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 |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80018215 bp (GRCm39)
|
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: 113,453,190 (GRCm39) |
L2F |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,735,453 (GRCm39) |
|
probably benign |
Het |
Anpep |
T |
G |
7: 79,488,981 (GRCm39) |
D369A |
probably damaging |
Het |
App |
T |
C |
16: 84,775,065 (GRCm39) |
E599G |
probably damaging |
Het |
Asphd1 |
C |
T |
7: 126,548,040 (GRCm39) |
V88I |
probably benign |
Het |
Blm |
T |
C |
7: 80,130,090 (GRCm39) |
N950S |
probably benign |
Het |
Bsn |
A |
T |
9: 107,989,065 (GRCm39) |
M2229K |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,386,415 (GRCm39) |
M181V |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,329,162 (GRCm39) |
|
probably null |
Het |
Cdh1 |
T |
A |
8: 107,390,430 (GRCm39) |
V590D |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,282,269 (GRCm39) |
T160M |
probably damaging |
Het |
Cfap97d2 |
A |
G |
8: 13,756,043 (GRCm39) |
D26G |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,682,128 (GRCm39) |
I156T |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,740 (GRCm39) |
M325V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,507,895 (GRCm39) |
I116T |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,902 (GRCm39) |
K488R |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,467,848 (GRCm39) |
I451N |
probably damaging |
Het |
Exph5 |
T |
G |
9: 53,284,010 (GRCm39) |
S364A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,853,942 (GRCm39) |
S209P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,907,441 (GRCm39) |
L2854F |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,638,571 (GRCm39) |
|
probably null |
Het |
Fermt2 |
T |
C |
14: 45,713,516 (GRCm39) |
D205G |
probably damaging |
Het |
Fmnl1 |
G |
A |
11: 103,087,141 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
G |
11: 121,325,894 (GRCm39) |
E27G |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,815,098 (GRCm39) |
H378R |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,938,045 (GRCm39) |
K140E |
possibly damaging |
Het |
Gm7694 |
A |
T |
1: 170,130,103 (GRCm39) |
C98* |
probably null |
Het |
Golgb1 |
T |
C |
16: 36,734,340 (GRCm39) |
S1196P |
probably damaging |
Het |
Gpm6a |
G |
A |
8: 55,500,431 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
A |
3: 20,117,993 (GRCm39) |
N80K |
possibly damaging |
Het |
Il1rap |
G |
A |
16: 26,514,020 (GRCm39) |
R251H |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,648,267 (GRCm39) |
D688E |
probably benign |
Het |
Itgal |
T |
A |
7: 126,924,375 (GRCm39) |
N897K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,674,982 (GRCm39) |
|
probably null |
Het |
Kcnk13 |
A |
G |
12: 99,931,631 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,147,203 (GRCm39) |
L248P |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,554,872 (GRCm39) |
E1254G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,325,912 (GRCm39) |
|
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,527,371 (GRCm39) |
D406V |
possibly damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,650 (GRCm39) |
I32T |
probably damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,312 (GRCm39) |
V480E |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,665,129 (GRCm39) |
R1142H |
probably benign |
Het |
Mtmr3 |
G |
A |
11: 4,447,381 (GRCm39) |
Q360* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,237,380 (GRCm39) |
N252S |
probably benign |
Het |
Naa20 |
T |
C |
2: 145,745,240 (GRCm39) |
L4P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,112,973 (GRCm39) |
I4274L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,457,516 (GRCm39) |
F130I |
probably benign |
Het |
Nrg4 |
G |
T |
9: 55,143,796 (GRCm39) |
H87N |
possibly damaging |
Het |
Or51ai2 |
T |
A |
7: 103,586,741 (GRCm39) |
H51Q |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,849 (GRCm39) |
Y183F |
probably damaging |
Het |
P3h3 |
C |
T |
6: 124,822,564 (GRCm39) |
E536K |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,554,771 (GRCm39) |
S34P |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,825,914 (GRCm39) |
T71A |
possibly damaging |
Het |
Plaur |
T |
A |
7: 24,166,225 (GRCm39) |
C99S |
possibly damaging |
Het |
Plekha5 |
G |
A |
6: 140,532,162 (GRCm39) |
G501E |
probably damaging |
Het |
Plxnd1 |
C |
T |
6: 115,954,921 (GRCm39) |
V614M |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,025,786 (GRCm39) |
D307G |
possibly damaging |
Het |
Prl3d3 |
C |
T |
13: 27,341,453 (GRCm39) |
S28F |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,883,568 (GRCm39) |
Q832H |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,620,435 (GRCm39) |
S126G |
probably benign |
Het |
Rab3ip |
A |
T |
10: 116,751,772 (GRCm39) |
C332S |
probably damaging |
Het |
Raly |
C |
A |
2: 154,699,286 (GRCm39) |
T30K |
probably damaging |
Het |
Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,594,535 (GRCm39) |
M159I |
possibly damaging |
Het |
Rufy3 |
C |
T |
5: 88,732,168 (GRCm39) |
T57I |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,088 (GRCm39) |
D184G |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,047,833 (GRCm39) |
C58R |
possibly damaging |
Het |
Smarca4 |
T |
C |
9: 21,611,173 (GRCm39) |
I1467T |
probably damaging |
Het |
Spag17 |
T |
G |
3: 99,972,901 (GRCm39) |
I1371S |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,897,561 (GRCm39) |
L1228P |
possibly damaging |
Het |
Stk31 |
C |
T |
6: 49,398,631 (GRCm39) |
A344V |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,291 (GRCm39) |
W885R |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 111,992,334 (GRCm39) |
|
probably null |
Het |
Tmod1 |
A |
G |
4: 46,078,469 (GRCm39) |
|
probably null |
Het |
Tnfsf13 |
A |
C |
11: 69,575,309 (GRCm39) |
|
probably null |
Het |
Trim75 |
C |
A |
8: 65,436,094 (GRCm39) |
E119* |
probably null |
Het |
Wdr6 |
T |
C |
9: 108,452,110 (GRCm39) |
Y591C |
probably damaging |
Het |
Wdr86 |
C |
T |
5: 24,923,281 (GRCm39) |
R137H |
probably benign |
Het |
Ythdf1 |
T |
A |
2: 180,552,943 (GRCm39) |
Y424F |
probably damaging |
Het |
Zfp984 |
G |
T |
4: 147,840,643 (GRCm39) |
S69R |
possibly damaging |
Het |
Zyg11a |
A |
G |
4: 108,038,991 (GRCm39) |
F743L |
probably 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 |
|
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'- AACCATGTGTTTCTCTCCCCTAA -3'
(R):5'- TGCAACACCATACTGGGAAAA -3'
Sequencing Primer
(F):5'- ATGTGTTTCTCTCCCCTAAATCTTG -3'
(R):5'- GGTGGTGCAAACCTTTAATCCCAG -3'
|
Posted On |
2018-02-28 |