Incidental Mutation 'PIT4431001:Atad2b'
ID |
555264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad2b
|
Ensembl Gene |
ENSMUSG00000052812 |
Gene Name |
ATPase family, AAA domain containing 2B |
Synonyms |
1110014E10Rik, D530031C13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4431001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5081795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1235
(T1235A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
AlphaFold |
E9Q166 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045664
AA Change: T1235A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000047445 Gene: ENSMUSG00000052812 AA Change: T1235A
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: 93.2%
- 3x: 90.7%
- 10x: 84.7%
- 20x: 71.4%
|
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 |
4930449I24Rik |
A |
G |
5: 146,439,322 (GRCm39) |
I29V |
probably benign |
Het |
5730455P16Rik |
C |
A |
11: 80,254,750 (GRCm39) |
C357F |
probably damaging |
Het |
Actr1a |
A |
T |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
Adcy1 |
C |
G |
11: 7,014,089 (GRCm39) |
Q164E |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,295,536 (GRCm39) |
S1176R |
possibly damaging |
Het |
Atosb |
C |
A |
4: 43,036,024 (GRCm39) |
G236C |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 59,892,075 (GRCm39) |
D1091G |
probably benign |
Het |
Bmp6 |
T |
C |
13: 38,669,906 (GRCm39) |
S397P |
probably benign |
Het |
C3 |
A |
T |
17: 57,513,242 (GRCm39) |
N1468K |
probably benign |
Het |
Ccnjl |
CGCG |
CGCGGCG |
11: 43,470,534 (GRCm39) |
|
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,764,231 (GRCm39) |
I100V |
probably benign |
Het |
Cep162 |
T |
A |
9: 87,126,398 (GRCm39) |
R171S |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,455,706 (GRCm39) |
H994R |
probably damaging |
Het |
Cntn3 |
T |
A |
6: 102,441,527 (GRCm39) |
K6N |
probably benign |
Het |
Cope |
A |
G |
8: 70,765,417 (GRCm39) |
E289G |
probably damaging |
Het |
Cpne8 |
T |
G |
15: 90,436,178 (GRCm39) |
E279A |
probably damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,923,555 (GRCm39) |
|
probably null |
Het |
Dcp2 |
A |
G |
18: 44,545,638 (GRCm39) |
K333R |
probably benign |
Het |
Dpp6 |
G |
T |
5: 27,836,496 (GRCm39) |
V329F |
probably benign |
Het |
Drc1 |
T |
A |
5: 30,504,417 (GRCm39) |
D186E |
probably damaging |
Het |
Dsc2 |
G |
A |
18: 20,179,334 (GRCm39) |
Q245* |
probably null |
Het |
Eef1e1 |
T |
C |
13: 38,842,938 (GRCm39) |
E11G |
probably damaging |
Het |
Emilin2 |
G |
A |
17: 71,562,990 (GRCm39) |
P915S |
probably benign |
Het |
Fpgt |
A |
G |
3: 154,792,422 (GRCm39) |
M535T |
possibly damaging |
Het |
Fxyd3 |
G |
A |
7: 30,770,780 (GRCm39) |
L37F |
probably damaging |
Het |
Gal3st2c |
T |
A |
1: 93,935,834 (GRCm39) |
I62N |
probably damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,647 (GRCm39) |
I2T |
probably benign |
Het |
Gm9611 |
T |
C |
14: 42,115,888 (GRCm39) |
M169V |
|
Het |
Ints3 |
G |
A |
3: 90,303,767 (GRCm39) |
T720I |
probably damaging |
Het |
Itpr2 |
T |
G |
6: 146,256,218 (GRCm39) |
M992L |
probably benign |
Het |
L3mbtl2 |
T |
A |
15: 81,560,508 (GRCm39) |
H256Q |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,977,426 (GRCm39) |
T1918A |
probably damaging |
Het |
Lpcat2b |
G |
A |
5: 107,581,997 (GRCm39) |
G442D |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,894,767 (GRCm39) |
V2268M |
|
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Mtr |
C |
T |
13: 12,227,329 (GRCm39) |
V772M |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,159,853 (GRCm39) |
I294V |
possibly damaging |
Het |
Ncam1 |
A |
T |
9: 49,709,993 (GRCm39) |
F13I |
probably benign |
Het |
Or4a75 |
T |
C |
2: 89,448,201 (GRCm39) |
I112V |
probably benign |
Het |
Paqr6 |
A |
T |
3: 88,273,084 (GRCm39) |
I52F |
possibly damaging |
Het |
Pde2a |
T |
G |
7: 101,151,104 (GRCm39) |
V271G |
probably damaging |
Het |
Pde7b |
T |
C |
10: 20,276,291 (GRCm39) |
H405R |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,929,786 (GRCm39) |
Y214C |
probably damaging |
Het |
Pmp22 |
T |
C |
11: 63,042,067 (GRCm39) |
F101L |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,188,318 (GRCm39) |
L520P |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,124,960 (GRCm39) |
T295A |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,475 (GRCm39) |
I415N |
probably damaging |
Het |
Ptcd2 |
T |
A |
13: 99,476,527 (GRCm39) |
R71* |
probably null |
Het |
Ptgs1 |
A |
T |
2: 36,130,692 (GRCm39) |
N197I |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,386,047 (GRCm39) |
D333G |
probably damaging |
Het |
Rfx7 |
T |
A |
9: 72,525,253 (GRCm39) |
H814Q |
probably benign |
Het |
Rptn |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
3: 93,304,704 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
T |
12: 104,231,432 (GRCm39) |
H23L |
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,443,290 (GRCm39) |
V860E |
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,032,124 (GRCm39) |
Y592N |
possibly damaging |
Het |
Slco2a1 |
T |
C |
9: 102,927,467 (GRCm39) |
F120S |
probably damaging |
Het |
Smyd4 |
T |
C |
11: 75,294,339 (GRCm39) |
F740S |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,765,396 (GRCm39) |
Y242C |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,195,509 (GRCm39) |
K288R |
probably benign |
Het |
Tbc1d17 |
A |
G |
7: 44,494,498 (GRCm39) |
S246P |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,688,642 (GRCm39) |
T2315M |
probably damaging |
Het |
Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
Thumpd3 |
T |
A |
6: 113,036,939 (GRCm39) |
N279K |
probably benign |
Het |
Tmed5 |
T |
A |
5: 108,277,887 (GRCm39) |
H95L |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,674 (GRCm39) |
L443P |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,720,328 (GRCm39) |
Q97K |
probably benign |
Het |
Unc13c |
C |
A |
9: 73,656,829 (GRCm39) |
C1124F |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,896,958 (GRCm39) |
T102A |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
Xkr5 |
A |
T |
8: 18,984,361 (GRCm39) |
S394T |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,390,326 (GRCm39) |
C4747Y |
unknown |
Het |
Zfp804a |
T |
C |
2: 82,089,536 (GRCm39) |
F1122L |
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 |
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 |
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'- CTATGACCATACAGAGGACAGG -3'
(R):5'- ACTTTTCTCCACCATCAGGCAG -3'
Sequencing Primer
(F):5'- CCATACAGAGGACAGGAAGTTGC -3'
(R):5'- GCAGAGGAACTACTTCAAGAACTCTG -3'
|
Posted On |
2019-06-07 |