Incidental Mutation 'R9656:Atad5'
ID |
727339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9656 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
G to T
at 79980542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017694
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
coiled coil region
|
665 |
697 |
N/A |
INTRINSIC |
low complexity region
|
798 |
807 |
N/A |
INTRINSIC |
AAA
|
1111 |
1347 |
5.14e-5 |
SMART |
Blast:AAA
|
1409 |
1526 |
1e-31 |
BLAST |
low complexity region
|
1573 |
1583 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108239
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
311 |
N/A |
INTRINSIC |
low complexity region
|
327 |
342 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
coiled coil region
|
665 |
697 |
N/A |
INTRINSIC |
low complexity region
|
798 |
807 |
N/A |
INTRINSIC |
AAA
|
1108 |
1344 |
5.14e-5 |
SMART |
Blast:AAA
|
1406 |
1523 |
1e-31 |
BLAST |
low complexity region
|
1570 |
1580 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for a gene trap allele exhibit genomic instability, premature death, and a wide spectrum of spontaneous tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
G |
A |
8: 10,037,991 (GRCm39) |
G196E |
possibly damaging |
Het |
Atxn2 |
C |
T |
5: 121,922,061 (GRCm39) |
T635I |
possibly damaging |
Het |
Bbs10 |
T |
A |
10: 111,135,545 (GRCm39) |
N219K |
probably benign |
Het |
Bsn |
T |
A |
9: 107,994,407 (GRCm39) |
T623S |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,857,318 (GRCm39) |
L364P |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,985 (GRCm39) |
D164G |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,235,816 (GRCm39) |
M631K |
|
Het |
Col1a1 |
T |
A |
11: 94,839,372 (GRCm39) |
S1006T |
unknown |
Het |
Cpe |
T |
C |
8: 65,047,980 (GRCm39) |
Y428C |
probably damaging |
Het |
Cyp2d26 |
C |
A |
15: 82,677,059 (GRCm39) |
V122L |
probably benign |
Het |
Fam114a1 |
T |
C |
5: 65,163,246 (GRCm39) |
I181T |
probably benign |
Het |
Fam83b |
A |
G |
9: 76,452,863 (GRCm39) |
V68A |
probably benign |
Het |
Fanca |
A |
C |
8: 124,031,482 (GRCm39) |
V403G |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,397,471 (GRCm39) |
H872R |
possibly damaging |
Het |
Grpel2 |
G |
T |
18: 61,859,361 (GRCm39) |
R4S |
probably benign |
Het |
Gstm1 |
T |
C |
3: 107,925,072 (GRCm39) |
Y7C |
probably damaging |
Het |
Hace1 |
A |
T |
10: 45,547,545 (GRCm39) |
I497F |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,279,196 (GRCm39) |
V3093A |
probably benign |
Het |
Ighv3-4 |
A |
T |
12: 114,217,295 (GRCm39) |
F99I |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,299,839 (GRCm39) |
M963V |
probably null |
Het |
Krt12 |
T |
C |
11: 99,309,471 (GRCm39) |
E263G |
|
Het |
L1td1 |
T |
C |
4: 98,622,223 (GRCm39) |
F262L |
probably benign |
Het |
Lrp2bp |
A |
G |
8: 46,466,158 (GRCm39) |
H110R |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,274,846 (GRCm39) |
I135T |
probably damaging |
Het |
Nfatc3 |
G |
A |
8: 106,830,766 (GRCm39) |
R695H |
probably damaging |
Het |
Nkx1-2 |
T |
A |
7: 132,201,228 (GRCm39) |
K10* |
probably null |
Het |
Or2t44 |
G |
A |
11: 58,677,635 (GRCm39) |
A192T |
possibly damaging |
Het |
Or4f54 |
A |
T |
2: 111,122,633 (GRCm39) |
T7S |
probably benign |
Het |
Or5b110-ps1 |
T |
C |
19: 13,260,035 (GRCm39) |
H129R |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,247 (GRCm39) |
Y36C |
probably damaging |
Het |
Otog |
A |
G |
7: 45,959,567 (GRCm39) |
T719A |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,617,818 (GRCm39) |
I3216M |
probably benign |
Het |
Pygm |
A |
G |
19: 6,438,187 (GRCm39) |
D252G |
probably benign |
Het |
Rae1 |
T |
A |
2: 172,854,590 (GRCm39) |
Y332* |
probably null |
Het |
Rbm12 |
A |
T |
2: 155,940,121 (GRCm39) |
D50E |
unknown |
Het |
Rbm6 |
G |
A |
9: 107,656,778 (GRCm39) |
R1000W |
probably damaging |
Het |
Rd3l |
A |
T |
12: 111,946,614 (GRCm39) |
V54E |
possibly damaging |
Het |
Rft1 |
T |
C |
14: 30,404,714 (GRCm39) |
V370A |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,709,679 (GRCm39) |
I449M |
probably benign |
Het |
Satb1 |
A |
T |
17: 52,112,264 (GRCm39) |
S117T |
possibly damaging |
Het |
Slc24a2 |
T |
C |
4: 86,968,144 (GRCm39) |
Y370C |
probably damaging |
Het |
Slc5a4b |
C |
A |
10: 75,944,391 (GRCm39) |
V85L |
probably damaging |
Het |
Snrpn |
A |
T |
7: 59,635,715 (GRCm39) |
V95E |
possibly damaging |
Het |
Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
Spata33 |
A |
T |
8: 123,948,758 (GRCm39) |
N130I |
possibly damaging |
Het |
Spmip2 |
T |
A |
3: 79,313,183 (GRCm39) |
F86I |
probably benign |
Het |
Tap1 |
A |
G |
17: 34,412,525 (GRCm39) |
S521G |
probably damaging |
Het |
Tbc1d13 |
C |
T |
2: 30,032,429 (GRCm39) |
T180I |
possibly damaging |
Het |
Tgm7 |
G |
A |
2: 120,940,191 (GRCm39) |
|
probably benign |
Het |
Tiam1 |
A |
G |
16: 89,664,459 (GRCm39) |
M583T |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Vmn1r43 |
A |
T |
6: 89,847,440 (GRCm39) |
H15Q |
possibly damaging |
Het |
Zfp329 |
A |
T |
7: 12,544,417 (GRCm39) |
V369E |
probably damaging |
Het |
Zfp467 |
T |
A |
6: 48,419,603 (GRCm39) |
E35V |
possibly damaging |
Het |
|
Other mutations in Atad5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00753:Atad5
|
APN |
11 |
80,023,684 (GRCm39) |
missense |
probably benign |
0.22 |
IGL00916:Atad5
|
APN |
11 |
80,009,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Atad5
|
APN |
11 |
79,986,390 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01601:Atad5
|
APN |
11 |
79,986,343 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01916:Atad5
|
APN |
11 |
80,003,665 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02028:Atad5
|
APN |
11 |
80,024,936 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02095:Atad5
|
APN |
11 |
79,985,533 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02142:Atad5
|
APN |
11 |
79,985,023 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02206:Atad5
|
APN |
11 |
79,985,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Atad5
|
APN |
11 |
79,985,453 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02858:Atad5
|
APN |
11 |
79,980,601 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02962:Atad5
|
APN |
11 |
79,999,405 (GRCm39) |
missense |
possibly damaging |
0.86 |
PIT4362001:Atad5
|
UTSW |
11 |
80,002,393 (GRCm39) |
missense |
probably benign |
0.04 |
R0040:Atad5
|
UTSW |
11 |
79,988,840 (GRCm39) |
missense |
probably benign |
|
R0157:Atad5
|
UTSW |
11 |
79,980,643 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0211:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.00 |
R0211:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.00 |
R0319:Atad5
|
UTSW |
11 |
80,011,616 (GRCm39) |
splice site |
probably benign |
|
R0401:Atad5
|
UTSW |
11 |
80,011,525 (GRCm39) |
missense |
probably benign |
0.11 |
R0426:Atad5
|
UTSW |
11 |
80,003,658 (GRCm39) |
missense |
probably benign |
0.14 |
R0452:Atad5
|
UTSW |
11 |
79,997,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R0496:Atad5
|
UTSW |
11 |
79,991,182 (GRCm39) |
missense |
probably benign |
0.08 |
R1691:Atad5
|
UTSW |
11 |
79,986,358 (GRCm39) |
missense |
probably benign |
0.00 |
R1812:Atad5
|
UTSW |
11 |
80,023,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R2070:Atad5
|
UTSW |
11 |
79,988,878 (GRCm39) |
splice site |
probably null |
|
R2071:Atad5
|
UTSW |
11 |
79,988,878 (GRCm39) |
splice site |
probably null |
|
R2153:Atad5
|
UTSW |
11 |
79,997,203 (GRCm39) |
missense |
probably benign |
0.04 |
R2415:Atad5
|
UTSW |
11 |
79,985,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R3917:Atad5
|
UTSW |
11 |
79,994,120 (GRCm39) |
missense |
probably null |
0.97 |
R4025:Atad5
|
UTSW |
11 |
80,011,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4464:Atad5
|
UTSW |
11 |
79,991,137 (GRCm39) |
splice site |
probably null |
|
R4561:Atad5
|
UTSW |
11 |
79,986,715 (GRCm39) |
missense |
probably benign |
0.01 |
R4579:Atad5
|
UTSW |
11 |
79,986,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Atad5
|
UTSW |
11 |
80,005,137 (GRCm39) |
splice site |
probably null |
|
R4853:Atad5
|
UTSW |
11 |
79,986,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Atad5
|
UTSW |
11 |
80,011,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Atad5
|
UTSW |
11 |
80,011,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R5054:Atad5
|
UTSW |
11 |
79,985,502 (GRCm39) |
missense |
probably benign |
0.10 |
R5226:Atad5
|
UTSW |
11 |
79,985,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R5397:Atad5
|
UTSW |
11 |
80,002,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Atad5
|
UTSW |
11 |
80,014,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R5571:Atad5
|
UTSW |
11 |
80,002,382 (GRCm39) |
missense |
probably benign |
0.05 |
R5575:Atad5
|
UTSW |
11 |
79,991,149 (GRCm39) |
missense |
probably benign |
0.02 |
R5857:Atad5
|
UTSW |
11 |
80,022,155 (GRCm39) |
missense |
probably benign |
0.06 |
R5927:Atad5
|
UTSW |
11 |
80,018,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Atad5
|
UTSW |
11 |
79,985,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Atad5
|
UTSW |
11 |
79,986,835 (GRCm39) |
nonsense |
probably null |
|
R6102:Atad5
|
UTSW |
11 |
80,002,398 (GRCm39) |
critical splice donor site |
probably null |
|
R6254:Atad5
|
UTSW |
11 |
80,018,215 (GRCm39) |
missense |
probably damaging |
0.96 |
R6562:Atad5
|
UTSW |
11 |
80,024,032 (GRCm39) |
missense |
probably benign |
0.26 |
R6744:Atad5
|
UTSW |
11 |
80,024,858 (GRCm39) |
missense |
probably benign |
0.00 |
R7092:Atad5
|
UTSW |
11 |
80,011,546 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7202:Atad5
|
UTSW |
11 |
79,980,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R7345:Atad5
|
UTSW |
11 |
79,986,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Atad5
|
UTSW |
11 |
79,994,169 (GRCm39) |
critical splice donor site |
probably null |
|
R7358:Atad5
|
UTSW |
11 |
80,023,862 (GRCm39) |
missense |
probably benign |
0.32 |
R7420:Atad5
|
UTSW |
11 |
79,986,688 (GRCm39) |
missense |
probably benign |
0.06 |
R7453:Atad5
|
UTSW |
11 |
80,009,969 (GRCm39) |
critical splice donor site |
probably null |
|
R7990:Atad5
|
UTSW |
11 |
80,024,079 (GRCm39) |
nonsense |
probably null |
|
R8012:Atad5
|
UTSW |
11 |
79,985,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Atad5
|
UTSW |
11 |
79,985,996 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8421:Atad5
|
UTSW |
11 |
79,985,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R8842:Atad5
|
UTSW |
11 |
80,000,910 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8918:Atad5
|
UTSW |
11 |
79,986,473 (GRCm39) |
missense |
probably benign |
0.02 |
R8943:Atad5
|
UTSW |
11 |
79,986,524 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8944:Atad5
|
UTSW |
11 |
79,986,524 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9134:Atad5
|
UTSW |
11 |
80,023,931 (GRCm39) |
missense |
probably benign |
0.00 |
R9137:Atad5
|
UTSW |
11 |
79,986,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Atad5
|
UTSW |
11 |
79,986,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R9372:Atad5
|
UTSW |
11 |
79,985,094 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9404:Atad5
|
UTSW |
11 |
80,005,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Atad5
|
UTSW |
11 |
80,023,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9471:Atad5
|
UTSW |
11 |
80,023,524 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9577:Atad5
|
UTSW |
11 |
80,004,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
R9661:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
RF003:Atad5
|
UTSW |
11 |
80,002,386 (GRCm39) |
missense |
probably damaging |
0.99 |
X0024:Atad5
|
UTSW |
11 |
80,023,609 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Atad5
|
UTSW |
11 |
79,985,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCTGGAGAATCTGCCCCG -3'
(R):5'- CCACACAAAATTATGACTGTGGGTC -3'
Sequencing Primer
(F):5'- GGCACCTTGTATTGTCCCG -3'
(R):5'- ACTGTGGGTCATCGTGTCCC -3'
|
Posted On |
2022-10-06 |