Incidental Mutation 'R8976:Atad2b'
| ID |
683454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
068810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8976 (G1)
|
| Quality Score |
165.009 |
|
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 A
at 4967923 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (60/61) |
| 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 |
|---|
| Arhgef11 |
A |
G |
3: 87,635,321 (GRCm39) |
I906V |
probably benign |
Het |
| Atr |
T |
A |
9: 95,772,819 (GRCm39) |
D1243E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,223,117 (GRCm39) |
H73Q |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,197,407 (GRCm39) |
G993* |
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,118 (GRCm39) |
I883F |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Crem |
A |
G |
18: 3,268,088 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,479,399 (GRCm39) |
K62E |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,917,666 (GRCm39) |
I4132F |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,135,505 (GRCm39) |
P423S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,969 (GRCm39) |
V572L |
probably benign |
Het |
| F12 |
T |
A |
13: 55,569,777 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
G |
2: 91,466,738 (GRCm39) |
S2P |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,329,451 (GRCm39) |
E436G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,484,332 (GRCm39) |
V3190A |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,901,882 (GRCm38) |
|
probably null |
Het |
| Frs3 |
A |
T |
17: 48,009,546 (GRCm39) |
D9V |
probably benign |
Het |
| Galnt17 |
T |
G |
5: 130,935,543 (GRCm39) |
E380A |
probably benign |
Het |
| Glrb |
A |
C |
3: 80,758,363 (GRCm39) |
V350G |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,486 (GRCm39) |
K1336M |
possibly damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,650 (GRCm39) |
V159E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,659 (GRCm39) |
E310G |
probably damaging |
Het |
| Il2rb |
C |
T |
15: 78,370,681 (GRCm39) |
D145N |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,692,005 (GRCm39) |
I535V |
probably benign |
Het |
| Keap1 |
A |
C |
9: 21,142,663 (GRCm39) |
L531V |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,957 (GRCm39) |
W456R |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,329 (GRCm39) |
H1910Q |
probably damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,334 (GRCm39) |
E8K |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,903,334 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,363 (GRCm39) |
S26G |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,697,466 (GRCm39) |
S265P |
possibly damaging |
Het |
| Or5p73 |
T |
A |
7: 108,064,630 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,885 (GRCm39) |
V284A |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,418 (GRCm39) |
I248T |
possibly damaging |
Het |
| Or7g22 |
T |
A |
9: 19,049,141 (GRCm39) |
M284K |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,651,396 (GRCm39) |
|
probably benign |
Het |
| Plekha8 |
A |
T |
6: 54,607,521 (GRCm39) |
E376V |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,638,037 (GRCm39) |
V144A |
possibly damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,977 (GRCm39) |
N101I |
probably damaging |
Het |
| Prr18 |
T |
C |
17: 8,560,047 (GRCm39) |
S68P |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,461,669 (GRCm39) |
R1153H |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,922,789 (GRCm39) |
F293L |
possibly damaging |
Het |
| Shank3 |
A |
G |
15: 89,442,381 (GRCm39) |
E1758G |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,057,851 (GRCm39) |
I167N |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,242,411 (GRCm39) |
S663P |
probably damaging |
Het |
| Slc49a3 |
A |
C |
5: 108,589,897 (GRCm39) |
S502A |
probably benign |
Het |
| Spa17 |
C |
T |
9: 37,523,254 (GRCm39) |
R11Q |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,413 (GRCm39) |
V240A |
probably benign |
Het |
| Srl |
A |
T |
16: 4,300,894 (GRCm39) |
Y726N |
probably damaging |
Het |
| Ssbp4 |
A |
T |
8: 71,052,336 (GRCm39) |
|
probably null |
Het |
| Surf1 |
A |
T |
2: 26,805,767 (GRCm39) |
C48S |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem176b |
A |
G |
6: 48,812,600 (GRCm39) |
S122P |
probably damaging |
Het |
| Trim23 |
G |
T |
13: 104,328,545 (GRCm39) |
L355F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,545,110 (GRCm39) |
T32664M |
probably damaging |
Het |
| Ulk3 |
T |
A |
9: 57,502,220 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,511,169 (GRCm39) |
H59R |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,719 (GRCm39) |
I91V |
probably benign |
Het |
| Vmn2r10 |
T |
A |
5: 109,145,479 (GRCm39) |
N543Y |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,694,752 (GRCm39) |
R150H |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,079 (GRCm39) |
Y585H |
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 |
|
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 |
|
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'- GGCTGGACCATGGTGAACAC -3'
(R):5'- CGTGGACTCGAGTGCTGTTC -3'
Sequencing Primer
(F):5'- GAACACCCGGAAGAGCTCTCTG -3'
(R):5'- CTCGAGTGCTGTTCTTTACACAAAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation