Incidental Mutation 'R4573:Atad2b'
| ID |
343453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
041598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4573 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 5004663 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 null
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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,253,293 (GRCm39) |
E212G |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Akr1b10 |
T |
C |
6: 34,369,064 (GRCm39) |
V153A |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,217,054 (GRCm39) |
Y94C |
probably damaging |
Het |
| Arhgef33 |
T |
C |
17: 80,672,711 (GRCm39) |
S320P |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,408,108 (GRCm39) |
S87P |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,622,190 (GRCm39) |
Y458C |
probably damaging |
Het |
| Aspm |
G |
T |
1: 139,407,245 (GRCm39) |
W2044L |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,106,204 (GRCm39) |
I869M |
possibly damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,731,412 (GRCm39) |
L263F |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,202 (GRCm39) |
|
probably null |
Het |
| Carf |
G |
T |
1: 60,187,271 (GRCm39) |
A590S |
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,967,245 (GRCm39) |
D658E |
probably damaging |
Het |
| Cd1d2 |
A |
G |
3: 86,894,861 (GRCm39) |
I78V |
probably benign |
Het |
| Cdc42bpb |
A |
T |
12: 111,289,575 (GRCm39) |
M418K |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,118,152 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,354,712 (GRCm39) |
K932R |
probably benign |
Het |
| Ces1d |
A |
C |
8: 93,908,162 (GRCm39) |
N310K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,935,960 (GRCm39) |
K240R |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,848,061 (GRCm39) |
E193G |
probably benign |
Het |
| Dhrs9 |
C |
A |
2: 69,227,985 (GRCm39) |
H200N |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,919,380 (GRCm39) |
S1118P |
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,882 (GRCm39) |
Y705C |
possibly damaging |
Het |
| Elmod1 |
T |
C |
9: 53,833,256 (GRCm39) |
N183S |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,498,129 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,816,510 (GRCm39) |
Y4081F |
possibly damaging |
Het |
| Gsr |
A |
G |
8: 34,183,881 (GRCm39) |
D381G |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,229 (GRCm39) |
L253S |
possibly damaging |
Het |
| Herc3 |
C |
A |
6: 58,871,098 (GRCm39) |
T69K |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,777 (GRCm39) |
Y170C |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,964 (GRCm39) |
M161V |
probably benign |
Het |
| Lrp6 |
G |
A |
6: 134,447,693 (GRCm39) |
R985* |
probably null |
Het |
| Marchf5 |
T |
A |
19: 37,197,793 (GRCm39) |
I154K |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,715,835 (GRCm39) |
|
probably null |
Het |
| Mrpl2 |
G |
T |
17: 46,959,967 (GRCm39) |
C212F |
possibly damaging |
Het |
| Mterf1a |
G |
A |
5: 3,941,119 (GRCm39) |
R250W |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,912 (GRCm39) |
|
probably null |
Het |
| Mul1 |
T |
C |
4: 138,163,660 (GRCm39) |
F19L |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,583,733 (GRCm39) |
A74E |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,108,579 (GRCm39) |
|
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,132,889 (GRCm39) |
S33T |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,579,517 (GRCm39) |
V412A |
possibly damaging |
Het |
| Ninj1 |
A |
G |
13: 49,348,463 (GRCm39) |
N191S |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,330,770 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,491 (GRCm39) |
M81K |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,202 (GRCm39) |
I219M |
probably damaging |
Het |
| Osbpl5 |
C |
A |
7: 143,248,053 (GRCm39) |
V671L |
probably benign |
Het |
| Paics |
T |
C |
5: 77,104,450 (GRCm39) |
L25S |
probably benign |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,591 (GRCm39) |
E20G |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,102,966 (GRCm39) |
Q228* |
probably null |
Het |
| Pnpla7 |
T |
C |
2: 24,940,885 (GRCm39) |
V1079A |
probably damaging |
Het |
| Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
| Ppp1r14c |
A |
G |
10: 3,413,416 (GRCm39) |
I150V |
possibly damaging |
Het |
| Ppp1r2 |
A |
G |
16: 31,079,455 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Ptchd4 |
T |
C |
17: 42,813,668 (GRCm39) |
V523A |
probably benign |
Het |
| Rabep1 |
G |
C |
11: 70,808,577 (GRCm39) |
S468T |
probably damaging |
Het |
| Rgs6 |
T |
A |
12: 83,112,789 (GRCm39) |
W200R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,585,519 (GRCm39) |
|
probably null |
Het |
| Scamp2 |
A |
T |
9: 57,484,477 (GRCm39) |
D20V |
probably damaging |
Het |
| Sec24d |
G |
A |
3: 123,152,519 (GRCm39) |
V844M |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,028,151 (GRCm39) |
N57Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,570 (GRCm39) |
K931E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,463,934 (GRCm39) |
T258A |
probably benign |
Het |
| Slc15a1 |
A |
G |
14: 121,724,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,135,253 (GRCm39) |
V425E |
probably benign |
Het |
| Syt7 |
C |
T |
19: 10,416,576 (GRCm39) |
R253* |
probably null |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,206 (GRCm39) |
C2S |
possibly damaging |
Het |
| Trio |
CCTTCTTCTTCT |
CCTTCTTCT |
15: 27,773,084 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
C |
T |
19: 22,879,506 (GRCm39) |
H594Y |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,207 (GRCm39) |
N400K |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,441 (GRCm39) |
M300K |
probably benign |
Het |
| Vmn1r70 |
C |
A |
7: 10,367,556 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,339 (GRCm39) |
D410N |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,934,682 (GRCm39) |
D428G |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,587,127 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,455,191 (GRCm39) |
Y463C |
probably damaging |
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 |
|
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 |
|
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'- CCTCAGGATGGTGGCGAG -3'
(R):5'- CCCATCAAATTGTCTCCTGTGG -3'
Sequencing Primer
(F):5'- AGAGCCTTTGCCCACTGG -3'
(R):5'- GGATGAAAGGTGTGCACTACCTTATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation