Incidental Mutation 'R1530:Atad2b'
| ID |
166571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
039569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 4992018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 206
(R206*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045664
AA Change: R206*
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R206*
| 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: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
T |
C |
5: 137,567,640 (GRCm39) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,257,137 (GRCm39) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 50,118,479 (GRCm39) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,671,285 (GRCm39) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,697,358 (GRCm39) |
M321K |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,088,351 (GRCm39) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,533,161 (GRCm39) |
R272G |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,103,065 (GRCm39) |
I70N |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,521 (GRCm39) |
D871G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,312,689 (GRCm39) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,952,663 (GRCm39) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,969,937 (GRCm39) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,802,612 (GRCm39) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,621,074 (GRCm39) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,662 (GRCm39) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,949,843 (GRCm39) |
I49V |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,710,533 (GRCm39) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,139,264 (GRCm39) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,984,973 (GRCm39) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,976 (GRCm39) |
G255V |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,374,737 (GRCm39) |
I704N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,134 (GRCm39) |
S193P |
probably benign |
Het |
| Gak |
A |
G |
5: 108,772,059 (GRCm39) |
V86A |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,269,631 (GRCm39) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,475,355 (GRCm39) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,846,961 (GRCm39) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,606,612 (GRCm39) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,634 (GRCm39) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,510,409 (GRCm39) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,351,521 (GRCm39) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 107,922,761 (GRCm39) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,619,494 (GRCm39) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,411,970 (GRCm39) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,097,150 (GRCm39) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,513,484 (GRCm39) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,056,344 (GRCm39) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,172,384 (GRCm39) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,168 (GRCm39) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 106,005,858 (GRCm39) |
V84A |
probably benign |
Het |
| Or2y16 |
C |
T |
11: 49,334,732 (GRCm39) |
S18L |
probably benign |
Het |
| Or4c101 |
A |
T |
2: 88,389,827 (GRCm39) |
I5F |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,620 (GRCm39) |
I14T |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,473 (GRCm39) |
V1068A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,349,671 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,936,026 (GRCm39) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,311,996 (GRCm39) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,051,395 (GRCm39) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,552,009 (GRCm39) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,628 (GRCm39) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,793,458 (GRCm39) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,086,874 (GRCm39) |
V34I |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,052 (GRCm39) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,148,738 (GRCm39) |
S934T |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,915,793 (GRCm39) |
|
probably null |
Het |
| St3gal4 |
T |
C |
9: 34,963,592 (GRCm39) |
I239V |
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,295,674 (GRCm39) |
T399I |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,669,674 (GRCm39) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,122 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,504 (GRCm39) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm39) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,993,202 (GRCm39) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,866,090 (GRCm39) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,178,312 (GRCm39) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,286,651 (GRCm39) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,319,202 (GRCm39) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,879,026 (GRCm39) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,472,856 (GRCm39) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,447 (GRCm39) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,369,103 (GRCm39) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,751,262 (GRCm39) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,675,121 (GRCm39) |
P2057L |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-04-13 |
Incidental Mutation