Incidental Mutation 'R3508:Atad2b'
| ID |
267475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
040664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 5000595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000218303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219187
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,953,991 (GRCm39) |
F816L |
probably benign |
Het |
| Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,114,030 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
| Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,941 (GRCm39) |
S596P |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
| Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
| Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
| Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
| Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
| Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 173,000,177 (GRCm39) |
V536A |
possibly damaging |
Het |
| Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
| Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
| Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
| Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
| Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
| Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
| Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
| Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
| Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,777 (GRCm39) |
N354D |
probably damaging |
Het |
| Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
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 |
|
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 |
|
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'- GTGGAAATTGAAGATACATAACTACGT -3'
(R):5'- AAGATACTTCAACTTTCAGGATGTG -3'
Sequencing Primer
(F):5'- CGTTCTCATAGAAAGTGAATAGAGGC -3'
(R):5'- GTTGTCACTAGTGAGAGAAAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation