Incidental Mutation 'R7460:Atad2b'
| ID |
578409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2b
|
| Ensembl Gene |
ENSMUSG00000052812 |
| Gene Name |
ATPase family, AAA domain containing 2B |
| Synonyms |
1110014E10Rik, D530031C13Rik |
| MMRRC Submission |
045534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4967353-5097394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5002660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 343
(R343S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045664]
|
| AlphaFold |
E9Q166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045664
AA Change: R343S
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R343S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
T |
A |
1: 60,473,466 (GRCm39) |
V61D |
probably damaging |
Het |
| Agrn |
C |
A |
4: 156,258,881 (GRCm39) |
V915L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,040,212 (GRCm39) |
V476A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,837,861 (GRCm39) |
L720P |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,892,776 (GRCm39) |
T313S |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,932,457 (GRCm39) |
E76G |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,762 (GRCm39) |
F610I |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,923 (GRCm39) |
V58D |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,247 (GRCm39) |
D2011G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,275 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,281,440 (GRCm39) |
|
probably null |
Het |
| Disp2 |
A |
G |
2: 118,620,261 (GRCm39) |
H331R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,679 (GRCm39) |
T1279A |
probably benign |
Het |
| Dync1i2 |
T |
C |
2: 71,081,230 (GRCm39) |
I473T |
probably damaging |
Het |
| Fam114a1 |
T |
G |
5: 65,196,050 (GRCm39) |
V520G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,169,789 (GRCm39) |
D2990V |
probably damaging |
Het |
| Fbh1 |
C |
T |
2: 11,761,496 (GRCm39) |
G597D |
probably benign |
Het |
| Fdxr |
A |
C |
11: 115,167,680 (GRCm39) |
S12A |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,914,105 (GRCm39) |
R9W |
possibly damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,656 (GRCm39) |
D103V |
|
Het |
| Hepacam2 |
G |
A |
6: 3,487,199 (GRCm39) |
P53S |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,847 (GRCm39) |
N625D |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,052,815 (GRCm39) |
T21A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,074,013 (GRCm39) |
C930R |
|
Het |
| Lrp1b |
T |
C |
2: 40,488,478 (GRCm39) |
T4536A |
|
Het |
| Lrrc27 |
T |
A |
7: 138,803,574 (GRCm39) |
V166E |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,443 (GRCm39) |
V90I |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,219,837 (GRCm39) |
G339D |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,734,109 (GRCm39) |
M580K |
unknown |
Het |
| Mrc1 |
T |
C |
2: 14,253,680 (GRCm39) |
S234P |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,811 (GRCm39) |
V75I |
not run |
Het |
| Mrtfb |
G |
T |
16: 13,218,840 (GRCm39) |
Q495H |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,807,913 (GRCm39) |
D1845G |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,672 (GRCm39) |
I231F |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,028 (GRCm39) |
M223K |
probably benign |
Het |
| Or7a40 |
C |
A |
16: 16,491,030 (GRCm39) |
A272S |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,649 (GRCm39) |
S160P |
possibly damaging |
Het |
| Pdhx |
G |
A |
2: 102,877,124 (GRCm39) |
T95M |
probably damaging |
Het |
| Pigb |
C |
T |
9: 72,945,957 (GRCm39) |
V72I |
probably damaging |
Het |
| Prr7 |
C |
A |
13: 55,620,166 (GRCm39) |
P110Q |
unknown |
Het |
| Psg22 |
A |
G |
7: 18,458,329 (GRCm39) |
D340G |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,212,301 (GRCm39) |
S908P |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,994,299 (GRCm39) |
Y1348C |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,376,963 (GRCm39) |
I506T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,720,596 (GRCm39) |
Y2684F |
probably benign |
Het |
| Sdr16c6 |
A |
G |
4: 4,076,575 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,993,545 (GRCm39) |
T743A |
possibly damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,434,014 (GRCm39) |
I275V |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,134,674 (GRCm39) |
I467T |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,226,363 (GRCm39) |
D1016G |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,554,933 (GRCm39) |
V317A |
|
Het |
| Tle3 |
A |
G |
9: 61,320,366 (GRCm39) |
H598R |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,694,949 (GRCm39) |
L341P |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trappc14 |
G |
A |
5: 138,260,991 (GRCm39) |
T218M |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,249,168 (GRCm39) |
D866V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,581,617 (GRCm39) |
I23092T |
probably damaging |
Het |
| U2surp |
C |
A |
9: 95,344,877 (GRCm39) |
V944L |
unknown |
Het |
| Urgcp |
T |
C |
11: 5,666,622 (GRCm39) |
H615R |
possibly damaging |
Het |
| Vps45 |
T |
A |
3: 95,955,699 (GRCm39) |
Y97F |
probably benign |
Het |
| Zc3h12c |
T |
C |
9: 52,055,402 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,808,677 (GRCm39) |
H623L |
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 |
|
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 |
|
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'- CTTGGGTTAGGAGCAGCACTAC -3'
(R):5'- AGATCACAATATGGGATAGATAGCC -3'
Sequencing Primer
(F):5'- TTAGGAGCAGCACTACCAAAG -3'
(R):5'- ATTCTGAGTTCAAGGCCAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation