Incidental Mutation 'R6163:Atad2b'
| ID |
489995 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5004593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 374
(L374H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045664
AA Change: L374H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: L374H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,098 (GRCm39) |
Q228* |
probably null |
Het |
| Asic5 |
A |
G |
3: 81,913,833 (GRCm39) |
N169S |
probably damaging |
Het |
| Birc2 |
G |
A |
9: 7,819,036 (GRCm39) |
T544I |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Cc2d2b |
C |
T |
19: 40,744,950 (GRCm39) |
T23I |
probably benign |
Het |
| Ccdc137 |
G |
T |
11: 120,350,927 (GRCm39) |
R108L |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,764 (GRCm39) |
I2308T |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,308,620 (GRCm39) |
T103A |
probably benign |
Het |
| Cpvl |
C |
A |
6: 53,850,503 (GRCm39) |
V445F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,950 (GRCm39) |
S303P |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,657,761 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cyp51 |
T |
A |
5: 4,150,199 (GRCm39) |
I175F |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,723,828 (GRCm39) |
P695S |
possibly damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,896,641 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,493,926 (GRCm39) |
L1694P |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,411,729 (GRCm39) |
Q298* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,731,726 (GRCm39) |
|
probably null |
Het |
| Esr2 |
A |
C |
12: 76,168,643 (GRCm39) |
V522G |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,494,962 (GRCm39) |
H262L |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,178,051 (GRCm39) |
M373L |
probably benign |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,423,092 (GRCm39) |
E213D |
probably damaging |
Het |
| Gmip |
T |
A |
8: 70,270,022 (GRCm39) |
V675E |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,893,932 (GRCm39) |
E330* |
probably null |
Het |
| H2ac13 |
A |
T |
13: 21,900,859 (GRCm39) |
N90Y |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,736 (GRCm39) |
K778R |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,416 (GRCm39) |
S4G |
probably benign |
Het |
| Igkv3-3 |
T |
A |
6: 70,664,257 (GRCm39) |
V33E |
possibly damaging |
Het |
| Itga2 |
C |
A |
13: 115,002,726 (GRCm39) |
G588V |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,365,245 (GRCm39) |
H58Y |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,083,827 (GRCm39) |
D2365E |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,686,809 (GRCm39) |
Y518C |
probably damaging |
Het |
| Marchf6 |
G |
C |
15: 31,465,497 (GRCm39) |
H802Q |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,268,126 (GRCm39) |
S26P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,716,040 (GRCm39) |
L2074Q |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,793 (GRCm39) |
E174G |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,326 (GRCm39) |
H860R |
probably benign |
Het |
| Neurod1 |
A |
G |
2: 79,284,505 (GRCm39) |
F293L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,131 (GRCm39) |
A905E |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,592 (GRCm39) |
I4N |
possibly damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,595 (GRCm39) |
Y220* |
probably null |
Het |
| Or5b12b |
A |
C |
19: 12,861,472 (GRCm39) |
T76P |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,024 (GRCm39) |
I297T |
probably benign |
Het |
| Otop1 |
C |
A |
5: 38,445,234 (GRCm39) |
|
probably null |
Het |
| Otp |
A |
G |
13: 95,012,288 (GRCm39) |
H4R |
probably damaging |
Het |
| P4htm |
A |
C |
9: 108,459,150 (GRCm39) |
Y261D |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,369 (GRCm39) |
R1419W |
probably damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,605 (GRCm39) |
K183E |
probably damaging |
Het |
| Prkd3 |
C |
A |
17: 79,273,784 (GRCm39) |
D491Y |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,454 (GRCm39) |
L64R |
possibly damaging |
Het |
| Pygo1 |
G |
T |
9: 72,851,980 (GRCm39) |
A56S |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,404,470 (GRCm39) |
T189A |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,349,254 (GRCm39) |
H3784L |
possibly damaging |
Het |
| Rps6ka5 |
T |
G |
12: 100,562,179 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,338,106 (GRCm39) |
I93F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,690 (GRCm39) |
*408W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,109,443 (GRCm39) |
E51* |
probably null |
Het |
| Ssc5d |
T |
A |
7: 4,930,253 (GRCm39) |
H111Q |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,280,981 (GRCm39) |
N41D |
probably benign |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,882,710 (GRCm39) |
E2G |
possibly damaging |
Het |
| Tff2 |
T |
C |
17: 31,363,152 (GRCm39) |
E24G |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,103,068 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,946,477 (GRCm39) |
D311E |
probably benign |
Het |
| Usp15 |
G |
T |
10: 123,004,210 (GRCm39) |
N181K |
probably damaging |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,591 (GRCm39) |
E12A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,773 (GRCm39) |
S302P |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,825 (GRCm39) |
M690T |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,858 (GRCm39) |
H465Q |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
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'- CCACTATGGGTCCAGAGATTC -3'
(R):5'- GGAAAAGACTTTACTAAGCAGCCC -3'
Sequencing Primer
(F):5'- CAGAGATTCTGTTCAGGTCCTCAG -3'
(R):5'- ACTAAGCAGCCCAGGTTTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation