Incidental Mutation 'R6254:Atad5'
| ID |
506007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad5
|
| Ensembl Gene |
ENSMUSG00000017550 |
| Gene Name |
ATPase family, AAA domain containing 5 |
| Synonyms |
LOC237877, C130052G03Rik |
| MMRRC Submission |
044371-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80089400-80135794 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80127389 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1389
(I1389F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
| AlphaFold |
Q4QY64 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017694
AA Change: I1392F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: I1392F
| 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 damaging
Transcript: ENSMUST00000108239
AA Change: I1389F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: I1389F
| 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
|
| Meta Mutation Damage Score |
0.3227 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.4%
|
| Validation Efficiency |
100% (82/82) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,489,570 (GRCm38) |
L2F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,941,804 (GRCm38) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,839,233 (GRCm38) |
D369A |
probably damaging |
Het |
| App |
T |
C |
16: 84,978,177 (GRCm38) |
E599G |
probably damaging |
Het |
| Asphd1 |
C |
T |
7: 126,948,868 (GRCm38) |
V88I |
probably benign |
Het |
| Blm |
T |
C |
7: 80,480,342 (GRCm38) |
N950S |
probably benign |
Het |
| Bsn |
A |
T |
9: 108,111,866 (GRCm38) |
M2229K |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,509,216 (GRCm38) |
M181V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,329,163 (GRCm38) |
|
probably null |
Het |
| Cdh1 |
T |
A |
8: 106,663,798 (GRCm38) |
V590D |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,364,032 (GRCm38) |
T160M |
probably damaging |
Het |
| Cfap97d2 |
A |
G |
8: 13,706,043 (GRCm38) |
D26G |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,754,390 (GRCm38) |
I156T |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 55,006,456 (GRCm38) |
M325V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,802,134 (GRCm38) |
I116T |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,005,463 (GRCm38) |
K488R |
probably benign |
Het |
| Edil3 |
T |
A |
13: 89,319,729 (GRCm38) |
I451N |
probably damaging |
Het |
| Exph5 |
T |
G |
9: 53,372,710 (GRCm38) |
S364A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 29,154,517 (GRCm38) |
S209P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,145 (GRCm38) |
L2854F |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,505,500 (GRCm38) |
|
probably null |
Het |
| Fermt2 |
T |
C |
14: 45,476,059 (GRCm38) |
D205G |
probably damaging |
Het |
| Fmnl1 |
G |
A |
11: 103,196,315 (GRCm38) |
|
probably benign |
Het |
| Fn3k |
A |
G |
11: 121,435,068 (GRCm38) |
E27G |
probably damaging |
Het |
| Foxj2 |
A |
G |
6: 122,838,139 (GRCm38) |
H378R |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 152,232,408 (GRCm38) |
K140E |
possibly damaging |
Het |
| Gm7694 |
A |
T |
1: 170,302,534 (GRCm38) |
C98* |
probably null |
Het |
| Golgb1 |
T |
C |
16: 36,913,978 (GRCm38) |
S1196P |
probably damaging |
Het |
| Gpm6a |
G |
A |
8: 55,047,396 (GRCm38) |
|
probably null |
Het |
| Hltf |
T |
A |
3: 20,063,829 (GRCm38) |
N80K |
possibly damaging |
Het |
| Il1rap |
G |
A |
16: 26,695,270 (GRCm38) |
R251H |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,049,060 (GRCm38) |
D688E |
probably benign |
Het |
| Itgal |
T |
A |
7: 127,325,203 (GRCm38) |
N897K |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,624,982 (GRCm38) |
|
probably null |
Het |
| Kcnk13 |
A |
G |
12: 99,965,372 (GRCm38) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,170,269 (GRCm38) |
L248P |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,349,874 (GRCm38) |
E1254G |
possibly damaging |
Het |
| Ldah |
G |
A |
12: 8,275,912 (GRCm38) |
|
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,620,087 (GRCm38) |
D406V |
possibly damaging |
Het |
| Lratd2 |
A |
G |
15: 60,823,801 (GRCm38) |
I32T |
probably damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,215,451 (GRCm38) |
V480E |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,358,134 (GRCm38) |
R1142H |
probably benign |
Het |
| Mtmr3 |
G |
A |
11: 4,497,381 (GRCm38) |
Q360* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,651,115 (GRCm38) |
N252S |
probably benign |
Het |
| Naa20 |
T |
C |
2: 145,903,320 (GRCm38) |
L4P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,222,961 (GRCm38) |
I4274L |
probably benign |
Het |
| Noa1 |
A |
T |
5: 77,309,669 (GRCm38) |
F130I |
probably benign |
Het |
| Nrg4 |
G |
T |
9: 55,236,512 (GRCm38) |
H87N |
possibly damaging |
Het |
| Or51ai2 |
T |
A |
7: 103,937,534 (GRCm38) |
H51Q |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,904,505 (GRCm38) |
Y183F |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,845,601 (GRCm38) |
E536K |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,421,718 (GRCm38) |
S34P |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,689,406 (GRCm38) |
T71A |
possibly damaging |
Het |
| Plaur |
T |
A |
7: 24,466,800 (GRCm38) |
C99S |
possibly damaging |
Het |
| Plekha5 |
G |
A |
6: 140,586,436 (GRCm38) |
G501E |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,977,960 (GRCm38) |
V614M |
probably benign |
Het |
| Ppp2r3a |
T |
C |
9: 101,148,587 (GRCm38) |
D307G |
possibly damaging |
Het |
| Prl3d3 |
C |
T |
13: 27,157,470 (GRCm38) |
S28F |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,157,915 (GRCm38) |
M197V |
probably benign |
Het |
| Ptk7 |
C |
A |
17: 46,572,642 (GRCm38) |
Q832H |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,790,090 (GRCm38) |
S126G |
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,915,867 (GRCm38) |
C332S |
probably damaging |
Het |
| Raly |
C |
A |
2: 154,857,366 (GRCm38) |
T30K |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,490,647 (GRCm38) |
S13I |
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,867,224 (GRCm38) |
M159I |
possibly damaging |
Het |
| Rufy3 |
C |
T |
5: 88,584,309 (GRCm38) |
T57I |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,016,631 (GRCm38) |
D184G |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 126,321,094 (GRCm38) |
C58R |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,699,877 (GRCm38) |
I1467T |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,065,585 (GRCm38) |
I1371S |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 30,007,549 (GRCm38) |
L1228P |
possibly damaging |
Het |
| Stk31 |
C |
T |
6: 49,421,697 (GRCm38) |
A344V |
probably benign |
Het |
| Supt16 |
A |
G |
14: 52,170,834 (GRCm38) |
W885R |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,025,900 (GRCm38) |
|
probably null |
Het |
| Tmod1 |
A |
G |
4: 46,078,469 (GRCm38) |
|
probably null |
Het |
| Tnfsf13 |
A |
C |
11: 69,684,483 (GRCm38) |
|
probably null |
Het |
| Trim75 |
C |
A |
8: 64,983,442 (GRCm38) |
E119* |
probably null |
Het |
| Wdr6 |
T |
C |
9: 108,574,911 (GRCm38) |
Y591C |
probably damaging |
Het |
| Wdr86 |
C |
T |
5: 24,718,283 (GRCm38) |
R137H |
probably benign |
Het |
| Ythdf1 |
T |
A |
2: 180,911,150 (GRCm38) |
Y424F |
probably damaging |
Het |
| Zfp984 |
G |
T |
4: 147,756,186 (GRCm38) |
S69R |
possibly damaging |
Het |
| Zyg11a |
A |
G |
4: 108,181,794 (GRCm38) |
F743L |
probably damaging |
Het |
|
| Other mutations in Atad5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Atad5
|
APN |
11 |
80,132,858 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL00916:Atad5
|
APN |
11 |
80,119,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01348:Atad5
|
APN |
11 |
80,095,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01601:Atad5
|
APN |
11 |
80,095,517 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL01916:Atad5
|
APN |
11 |
80,112,839 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02028:Atad5
|
APN |
11 |
80,134,110 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02095:Atad5
|
APN |
11 |
80,094,707 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02142:Atad5
|
APN |
11 |
80,094,197 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02206:Atad5
|
APN |
11 |
80,094,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02385:Atad5
|
APN |
11 |
80,094,627 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02858:Atad5
|
APN |
11 |
80,089,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02962:Atad5
|
APN |
11 |
80,108,579 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
PIT4362001:Atad5
|
UTSW |
11 |
80,111,567 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0040:Atad5
|
UTSW |
11 |
80,098,014 (GRCm38) |
missense |
probably benign |
|
|
R0157:Atad5
|
UTSW |
11 |
80,089,817 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0211:Atad5
|
UTSW |
11 |
80,095,647 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0211:Atad5
|
UTSW |
11 |
80,095,647 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0319:Atad5
|
UTSW |
11 |
80,120,790 (GRCm38) |
splice site |
probably benign |
|
|
R0401:Atad5
|
UTSW |
11 |
80,120,699 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0426:Atad5
|
UTSW |
11 |
80,112,832 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0452:Atad5
|
UTSW |
11 |
80,106,421 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0496:Atad5
|
UTSW |
11 |
80,100,356 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1691:Atad5
|
UTSW |
11 |
80,095,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1812:Atad5
|
UTSW |
11 |
80,133,047 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2070:Atad5
|
UTSW |
11 |
80,098,052 (GRCm38) |
splice site |
probably null |
|
|
R2071:Atad5
|
UTSW |
11 |
80,098,052 (GRCm38) |
splice site |
probably null |
|
|
R2153:Atad5
|
UTSW |
11 |
80,106,377 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2415:Atad5
|
UTSW |
11 |
80,094,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Atad5
|
UTSW |
11 |
80,103,294 (GRCm38) |
missense |
probably null |
0.97 |
|
R4025:Atad5
|
UTSW |
11 |
80,120,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4464:Atad5
|
UTSW |
11 |
80,100,311 (GRCm38) |
splice site |
probably null |
|
|
R4561:Atad5
|
UTSW |
11 |
80,095,889 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4579:Atad5
|
UTSW |
11 |
80,095,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4844:Atad5
|
UTSW |
11 |
80,114,311 (GRCm38) |
splice site |
probably null |
|
|
R4853:Atad5
|
UTSW |
11 |
80,095,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4873:Atad5
|
UTSW |
11 |
80,120,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4875:Atad5
|
UTSW |
11 |
80,120,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5054:Atad5
|
UTSW |
11 |
80,094,676 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5226:Atad5
|
UTSW |
11 |
80,095,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5397:Atad5
|
UTSW |
11 |
80,111,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5449:Atad5
|
UTSW |
11 |
80,124,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5571:Atad5
|
UTSW |
11 |
80,111,556 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5575:Atad5
|
UTSW |
11 |
80,100,323 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5857:Atad5
|
UTSW |
11 |
80,131,329 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5927:Atad5
|
UTSW |
11 |
80,127,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5928:Atad5
|
UTSW |
11 |
80,094,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5949:Atad5
|
UTSW |
11 |
80,096,009 (GRCm38) |
nonsense |
probably null |
|
|
R6102:Atad5
|
UTSW |
11 |
80,111,572 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6562:Atad5
|
UTSW |
11 |
80,133,206 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6744:Atad5
|
UTSW |
11 |
80,134,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7092:Atad5
|
UTSW |
11 |
80,120,720 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7202:Atad5
|
UTSW |
11 |
80,089,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7345:Atad5
|
UTSW |
11 |
80,096,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7352:Atad5
|
UTSW |
11 |
80,103,343 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7358:Atad5
|
UTSW |
11 |
80,133,036 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7420:Atad5
|
UTSW |
11 |
80,095,862 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7453:Atad5
|
UTSW |
11 |
80,119,143 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7990:Atad5
|
UTSW |
11 |
80,133,253 (GRCm38) |
nonsense |
probably null |
|
|
R8012:Atad5
|
UTSW |
11 |
80,094,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8152:Atad5
|
UTSW |
11 |
80,095,170 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8421:Atad5
|
UTSW |
11 |
80,094,558 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8842:Atad5
|
UTSW |
11 |
80,110,084 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8918:Atad5
|
UTSW |
11 |
80,095,647 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8943:Atad5
|
UTSW |
11 |
80,095,698 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8944:Atad5
|
UTSW |
11 |
80,095,698 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9134:Atad5
|
UTSW |
11 |
80,133,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9137:Atad5
|
UTSW |
11 |
80,095,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9301:Atad5
|
UTSW |
11 |
80,096,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9372:Atad5
|
UTSW |
11 |
80,094,268 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9404:Atad5
|
UTSW |
11 |
80,114,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9443:Atad5
|
UTSW |
11 |
80,132,562 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9471:Atad5
|
UTSW |
11 |
80,132,698 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9577:Atad5
|
UTSW |
11 |
80,114,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9656:Atad5
|
UTSW |
11 |
80,089,716 (GRCm38) |
start gained |
probably benign |
|
|
R9659:Atad5
|
UTSW |
11 |
80,089,716 (GRCm38) |
start gained |
probably benign |
|
|
R9661:Atad5
|
UTSW |
11 |
80,089,716 (GRCm38) |
start gained |
probably benign |
|
|
RF003:Atad5
|
UTSW |
11 |
80,111,560 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0024:Atad5
|
UTSW |
11 |
80,132,783 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1176:Atad5
|
UTSW |
11 |
80,094,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCATGTGTTTCTCTCCCCTAA -3'
(R):5'- TGCAACACCATACTGGGAAAA -3'
Sequencing Primer
(F):5'- ATGTGTTTCTCTCCCCTAAATCTTG -3'
(R):5'- GGTGGTGCAAACCTTTAATCCCAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation