Incidental Mutation 'R0124:Atad2b'
| ID |
21234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
038409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0124 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5002676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 348
(K348R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045664
AA Change: K348R
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: K348R
| 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
|
| Meta Mutation Damage Score |
0.0850 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,449,698 (GRCm39) |
Y481H |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
| Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
| Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
| Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
| Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,102,073 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
| Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,561,370 (GRCm39) |
K64* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
| Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
| Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,722,506 (GRCm39) |
T223A |
possibly damaging |
Het |
| Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
| Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
| Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
| Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
| Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
| Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
| Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,232,434 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
| Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
| Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
| Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTAGGAGCAGCACTACCAAAG -3'
(R):5'- TGCTTGGATGTGAAGCAGCCACAG -3'
Sequencing Primer
(F):5'- GCAGCACTACCAAAGTAAGAAG -3'
(R):5'- aaacatattagcaacaaacaacgg -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation