Incidental Mutation 'R4875:Atad5'
| ID |
376737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad5
|
| Ensembl Gene |
ENSMUSG00000017550 |
| Gene Name |
ATPase family, AAA domain containing 5 |
| Synonyms |
LOC237877, C130052G03Rik |
| MMRRC Submission |
044392-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4875 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80011515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1294
(V1294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
| AlphaFold |
Q4QY64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017694
AA Change: V1297A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: V1297A
| 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: V1294A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: V1294A
| 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 |
0.2687 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (57/60) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,521,189 (GRCm39) |
E119D |
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,390,811 (GRCm39) |
|
probably null |
Het |
| BB019430 |
A |
G |
10: 58,539,865 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,554,244 (GRCm39) |
N646I |
possibly damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,429,356 (GRCm39) |
I114T |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,727,877 (GRCm39) |
L340P |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,653,817 (GRCm39) |
V85E |
probably damaging |
Het |
| Cnpy2 |
C |
A |
10: 128,161,964 (GRCm39) |
T79K |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,414,874 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Ctso |
C |
T |
3: 81,849,688 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,389,659 (GRCm39) |
M235I |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,995,860 (GRCm39) |
C314R |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,728,085 (GRCm39) |
N2928D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
C |
A |
6: 83,037,993 (GRCm39) |
D460E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,051,164 (GRCm39) |
C438R |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,112,299 (GRCm39) |
V21G |
probably damaging |
Het |
| Ero1b |
G |
A |
13: 12,619,325 (GRCm39) |
V440I |
probably damaging |
Het |
| Fpgt |
G |
A |
3: 154,793,550 (GRCm39) |
A159V |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,714,229 (GRCm39) |
L123P |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,226 (GRCm39) |
R439W |
probably damaging |
Het |
| Gm4353 |
G |
C |
7: 115,683,648 (GRCm39) |
P49R |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,700,101 (GRCm39) |
A224T |
probably benign |
Het |
| Helz |
T |
A |
11: 107,528,560 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,010,021 (GRCm39) |
Y246C |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,892 (GRCm39) |
E549G |
probably benign |
Het |
| Krt9 |
T |
C |
11: 100,080,863 (GRCm39) |
I330V |
probably benign |
Het |
| Lair1 |
A |
T |
7: 4,032,033 (GRCm39) |
S25T |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,996 (GRCm39) |
I149V |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,422 (GRCm39) |
S143T |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,675,574 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,396,986 (GRCm39) |
V578M |
probably damaging |
Het |
| Mis18bp1 |
G |
A |
12: 65,208,209 (GRCm39) |
T168M |
probably benign |
Het |
| Mospd4 |
G |
T |
18: 46,598,804 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,379,114 (GRCm39) |
V626A |
probably damaging |
Het |
| Naa80 |
C |
T |
9: 107,460,818 (GRCm39) |
R238C |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,418,921 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
T |
C |
19: 4,062,653 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,301,858 (GRCm39) |
F211L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,467,993 (GRCm39) |
F123I |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,126 (GRCm39) |
M140K |
probably damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,326,450 (GRCm39) |
Y259F |
probably damaging |
Het |
| Osbpl11 |
G |
A |
16: 33,054,863 (GRCm39) |
V649I |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,331,652 (GRCm39) |
M144L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,205,688 (GRCm39) |
T2555A |
probably benign |
Het |
| Plat |
T |
A |
8: 23,258,466 (GRCm39) |
I23K |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,763 (GRCm39) |
T51M |
probably damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,957,742 (GRCm39) |
M233V |
probably benign |
Het |
| Prox1 |
A |
C |
1: 189,894,319 (GRCm39) |
F42C |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,835,978 (GRCm39) |
Q473L |
possibly damaging |
Het |
| Rims4 |
A |
T |
2: 163,707,443 (GRCm39) |
N127K |
probably null |
Het |
| Scn1a |
T |
C |
2: 66,158,820 (GRCm39) |
T367A |
possibly damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,898,800 (GRCm39) |
I579T |
possibly damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,962 (GRCm39) |
V172A |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,003,396 (GRCm39) |
L109Q |
probably damaging |
Het |
| Strap |
ACCTGCCCTCCT |
ACCT |
6: 137,726,316 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,038,343 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,206 (GRCm39) |
V15A |
probably damaging |
Het |
| Tgif2-ps2 |
A |
G |
17: 40,426,274 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc18 |
A |
T |
5: 142,750,932 (GRCm39) |
M1216K |
unknown |
Het |
| Tpst2 |
T |
A |
5: 112,457,687 (GRCm39) |
Y69* |
probably null |
Het |
| Tpx2 |
C |
A |
2: 152,735,535 (GRCm39) |
A721E |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,330,755 (GRCm39) |
T591A |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,203,042 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,556 (GRCm39) |
T118A |
possibly damaging |
Het |
| Unc13c |
T |
C |
9: 73,424,566 (GRCm39) |
T2017A |
probably damaging |
Het |
| Vmn1r59 |
G |
T |
7: 5,457,108 (GRCm39) |
N217K |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,367 (GRCm39) |
I624V |
probably damaging |
Het |
| Wdr4 |
A |
G |
17: 31,718,129 (GRCm39) |
V315A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,914,256 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
A |
8: 79,787,403 (GRCm39) |
W190R |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,674,940 (GRCm39) |
T180A |
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 |
|
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'- ACTACCCAGTGATTAGTTAGCG -3'
(R):5'- GCCTCACTCACCTGATGTCTAAAG -3'
Sequencing Primer
(F):5'- CTCTGAGTTCAAGGCCAGTTTACAG -3'
(R):5'- CTCACCTGATGTCTAAAGTTAGTAGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation