Incidental Mutation 'R2071:Atad5'
| ID |
227154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad5
|
| Ensembl Gene |
ENSMUSG00000017550 |
| Gene Name |
ATPase family, AAA domain containing 5 |
| Synonyms |
LOC237877, C130052G03Rik |
| MMRRC Submission |
040076-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2071 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 79988878 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 null
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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154168
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,474 (GRCm39) |
H283Q |
probably damaging |
Het |
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,897,266 (GRCm39) |
T310A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,671,594 (GRCm39) |
D92G |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,798,561 (GRCm39) |
A30T |
probably benign |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,307,488 (GRCm39) |
V1474A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,466 (GRCm39) |
K24E |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,860 (GRCm39) |
R323G |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,112 (GRCm39) |
|
probably benign |
Het |
| Chga |
A |
T |
12: 102,529,122 (GRCm39) |
K366N |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,309,572 (GRCm39) |
K515E |
probably null |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Eif1ad8 |
T |
A |
12: 87,563,822 (GRCm39) |
F52L |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,473,012 (GRCm39) |
F252S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,312,775 (GRCm39) |
K846E |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,514 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,210,772 (GRCm39) |
Y661F |
possibly damaging |
Het |
| Hhip |
A |
G |
8: 80,783,931 (GRCm39) |
F72L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,231,136 (GRCm39) |
L181P |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,834,981 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
T |
5: 123,932,340 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
G |
T |
8: 85,812,013 (GRCm39) |
V156L |
possibly damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,823 (GRCm39) |
D517G |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,135,108 (GRCm39) |
L287P |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,907,843 (GRCm39) |
E238V |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,349,725 (GRCm39) |
I52N |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Nap1l1 |
C |
T |
10: 111,328,761 (GRCm39) |
T230I |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,181 (GRCm39) |
F28L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Nudt13 |
T |
A |
14: 20,354,045 (GRCm39) |
D36E |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pde10a |
A |
T |
17: 9,180,827 (GRCm39) |
I754F |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,953,058 (GRCm39) |
V567E |
possibly damaging |
Het |
| Pou3f2 |
A |
G |
4: 22,488,076 (GRCm39) |
V19A |
probably benign |
Het |
| Pramel34 |
T |
G |
5: 93,784,375 (GRCm39) |
Q363P |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,556,081 (GRCm39) |
I264T |
probably benign |
Het |
| Ptprn |
C |
A |
1: 75,231,788 (GRCm39) |
G504C |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,700,349 (GRCm39) |
D1615E |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,232 (GRCm39) |
M134T |
probably benign |
Het |
| Slc10a4 |
T |
C |
5: 73,164,840 (GRCm39) |
L144P |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,370 (GRCm39) |
L131P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,252,743 (GRCm39) |
E259D |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,890,753 (GRCm39) |
D1922G |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,979,623 (GRCm39) |
I243N |
possibly damaging |
Het |
| Specc1 |
A |
C |
11: 62,008,701 (GRCm39) |
K152N |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tcstv2b |
A |
T |
13: 120,373,836 (GRCm39) |
D151E |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,091,739 (GRCm39) |
K601E |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,030 (GRCm39) |
G230R |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,312,244 (GRCm39) |
Y183F |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Vcp |
A |
G |
4: 42,995,894 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,995 (GRCm39) |
F70L |
probably benign |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,056 (GRCm39) |
I283L |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,363 (GRCm39) |
F364L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,334,220 (GRCm39) |
L266P |
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 |
|
|
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 |
|
R9656:Atad5
|
UTSW |
11 |
79,980,542 (GRCm39) |
start gained |
probably benign |
|
|
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'- CAAAGTGATGAGAATTGGTTTTGCAG -3'
(R):5'- TGATTTTAGCCAACAAGTTCAGG -3'
Sequencing Primer
(F):5'- ATTGGTTTTGCAGTTTGTTTAAATTG -3'
(R):5'- TGTTGAGTTCAAAGCCAGCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation