Incidental Mutation 'R9450:Atad2b'
| ID |
714210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9450 (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 5063859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 947
(S947T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
[ENSMUST00000218859]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045664
AA Change: S947T
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: S947T
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2810004N23Rik |
T |
C |
8: 125,567,215 (GRCm39) |
K229E |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,859,930 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,490,942 (GRCm39) |
D508E |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,855,762 (GRCm39) |
E558G |
probably benign |
Het |
| Arid4a |
A |
T |
12: 71,119,374 (GRCm39) |
D331V |
|
Het |
| Ash1l |
A |
T |
3: 88,915,139 (GRCm39) |
K1923M |
possibly damaging |
Het |
| B4galt1 |
A |
T |
4: 40,853,804 (GRCm39) |
M1K |
probably null |
Het |
| Ccpg1 |
G |
A |
9: 72,904,703 (GRCm39) |
S4N |
unknown |
Het |
| Cfap43 |
A |
T |
19: 47,886,310 (GRCm39) |
L102M |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,327,644 (GRCm39) |
I483T |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,373 (GRCm39) |
D245E |
probably benign |
Het |
| Cpsf7 |
G |
A |
19: 10,518,213 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,091,354 (GRCm39) |
D721G |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,083,862 (GRCm39) |
T639I |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,861,426 (GRCm39) |
E1397G |
unknown |
Het |
| Dsp |
C |
T |
13: 38,376,379 (GRCm39) |
T1388M |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,183,425 (GRCm39) |
G73D |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,076 (GRCm39) |
D960G |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,200,615 (GRCm39) |
V764A |
probably damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,913 (GRCm39) |
K645E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,878,188 (GRCm39) |
Y1339* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,316,845 (GRCm39) |
T3808N |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,355,055 (GRCm39) |
N129K |
possibly damaging |
Het |
| Iqca1l |
T |
A |
5: 24,754,447 (GRCm39) |
I395F |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,097 (GRCm39) |
Y340H |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,372 (GRCm39) |
I460M |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,242,739 (GRCm39) |
I599T |
possibly damaging |
Het |
| Kif1b |
A |
C |
4: 149,322,467 (GRCm39) |
D817E |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,357,760 (GRCm39) |
C94* |
probably null |
Het |
| Larp1 |
T |
C |
11: 57,941,890 (GRCm39) |
S743P |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,474,490 (GRCm39) |
N267S |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,851,064 (GRCm39) |
L92P |
probably damaging |
Het |
| Ly6g2 |
T |
A |
15: 75,092,574 (GRCm39) |
C98S |
probably damaging |
Het |
| Mns1 |
C |
A |
9: 72,359,890 (GRCm39) |
Q347K |
probably benign |
Het |
| Myof |
A |
T |
19: 37,949,374 (GRCm39) |
F611I |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,117,601 (GRCm39) |
L76P |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,616,008 (GRCm39) |
H114R |
|
Het |
| Or10g3 |
G |
C |
14: 52,610,110 (GRCm39) |
Y133* |
probably null |
Het |
| Or1e30 |
C |
A |
11: 73,678,101 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,398 (GRCm39) |
N191K |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,992 (GRCm39) |
D237G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
T |
11: 71,952,412 (GRCm39) |
M593K |
possibly damaging |
Het |
| Plxdc1 |
C |
T |
11: 97,845,681 (GRCm39) |
V211I |
probably damaging |
Het |
| Prkn |
C |
A |
17: 12,057,521 (GRCm39) |
H301N |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,430,072 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,697,105 (GRCm39) |
T1769A |
probably benign |
Het |
| Spata31f1e |
G |
T |
4: 42,793,833 (GRCm39) |
Q100K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,884,896 (GRCm39) |
D153G |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,637 (GRCm39) |
M713K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,894,434 (GRCm39) |
K966E |
possibly damaging |
Het |
| Vars2 |
T |
C |
17: 35,973,027 (GRCm39) |
T421A |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,984,770 (GRCm39) |
C298* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,352,118 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
T |
C |
7: 120,403,253 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
G |
T |
4: 138,315,940 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,037,281 (GRCm39) |
K454E |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,577 (GRCm39) |
H470R |
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 |
|
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 |
|
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'- GAGAACTAGCAGACCTGTTGTAC -3'
(R):5'- AACTTCACTGTTTGCACACTACTG -3'
Sequencing Primer
(F):5'- GCAGACCTGTTGTACATTACTTAGTG -3'
(R):5'- CTGTTTGCACACTACTGAAACAAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation