Incidental Mutation 'R8894:Atad2b'
| ID |
677907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
068697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8894 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 5064001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
[ENSMUST00000218859]
|
| 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 |
probably benign
Transcript: ENSMUST00000218859
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,216,397 (GRCm39) |
V291M |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,847,368 (GRCm39) |
Y744S |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,407,639 (GRCm39) |
E237G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,087,375 (GRCm39) |
D416E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,377,668 (GRCm39) |
M1217K |
probably damaging |
Het |
| Ccdc177 |
A |
G |
12: 80,806,077 (GRCm39) |
S66P |
probably damaging |
Het |
| Clpsl2 |
T |
C |
17: 28,769,645 (GRCm39) |
C36R |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,750 (GRCm39) |
L744F |
possibly damaging |
Het |
| Crybg3 |
T |
A |
16: 59,342,552 (GRCm39) |
E980D |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,671 (GRCm39) |
V302E |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,670 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
G |
C |
2: 158,676,795 (GRCm39) |
A410P |
possibly damaging |
Het |
| Dlg2 |
A |
T |
7: 91,614,946 (GRCm39) |
H295L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,383,048 (GRCm39) |
M1172L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,373 (GRCm39) |
S850G |
probably benign |
Het |
| Dst |
A |
T |
1: 34,213,214 (GRCm39) |
M1369L |
possibly damaging |
Het |
| Fcrl6 |
T |
C |
1: 172,426,856 (GRCm39) |
N30S |
probably benign |
Het |
| Fibp |
A |
T |
19: 5,513,309 (GRCm39) |
Q208L |
probably benign |
Het |
| Foxc1 |
T |
G |
13: 31,992,205 (GRCm39) |
S339A |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,907,402 (GRCm39) |
C3196R |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,979,176 (GRCm39) |
W649* |
probably null |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,555 (GRCm39) |
N245S |
possibly damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,244,400 (GRCm39) |
I229V |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,408,378 (GRCm39) |
G1286R |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,388,629 (GRCm39) |
I543V |
probably damaging |
Het |
| Lipn |
A |
T |
19: 34,062,248 (GRCm39) |
*401L |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,347,449 (GRCm39) |
N3082S |
unknown |
Het |
| Magi1 |
A |
T |
6: 93,663,586 (GRCm39) |
F1117Y |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,197,743 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
G |
7: 141,280,758 (GRCm39) |
C371W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,380,036 (GRCm39) |
N779K |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,336,619 (GRCm39) |
L1066P |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,467,951 (GRCm39) |
L302P |
probably damaging |
Het |
| Nudt21 |
C |
A |
8: 94,755,498 (GRCm39) |
G146W |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,940 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,465 (GRCm39) |
L288Q |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,809 (GRCm39) |
M116R |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,370 (GRCm39) |
F250I |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,273 (GRCm39) |
|
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,962,592 (GRCm39) |
N620Y |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,925,206 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
G |
5: 94,596,399 (GRCm39) |
C479G |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Ptprr |
T |
A |
10: 115,884,250 (GRCm39) |
D102E |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,119 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,850,454 (GRCm39) |
D943V |
possibly damaging |
Het |
| Rsrc2 |
G |
T |
5: 123,878,793 (GRCm39) |
R113S |
unknown |
Het |
| Sim1 |
T |
A |
10: 50,786,626 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,068,529 (GRCm39) |
F124L |
|
Het |
| Sort1 |
T |
C |
3: 108,246,228 (GRCm39) |
F402L |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,853,688 (GRCm39) |
C47R |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,091 (GRCm39) |
E664V |
probably damaging |
Het |
| Tmppe |
A |
T |
9: 114,230,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,001,038 (GRCm39) |
D356G |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,725,212 (GRCm39) |
E1839G |
unknown |
Het |
| Trgv4 |
T |
C |
13: 19,369,627 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,536 (GRCm39) |
M250K |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,218,807 (GRCm39) |
L315F |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,746 (GRCm39) |
S247P |
probably benign |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,809 (GRCm39) |
Y101F |
probably benign |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,197 (GRCm39) |
D388G |
|
Het |
| Wdr36 |
C |
T |
18: 32,970,340 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,791,843 (GRCm39) |
I67F |
possibly 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 |
|
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 |
|
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'- GAGTCCTGGCTTATCATCCTAAATC -3'
(R):5'- AAAAGTCACCAGGTGTTTGCTG -3'
Sequencing Primer
(F):5'- AGCTCTTCGTGCTATGGAAG -3'
(R):5'- GCTGGTAACACTGGTAGTTATCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation