Incidental Mutation 'R1996:Atad2b'
ID |
225769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2b
|
Ensembl Gene |
ENSMUSG00000052812 |
Gene Name |
ATPase family, AAA domain containing 2B |
Synonyms |
1110014E10Rik, D530031C13Rik |
MMRRC Submission |
040006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1996 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5040883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 184
(H184L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
[ENSMUST00000218859]
|
AlphaFold |
E9Q166 |
Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000218859
AA Change: H184L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220408
|
Meta Mutation Damage Score |
0.0672 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
99% (84/85) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,646,556 (GRCm39) |
W1069R |
probably damaging |
Het |
Aaas |
C |
T |
15: 102,248,494 (GRCm39) |
V241I |
probably benign |
Het |
Abca3 |
A |
G |
17: 24,606,506 (GRCm39) |
E787G |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,491,720 (GRCm39) |
E582D |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,606,376 (GRCm39) |
M462T |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,207,034 (GRCm39) |
T591A |
probably benign |
Het |
Ankmy2 |
T |
C |
12: 36,243,796 (GRCm39) |
M337T |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,786 (GRCm39) |
N587S |
probably benign |
Het |
Apol6 |
T |
A |
15: 76,934,956 (GRCm39) |
I75N |
probably benign |
Het |
Atf6b |
A |
T |
17: 34,871,961 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
G |
A |
5: 123,649,402 (GRCm39) |
V256I |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,097,340 (GRCm39) |
|
probably benign |
Het |
Bend4 |
C |
A |
5: 67,557,527 (GRCm39) |
V430F |
probably damaging |
Het |
Camkv |
A |
G |
9: 107,824,320 (GRCm39) |
D244G |
probably damaging |
Het |
Caps2 |
T |
A |
10: 112,039,908 (GRCm39) |
L450Q |
probably damaging |
Het |
Ccr1 |
T |
A |
9: 123,763,551 (GRCm39) |
K326N |
probably benign |
Het |
Cep135 |
T |
C |
5: 76,780,113 (GRCm39) |
I815T |
probably benign |
Het |
Chchd4 |
A |
G |
6: 91,442,116 (GRCm39) |
Y101H |
probably damaging |
Het |
Copb1 |
G |
C |
7: 113,831,438 (GRCm39) |
A570G |
probably benign |
Het |
Cpsf2 |
C |
A |
12: 101,964,867 (GRCm39) |
T505K |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,417,947 (GRCm39) |
R136G |
probably benign |
Het |
Daxx |
A |
G |
17: 34,132,585 (GRCm39) |
T572A |
possibly damaging |
Het |
Etaa1 |
C |
A |
11: 17,902,671 (GRCm39) |
D89Y |
probably damaging |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fchsd2 |
T |
C |
7: 100,927,660 (GRCm39) |
F701L |
probably benign |
Het |
Fstl5 |
A |
T |
3: 76,615,141 (GRCm39) |
H734L |
probably benign |
Het |
Gabbr1 |
T |
A |
17: 37,380,112 (GRCm39) |
W584R |
probably damaging |
Het |
Galc |
T |
C |
12: 98,218,285 (GRCm39) |
D189G |
probably damaging |
Het |
Gm9979 |
T |
C |
13: 40,859,228 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 136,021,209 (GRCm39) |
S31G |
possibly damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,405,740 (GRCm39) |
|
probably benign |
Het |
Hoxc4 |
T |
C |
15: 102,944,183 (GRCm39) |
I187T |
probably damaging |
Het |
Hsd3b6 |
A |
T |
3: 98,713,597 (GRCm39) |
I234N |
probably damaging |
Het |
Ifit3b |
T |
C |
19: 34,588,877 (GRCm39) |
C18R |
probably damaging |
Het |
Igdcc4 |
T |
A |
9: 65,029,101 (GRCm39) |
V246E |
probably damaging |
Het |
Il1rap |
A |
T |
16: 26,541,243 (GRCm39) |
T495S |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,121,932 (GRCm39) |
E205G |
probably null |
Het |
Kif21a |
A |
T |
15: 90,878,574 (GRCm39) |
C235* |
probably null |
Het |
Krt16 |
A |
T |
11: 100,139,614 (GRCm39) |
S35T |
unknown |
Het |
Lamc2 |
T |
C |
1: 153,030,216 (GRCm39) |
D142G |
possibly damaging |
Het |
Larp4 |
G |
T |
15: 99,882,844 (GRCm39) |
W22L |
probably damaging |
Het |
Ldlrad1 |
C |
T |
4: 107,072,158 (GRCm39) |
R127* |
probably null |
Het |
Mamdc2 |
G |
A |
19: 23,341,289 (GRCm39) |
Q229* |
probably null |
Het |
Mbtd1 |
CT |
CTT |
11: 93,823,222 (GRCm39) |
|
probably null |
Het |
Msln |
T |
A |
17: 25,973,193 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtch2 |
T |
C |
2: 90,677,665 (GRCm39) |
V8A |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,689,262 (GRCm39) |
N338K |
probably damaging |
Het |
Or10x4 |
T |
C |
1: 174,218,983 (GRCm39) |
M116T |
probably damaging |
Het |
Or51a39 |
A |
G |
7: 102,362,999 (GRCm39) |
L207P |
probably damaging |
Het |
Or6c5 |
C |
A |
10: 129,074,298 (GRCm39) |
N93K |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,578,381 (GRCm39) |
V89A |
probably benign |
Het |
Phka2 |
T |
C |
X: 159,324,411 (GRCm39) |
I255T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,216,759 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
A |
17: 64,594,639 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
C |
T |
15: 89,042,971 (GRCm39) |
V1473I |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,091,679 (GRCm39) |
D363E |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,913,072 (GRCm39) |
Y207C |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,423,080 (GRCm39) |
V304E |
probably damaging |
Het |
Robo1 |
G |
T |
16: 72,767,067 (GRCm39) |
R413L |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,313,839 (GRCm39) |
E864K |
probably damaging |
Het |
Scap |
C |
T |
9: 110,202,039 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,922,260 (GRCm39) |
M1311K |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,286,043 (GRCm39) |
I460F |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,730 (GRCm39) |
R134G |
probably benign |
Het |
Spopfm1 |
A |
T |
3: 94,173,018 (GRCm39) |
M9L |
probably benign |
Het |
Sspo |
A |
G |
6: 48,452,424 (GRCm39) |
E2651G |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,838,895 (GRCm39) |
N57S |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,681,703 (GRCm39) |
Q2642H |
probably damaging |
Het |
Thsd7b |
G |
T |
1: 129,686,188 (GRCm39) |
E577* |
probably null |
Het |
Tlr3 |
A |
G |
8: 45,850,734 (GRCm39) |
V721A |
probably benign |
Het |
Tnik |
A |
G |
3: 28,719,829 (GRCm39) |
I1226V |
probably damaging |
Het |
Traf3 |
A |
G |
12: 111,227,095 (GRCm39) |
K328E |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,291,652 (GRCm39) |
|
probably benign |
Het |
Vmn1r213 |
T |
G |
13: 23,196,473 (GRCm39) |
V352G |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,767,062 (GRCm39) |
I812V |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,038,144 (GRCm39) |
N573S |
probably damaging |
Het |
Vmn2r45 |
G |
A |
7: 8,475,024 (GRCm39) |
T668I |
probably damaging |
Het |
Zbtb20 |
T |
A |
16: 43,430,443 (GRCm39) |
V318E |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,343,434 (GRCm39) |
R524G |
probably benign |
Het |
Zc3h18 |
C |
G |
8: 123,134,126 (GRCm39) |
|
probably benign |
Het |
Zfp618 |
T |
C |
4: 63,049,452 (GRCm39) |
|
probably null |
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 |
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'- ACAGTCTTGCTCTCCCCAAG -3'
(R):5'- CCTGTGCACATGATTCTTCAG -3'
Sequencing Primer
(F):5'- TGCTCTCCCCAAGCTAATATATAATG -3'
(R):5'- ACATGATTCTTCAGGTGTTTTGGCAC -3'
|
Posted On |
2014-08-25 |