Incidental Mutation 'R4979:Atad2b'
ID |
384693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2b
|
Ensembl Gene |
ENSMUSG00000052812 |
Gene Name |
ATPase family, AAA domain containing 2B |
Synonyms |
1110014E10Rik, D530031C13Rik |
MMRRC Submission |
042574-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4979 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 5084513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 1420
(D1420Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
AlphaFold |
E9Q166 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045664
AA Change: D1420Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047445 Gene: ENSMUSG00000052812 AA Change: D1420Y
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 |
|
Meta Mutation Damage Score |
0.1340 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
99% (79/80) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,220,643 (GRCm39) |
E381K |
probably damaging |
Het |
Abca1 |
T |
C |
4: 53,085,092 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,840,617 (GRCm39) |
Q870* |
probably null |
Het |
Ambp |
C |
T |
4: 63,070,888 (GRCm39) |
V64M |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,622,212 (GRCm39) |
V1542A |
probably damaging |
Het |
Anln |
T |
C |
9: 22,287,797 (GRCm39) |
Y168C |
probably benign |
Het |
Apoa4 |
T |
A |
9: 46,152,803 (GRCm39) |
N29K |
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,283,334 (GRCm39) |
T192A |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,465,336 (GRCm39) |
W648R |
possibly damaging |
Het |
Bank1 |
A |
G |
3: 135,960,662 (GRCm39) |
L198P |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,940 (GRCm39) |
K509E |
possibly damaging |
Het |
Cacna1e |
T |
C |
1: 154,289,739 (GRCm39) |
D1821G |
probably damaging |
Het |
Ccdc80 |
G |
A |
16: 44,936,650 (GRCm39) |
V692M |
possibly damaging |
Het |
Ccdc88a |
C |
T |
11: 29,432,133 (GRCm39) |
Q308* |
probably null |
Het |
Ccl8 |
T |
C |
11: 82,006,973 (GRCm39) |
V62A |
probably damaging |
Het |
Clspn |
C |
A |
4: 126,472,179 (GRCm39) |
P951Q |
probably damaging |
Het |
Cngb1 |
T |
A |
8: 95,985,785 (GRCm39) |
I858F |
probably damaging |
Het |
Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
Ctc1 |
C |
T |
11: 68,924,328 (GRCm39) |
A960V |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 31,009,221 (GRCm39) |
E1106G |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,302,606 (GRCm39) |
R1766H |
probably damaging |
Het |
Dipk1a |
A |
T |
5: 108,057,400 (GRCm39) |
L386* |
probably null |
Het |
Dnajc13 |
G |
T |
9: 104,063,922 (GRCm39) |
N1341K |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
E2f8 |
G |
A |
7: 48,524,918 (GRCm39) |
|
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,972,967 (GRCm39) |
D91G |
possibly damaging |
Het |
Fars2 |
A |
G |
13: 36,388,564 (GRCm39) |
R18G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,816,995 (GRCm39) |
S2486G |
probably benign |
Het |
Fibin |
C |
T |
2: 110,192,963 (GRCm39) |
D60N |
possibly damaging |
Het |
Fpgs |
A |
G |
2: 32,577,379 (GRCm39) |
|
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,765,247 (GRCm39) |
D303G |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,899,049 (GRCm39) |
T812K |
possibly damaging |
Het |
Gpbar1 |
G |
C |
1: 74,318,404 (GRCm39) |
A216P |
probably benign |
Het |
Grin2d |
A |
G |
7: 45,507,357 (GRCm39) |
I448T |
probably benign |
Het |
Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
Iqce |
G |
T |
5: 140,677,376 (GRCm39) |
D148E |
probably damaging |
Het |
Iqcg |
T |
A |
16: 32,839,884 (GRCm39) |
E354V |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,226,320 (GRCm39) |
|
probably benign |
Het |
Ly75 |
C |
T |
2: 60,206,238 (GRCm39) |
G144S |
probably damaging |
Het |
Marco |
C |
A |
1: 120,421,954 (GRCm39) |
M83I |
probably benign |
Het |
Mettl6 |
A |
T |
14: 31,201,752 (GRCm39) |
L185H |
probably damaging |
Het |
Mppe1 |
C |
T |
18: 67,362,773 (GRCm39) |
G154D |
probably damaging |
Het |
Mrpl42 |
T |
C |
10: 95,326,237 (GRCm39) |
E85G |
probably benign |
Het |
Neb |
A |
G |
2: 52,079,921 (GRCm39) |
V5518A |
probably damaging |
Het |
Or12d13 |
A |
T |
17: 37,647,759 (GRCm39) |
F121L |
probably benign |
Het |
Or52p1 |
T |
A |
7: 104,267,812 (GRCm39) |
F317I |
probably null |
Het |
Or5b105 |
A |
T |
19: 13,080,053 (GRCm39) |
I199N |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,766 (GRCm39) |
C242* |
probably null |
Het |
Or7d10 |
G |
T |
9: 19,831,655 (GRCm39) |
S50I |
probably benign |
Het |
Perm1 |
A |
G |
4: 156,302,034 (GRCm39) |
T193A |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,582,652 (GRCm39) |
C172S |
probably damaging |
Het |
Prr23a3 |
T |
A |
9: 98,747,431 (GRCm39) |
D128E |
possibly damaging |
Het |
Prss28 |
A |
G |
17: 25,528,711 (GRCm39) |
Y51C |
probably damaging |
Het |
Psmb1 |
A |
T |
17: 15,696,451 (GRCm39) |
M85K |
probably benign |
Het |
Rae1 |
T |
A |
2: 172,854,401 (GRCm39) |
|
probably benign |
Het |
Rasal1 |
A |
G |
5: 120,816,741 (GRCm39) |
D759G |
probably benign |
Het |
Rcvrn |
G |
A |
11: 67,586,246 (GRCm39) |
G2R |
probably damaging |
Het |
Robo3 |
C |
T |
9: 37,334,640 (GRCm39) |
A597T |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
Sdcbp |
T |
A |
4: 6,378,980 (GRCm39) |
Y22* |
probably null |
Het |
Sin3a |
T |
C |
9: 57,025,360 (GRCm39) |
F1069L |
probably damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,129 (GRCm39) |
V548I |
possibly damaging |
Het |
Tbc1d22a |
A |
G |
15: 86,275,287 (GRCm39) |
H403R |
probably damaging |
Het |
Tbr1 |
G |
T |
2: 61,635,593 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
A |
17: 3,555,985 (GRCm39) |
D65E |
probably damaging |
Het |
Tpcn2 |
A |
G |
7: 144,813,833 (GRCm39) |
S488P |
probably benign |
Het |
Trav9-2 |
T |
C |
14: 53,828,695 (GRCm39) |
S22P |
probably damaging |
Het |
Trim34a |
T |
A |
7: 103,897,069 (GRCm39) |
N44K |
probably benign |
Het |
Unc79 |
C |
G |
12: 103,078,691 (GRCm39) |
P1619A |
probably benign |
Het |
Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
Vhl |
A |
T |
6: 113,601,159 (GRCm39) |
M20L |
unknown |
Het |
Vmn1r215 |
G |
A |
13: 23,260,064 (GRCm39) |
A35T |
probably benign |
Het |
Vmn1r222 |
G |
A |
13: 23,416,602 (GRCm39) |
L204F |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,994,829 (GRCm39) |
H115Q |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,189,640 (GRCm39) |
F340L |
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 |
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 |
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'- ACCATAGCAGTCACTTTGTGTC -3'
(R):5'- AGGCAAGTGATGTACTACCAC -3'
Sequencing Primer
(F):5'- CATAGCAGTCACTTTGTGTCTTATG -3'
(R):5'- GTGATGTACTACCACTAGCTACAG -3'
|
Posted On |
2016-05-10 |