
99% (89/90) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500009L16Rik |
G |
A |
10: 83,595,502 (GRCm39) |
|
probably benign |
Het |
1700048O20Rik |
A |
T |
9: 121,769,769 (GRCm39) |
|
noncoding transcript |
Het |
AA986860 |
A |
G |
1: 130,671,562 (GRCm39) |
R595G |
probably damaging |
Het |
Acrbp |
C |
A |
6: 125,031,759 (GRCm39) |
F353L |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,251,452 (GRCm39) |
Q445L |
probably benign |
Het |
Adgrg5 |
A |
G |
8: 95,660,136 (GRCm39) |
D26G |
possibly damaging |
Het |
Atg2a |
G |
T |
19: 6,306,631 (GRCm39) |
G1439C |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,306,632 (GRCm39) |
G1439V |
probably benign |
Het |
B3galt1 |
G |
A |
2: 67,948,932 (GRCm39) |
V216I |
probably benign |
Het |
Bmerb1 |
T |
C |
16: 13,913,803 (GRCm39) |
*113R |
probably null |
Het |
C2cd2 |
A |
G |
16: 97,660,788 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,564,025 (GRCm39) |
V884M |
probably damaging |
Het |
Cers5 |
C |
A |
15: 99,643,795 (GRCm39) |
C22F |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,924,307 (GRCm39) |
C14F |
probably benign |
Het |
Cntn3 |
G |
T |
6: 102,180,927 (GRCm39) |
P756Q |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,286,423 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,693,777 (GRCm39) |
|
probably null |
Het |
Cox5b |
G |
A |
1: 36,731,636 (GRCm39) |
|
probably null |
Het |
Cwc27 |
C |
A |
13: 104,947,724 (GRCm39) |
|
probably null |
Het |
Cyp27b1 |
A |
C |
10: 126,886,026 (GRCm39) |
M260L |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,735,310 (GRCm39) |
N465K |
probably benign |
Het |
Depdc1b |
T |
C |
13: 108,510,382 (GRCm39) |
V298A |
probably benign |
Het |
Dnaaf1 |
A |
G |
8: 120,317,405 (GRCm39) |
I311M |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,937,950 (GRCm39) |
N3372S |
probably benign |
Het |
Dus4l |
G |
A |
12: 31,691,656 (GRCm39) |
T184I |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,768,076 (GRCm39) |
K453E |
possibly damaging |
Het |
Fhod3 |
C |
T |
18: 24,842,673 (GRCm39) |
T3M |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,672,048 (GRCm39) |
L446P |
probably damaging |
Het |
Gfod1 |
T |
A |
13: 43,354,012 (GRCm39) |
D321V |
possibly damaging |
Het |
Glt8d2 |
C |
A |
10: 82,497,987 (GRCm39) |
|
probably benign |
Het |
Gm11115 |
A |
G |
5: 88,301,948 (GRCm39) |
M4T |
unknown |
Het |
Gm11568 |
G |
A |
11: 99,749,209 (GRCm39) |
C138Y |
unknown |
Het |
Gm57859 |
C |
T |
11: 113,580,021 (GRCm39) |
T472I |
possibly damaging |
Het |
Gm9742 |
A |
G |
13: 8,085,052 (GRCm39) |
|
noncoding transcript |
Het |
Gnrhr |
G |
T |
5: 86,345,434 (GRCm39) |
T84N |
probably damaging |
Het |
Gpr176 |
C |
A |
2: 118,110,204 (GRCm39) |
G352W |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,304,864 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Inpp5j |
C |
G |
11: 3,449,738 (GRCm39) |
W681C |
probably damaging |
Het |
Insl6 |
A |
G |
19: 29,298,968 (GRCm39) |
M148T |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,452,648 (GRCm39) |
M771R |
possibly damaging |
Het |
Kank1 |
G |
T |
19: 25,403,357 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,366,942 (GRCm39) |
Y271H |
probably damaging |
Het |
Kcnq4 |
C |
A |
4: 120,573,798 (GRCm39) |
R221L |
probably damaging |
Het |
Klk1b26 |
G |
A |
7: 43,665,772 (GRCm39) |
V195I |
probably benign |
Het |
Lactb |
A |
C |
9: 66,878,145 (GRCm39) |
V228G |
possibly damaging |
Het |
Ldb3 |
T |
C |
14: 34,258,541 (GRCm39) |
D649G |
probably damaging |
Het |
Lilra6 |
T |
A |
7: 3,916,138 (GRCm39) |
R240S |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,338,145 (GRCm39) |
Y1212H |
probably damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,216,321 (GRCm39) |
|
probably null |
Het |
Mctp1 |
C |
T |
13: 76,975,846 (GRCm39) |
L483F |
probably damaging |
Het |
Mmp16 |
T |
C |
4: 18,115,878 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,445,033 (GRCm39) |
L360* |
probably null |
Het |
Myh4 |
A |
G |
11: 67,143,123 (GRCm39) |
E1017G |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,879,928 (GRCm39) |
M307L |
probably benign |
Het |
Or10al3 |
C |
T |
17: 38,012,188 (GRCm39) |
A209V |
probably benign |
Het |
Or10d1 |
A |
C |
9: 39,484,139 (GRCm39) |
C139G |
probably damaging |
Het |
Or5m11 |
A |
G |
2: 85,781,587 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8k35 |
A |
G |
2: 86,424,752 (GRCm39) |
V140A |
probably benign |
Het |
Phc2 |
A |
G |
4: 128,617,100 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,814,999 (GRCm39) |
C575F |
probably benign |
Het |
Ptpra |
T |
A |
2: 130,381,605 (GRCm39) |
N364K |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,550,995 (GRCm39) |
|
probably benign |
Het |
Rims1 |
A |
G |
1: 22,507,263 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,427,442 (GRCm39) |
|
probably benign |
Het |
Sit1 |
T |
A |
4: 43,482,991 (GRCm39) |
Q86L |
possibly damaging |
Het |
Skint4 |
C |
A |
4: 111,975,136 (GRCm39) |
|
probably benign |
Het |
Skint8 |
G |
T |
4: 111,796,020 (GRCm39) |
|
probably benign |
Het |
Smim13 |
T |
C |
13: 41,426,186 (GRCm39) |
I74T |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
Spmap2l |
A |
G |
5: 77,185,204 (GRCm39) |
|
probably benign |
Het |
Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
Synpo2 |
T |
C |
3: 122,907,981 (GRCm39) |
D445G |
probably damaging |
Het |
Tas2r102 |
A |
T |
6: 132,739,328 (GRCm39) |
I79F |
probably damaging |
Het |
Tmc4 |
A |
G |
7: 3,670,609 (GRCm39) |
L494P |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,053,805 (GRCm39) |
V1412F |
probably damaging |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trappc8 |
T |
A |
18: 20,978,658 (GRCm39) |
I813F |
possibly damaging |
Het |
Trim26 |
T |
C |
17: 37,163,598 (GRCm39) |
|
probably benign |
Het |
Unc13a |
T |
C |
8: 72,097,557 (GRCm39) |
D1171G |
probably damaging |
Het |
Usp7 |
A |
G |
16: 8,517,126 (GRCm39) |
V245A |
probably damaging |
Het |
Vmn1r38 |
T |
A |
6: 66,753,979 (GRCm39) |
T46S |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,355,388 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,809,991 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Atad2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Atad2b
|
APN |
12 |
5,074,593 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCATCACCATACCTGGTTCAC -3'
(R):5'- AGAGGCTCACTGTCCACCATAACTC -3'
Sequencing Primer
(F):5'- TGGAGCCATACCTATGGATTAAAGTG -3'
(R):5'- Ctgtctgtttgtctgtttgtttg -3'
|
Posted On |
2013-05-23 |