Incidental Mutation 'R4847:Atad2b'
| ID |
374521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
042460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4847 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 4994901 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219187
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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 |
|---|
| 5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
| Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,266 (GRCm39) |
T600A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
| Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
| Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
| Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
| Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
| Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,204,063 (GRCm39) |
D305G |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
| Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
| Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
| Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
| Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
| Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,280,525 (GRCm39) |
S586P |
possibly damaging |
Het |
| Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
| Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
| Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,641,500 (GRCm39) |
I137F |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
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 |
|
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 |
|
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'- CACAGAAGTGTATTGAATGTTGGTAGG -3'
(R):5'- ACAGGACTTCAGGGGTTTCATTG -3'
Sequencing Primer
(F):5'- TGTATTGAATGTTGGTAGGAAGAAC -3'
(R):5'- CTTGCCAATGATGAAGACTTGGGC -3'
|
| Posted On |
2016-03-16 |
Incidental Mutation