Incidental Mutation 'R7092:Atad5'
ID |
550306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
045186-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7092 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80011546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1307
(N1307K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017694
AA Change: N1307K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: N1307K
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 |
possibly damaging
Transcript: ENSMUST00000108239
AA Change: N1304K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550 AA Change: N1304K
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (88/89) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
C |
T |
3: 137,889,506 (GRCm39) |
C37Y |
probably benign |
Het |
A430005L14Rik |
T |
A |
4: 154,045,451 (GRCm39) |
|
probably null |
Het |
Aadacl2fm3 |
T |
C |
3: 59,768,500 (GRCm39) |
F10S |
probably benign |
Het |
Abca4 |
C |
G |
3: 121,932,218 (GRCm39) |
P1499A |
probably damaging |
Het |
Adcy8 |
T |
C |
15: 64,743,619 (GRCm39) |
N330D |
possibly damaging |
Het |
Arfgef1 |
A |
G |
1: 10,223,901 (GRCm39) |
Y1466H |
probably damaging |
Het |
Asz1 |
A |
C |
6: 18,071,818 (GRCm39) |
|
probably null |
Het |
B4galnt4 |
C |
A |
7: 140,648,549 (GRCm39) |
F688L |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,953,740 (GRCm39) |
T3349I |
probably damaging |
Het |
Ccp110 |
C |
A |
7: 118,334,494 (GRCm39) |
A989E |
probably benign |
Het |
Ccser2 |
A |
G |
14: 36,662,612 (GRCm39) |
S191P |
probably benign |
Het |
Cdca2 |
A |
G |
14: 67,944,800 (GRCm39) |
|
probably null |
Het |
Cdcp1 |
T |
A |
9: 123,012,678 (GRCm39) |
T290S |
probably benign |
Het |
Cep43 |
C |
T |
17: 8,391,802 (GRCm39) |
P161S |
probably benign |
Het |
Clec2m |
T |
A |
6: 129,299,963 (GRCm39) |
T172S |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,430,387 (GRCm39) |
Y502H |
probably damaging |
Het |
Cyba |
T |
G |
8: 123,154,437 (GRCm39) |
T29P |
probably damaging |
Het |
Dcaf12 |
A |
T |
4: 41,301,366 (GRCm39) |
I190N |
probably damaging |
Het |
Depp1 |
C |
A |
6: 116,628,749 (GRCm39) |
P31T |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,341,179 (GRCm39) |
T512A |
probably benign |
Het |
Fancg |
G |
A |
4: 43,004,831 (GRCm39) |
P454L |
probably benign |
Het |
Fasn |
A |
C |
11: 120,710,946 (GRCm39) |
V268G |
possibly damaging |
Het |
Fip1l1 |
T |
A |
5: 74,697,504 (GRCm39) |
L42Q |
probably damaging |
Het |
Fjx1 |
A |
G |
2: 102,281,101 (GRCm39) |
L278P |
possibly damaging |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Fundc2b |
T |
A |
3: 40,856,809 (GRCm39) |
D22V |
possibly damaging |
Het |
Gm1527 |
T |
A |
3: 28,968,696 (GRCm39) |
|
probably null |
Het |
Gng3 |
T |
A |
19: 8,815,611 (GRCm39) |
M42L |
probably benign |
Het |
Gsdmc2 |
T |
A |
15: 63,696,947 (GRCm39) |
Q408L |
probably damaging |
Het |
Gtpbp3 |
T |
A |
8: 71,944,909 (GRCm39) |
I388K |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,479,997 (GRCm39) |
W4534R |
probably damaging |
Het |
Inhca |
G |
A |
9: 103,158,242 (GRCm39) |
S106L |
possibly damaging |
Het |
Ist1 |
A |
T |
8: 110,409,228 (GRCm39) |
|
probably null |
Het |
Kifbp |
C |
A |
10: 62,414,079 (GRCm39) |
K26N |
probably damaging |
Het |
Kyat3 |
T |
C |
3: 142,435,556 (GRCm39) |
I276T |
probably damaging |
Het |
Lipm |
C |
T |
19: 34,098,758 (GRCm39) |
P411S |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,591,092 (GRCm39) |
|
probably null |
Het |
Lrrc9 |
C |
A |
12: 72,510,238 (GRCm39) |
Q446K |
possibly damaging |
Het |
Mfsd4a |
G |
T |
1: 131,995,401 (GRCm39) |
T77N |
probably benign |
Het |
Mmp1b |
T |
A |
9: 7,386,981 (GRCm39) |
D77V |
probably damaging |
Het |
Mrgprb4 |
A |
G |
7: 47,847,984 (GRCm39) |
S315P |
probably benign |
Het |
Mroh2b |
C |
A |
15: 4,964,160 (GRCm39) |
N887K |
possibly damaging |
Het |
Mto1 |
A |
G |
9: 78,377,955 (GRCm39) |
K599R |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,363,385 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,757,110 (GRCm39) |
N295S |
probably benign |
Het |
Nr1i3 |
G |
A |
1: 171,041,747 (GRCm39) |
|
probably null |
Het |
Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
Odc1 |
G |
A |
12: 17,598,314 (GRCm39) |
V152I |
possibly damaging |
Het |
Or13a20 |
G |
A |
7: 140,232,150 (GRCm39) |
G86D |
probably benign |
Het |
Or1l4b |
T |
A |
2: 37,036,623 (GRCm39) |
M133K |
probably damaging |
Het |
Or5m10b |
A |
T |
2: 85,698,951 (GRCm39) |
N5I |
probably damaging |
Het |
Or7g16 |
G |
A |
9: 18,727,353 (GRCm39) |
P79L |
probably damaging |
Het |
Pde1b |
G |
T |
15: 103,435,458 (GRCm39) |
V438L |
probably benign |
Het |
Pde4b |
G |
A |
4: 102,459,048 (GRCm39) |
V523M |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,111,659 (GRCm39) |
P205S |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,349,153 (GRCm39) |
S1073P |
probably damaging |
Het |
Plekhg5 |
C |
T |
4: 152,198,965 (GRCm39) |
T1051I |
probably damaging |
Het |
Ppme1 |
A |
T |
7: 100,021,029 (GRCm39) |
M1K |
probably null |
Het |
Prokr2 |
A |
T |
2: 132,223,236 (GRCm39) |
V102D |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptprh |
C |
A |
7: 4,583,860 (GRCm39) |
|
probably null |
Het |
Rbsn |
T |
C |
6: 92,166,607 (GRCm39) |
N679S |
probably damaging |
Het |
Rce1 |
T |
C |
19: 4,673,118 (GRCm39) |
T303A |
probably damaging |
Het |
Rnf123 |
C |
A |
9: 107,945,799 (GRCm39) |
R329L |
probably benign |
Het |
Robo2 |
T |
A |
16: 73,753,531 (GRCm39) |
N782I |
probably damaging |
Het |
Ror2 |
A |
C |
13: 53,264,272 (GRCm39) |
V940G |
probably benign |
Het |
Rpe65 |
C |
T |
3: 159,321,228 (GRCm39) |
R347C |
probably damaging |
Het |
Rrp8 |
A |
T |
7: 105,383,316 (GRCm39) |
F317I |
probably damaging |
Het |
Sidt1 |
A |
G |
16: 44,120,192 (GRCm39) |
V163A |
possibly damaging |
Het |
Sin3b |
T |
C |
8: 73,474,498 (GRCm39) |
|
probably null |
Het |
Slamf1 |
A |
G |
1: 171,604,757 (GRCm39) |
T176A |
probably benign |
Het |
Slc12a4 |
G |
T |
8: 106,671,855 (GRCm39) |
A922D |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,194,401 (GRCm39) |
Q414L |
probably benign |
Het |
Snx11 |
C |
A |
11: 96,663,665 (GRCm39) |
R58L |
probably damaging |
Het |
Sp9 |
A |
G |
2: 73,104,115 (GRCm39) |
D223G |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,119 (GRCm39) |
I1107V |
possibly damaging |
Het |
Stap2 |
T |
C |
17: 56,309,954 (GRCm39) |
R66G |
probably benign |
Het |
Synrg |
T |
G |
11: 83,899,683 (GRCm39) |
F552V |
possibly damaging |
Het |
Trim60 |
C |
T |
8: 65,453,700 (GRCm39) |
R183H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,733,760 (GRCm39) |
D4505G |
unknown |
Het |
Ubxn4 |
A |
G |
1: 128,179,959 (GRCm39) |
I34M |
probably benign |
Het |
Vac14 |
T |
A |
8: 111,442,128 (GRCm39) |
M702K |
probably damaging |
Het |
Vmn1r43 |
T |
C |
6: 89,846,885 (GRCm39) |
I200M |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,701,338 (GRCm39) |
Y54F |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,640,780 (GRCm39) |
Y1382H |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,117,754 (GRCm39) |
I834T |
probably damaging |
Het |
Zfp970 |
T |
A |
2: 177,167,085 (GRCm39) |
C220S |
probably damaging |
Het |
Zkscan5 |
T |
G |
5: 145,156,899 (GRCm39) |
I467S |
probably benign |
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 |
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'- CAACTACCCAGTGATTAGTTAGCG -3'
(R):5'- TATCTGCTGAGCTCTCTCCAGG -3'
Sequencing Primer
(F):5'- CTCTGAGTTCAAGGCCAGTTTACAG -3'
(R):5'- GAGCTCTCTCCAGGCCATAC -3'
|
Posted On |
2019-05-15 |