Incidental Mutation 'R6374:Atad2b'
| ID |
513712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
044524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5068002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1000
(V1000A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
[ENSMUST00000218859]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045664
AA Change: V1000A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: V1000A
| 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 |
probably benign
Transcript: ENSMUST00000218859
|
| Meta Mutation Damage Score |
0.4356 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
99% (75/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,800 (GRCm39) |
S293A |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,892 (GRCm39) |
Q162L |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,974,216 (GRCm39) |
Y239* |
probably null |
Het |
| Aox3 |
T |
C |
1: 58,211,320 (GRCm39) |
I959T |
probably benign |
Het |
| Atic |
C |
T |
1: 71,604,100 (GRCm39) |
T221M |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,116,942 (GRCm39) |
R225H |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,004,657 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,113,974 (GRCm39) |
T291S |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,499,746 (GRCm39) |
Q556* |
probably null |
Het |
| Cd3e |
G |
A |
9: 44,920,661 (GRCm39) |
L12F |
probably benign |
Het |
| Cdc42ep1 |
A |
T |
15: 78,731,649 (GRCm39) |
R31S |
probably damaging |
Het |
| Cyp21a1 |
G |
T |
17: 35,023,110 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,974,115 (GRCm38) |
M192T |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,341 (GRCm39) |
H330Q |
possibly damaging |
Het |
| Enah |
T |
C |
1: 181,751,145 (GRCm39) |
E232G |
unknown |
Het |
| Etnppl |
C |
T |
3: 130,414,342 (GRCm39) |
T73I |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,400,189 (GRCm39) |
I305F |
probably benign |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,021 (GRCm39) |
N567K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,924,080 (GRCm39) |
Q435R |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hao1 |
T |
G |
2: 134,365,024 (GRCm39) |
D201A |
probably benign |
Het |
| Heg1 |
T |
C |
16: 33,547,499 (GRCm39) |
L786P |
possibly damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,357,303 (GRCm39) |
C238S |
possibly damaging |
Het |
| Hrg |
A |
G |
16: 22,779,742 (GRCm39) |
Y340C |
probably damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,998 (GRCm39) |
I411F |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,543,549 (GRCm39) |
Y202H |
probably damaging |
Het |
| Nags |
T |
C |
11: 102,037,337 (GRCm39) |
C143R |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,263,076 (GRCm39) |
N453D |
probably damaging |
Het |
| Nup35 |
G |
T |
2: 80,488,730 (GRCm39) |
M322I |
probably benign |
Het |
| Oprl1 |
T |
C |
2: 181,357,721 (GRCm39) |
V69A |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,128 (GRCm39) |
L144P |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,215 (GRCm39) |
Y265F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,629,903 (GRCm39) |
P343L |
possibly damaging |
Het |
| Peak1 |
C |
A |
9: 56,164,950 (GRCm39) |
D993Y |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,627,758 (GRCm39) |
Y1383C |
probably damaging |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,213,325 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,709,532 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,285,712 (GRCm39) |
E419G |
probably benign |
Het |
| Rnf32 |
C |
T |
5: 29,430,266 (GRCm39) |
Q362* |
probably null |
Het |
| Sbspon |
T |
C |
1: 15,953,887 (GRCm39) |
D131G |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,776,783 (GRCm39) |
S392P |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 59,026,728 (GRCm39) |
D121V |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,024,765 (GRCm39) |
T1042A |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,171,369 (GRCm39) |
V1371D |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,055,668 (GRCm39) |
V584A |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,355,874 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,124,731 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
C |
T |
11: 62,047,418 (GRCm39) |
T849I |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,041,734 (GRCm39) |
L1368H |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,187,959 (GRCm39) |
E89G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,493,020 (GRCm39) |
V422A |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,360 (GRCm39) |
T21K |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,065,940 (GRCm39) |
E1790G |
probably damaging |
Het |
| Tmem88b |
T |
A |
4: 155,870,221 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,864,318 (GRCm39) |
D355G |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,930,484 (GRCm39) |
V576E |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,039,609 (GRCm39) |
G62D |
probably benign |
Het |
| Trim66 |
T |
G |
7: 109,085,269 (GRCm39) |
K100N |
probably benign |
Het |
| Tsnaxip1 |
A |
T |
8: 106,568,172 (GRCm39) |
T313S |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,279 (GRCm39) |
I389N |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,094,097 (GRCm39) |
V1335M |
possibly damaging |
Het |
| Urah |
A |
G |
7: 140,415,124 (GRCm39) |
T5A |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,388,914 (GRCm39) |
Y2185H |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,692,172 (GRCm39) |
S643P |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,970,937 (GRCm39) |
V631A |
probably damaging |
Het |
| Vmn2r11 |
G |
A |
5: 109,201,679 (GRCm39) |
T275I |
possibly damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,349,420 (GRCm39) |
V721F |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,498 (GRCm39) |
I299T |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,251 (GRCm39) |
T2387A |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,209,044 (GRCm39) |
L610Q |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,568 (GRCm39) |
E905G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,309,095 (GRCm39) |
T774A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,299 (GRCm39) |
I457V |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,111,994 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,702 (GRCm39) |
F202L |
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 |
|
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 |
|
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'- CGTCTGTTTCAGAGGTCAGG -3'
(R):5'- GGCTTTAATGTCGCCACAG -3'
Sequencing Primer
(F):5'- CAGGATGAGCACCATGAAGCTTTTC -3'
(R):5'- AATGTCGCCACAGTGTCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation