Incidental Mutation 'R0401:Atad5'
ID |
38238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
038606-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80011525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1297
(D1297E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017694
AA Change: D1300E
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: D1300E
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 benign
Transcript: ENSMUST00000108239
AA Change: D1297E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550 AA Change: D1297E
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 |
0.0693 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (90/92) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,776,067 (GRCm39) |
H1752L |
possibly damaging |
Het |
Abcc5 |
T |
C |
16: 20,195,308 (GRCm39) |
K730E |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,480 (GRCm39) |
D4588G |
probably benign |
Het |
AI467606 |
G |
A |
7: 126,691,608 (GRCm39) |
R61H |
probably damaging |
Het |
Apoa4 |
T |
A |
9: 46,154,356 (GRCm39) |
V319E |
probably damaging |
Het |
Ark2n |
C |
A |
18: 77,761,658 (GRCm39) |
S218I |
probably damaging |
Het |
BC005624 |
G |
A |
2: 30,870,021 (GRCm39) |
T62I |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,344 (GRCm39) |
K337E |
probably damaging |
Het |
Cad |
T |
A |
5: 31,231,330 (GRCm39) |
|
probably benign |
Het |
Ccdc73 |
T |
C |
2: 104,821,634 (GRCm39) |
S528P |
probably benign |
Het |
Ccng2 |
T |
G |
5: 93,421,272 (GRCm39) |
C261G |
possibly damaging |
Het |
Cdh11 |
A |
T |
8: 103,400,638 (GRCm39) |
I110N |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,612,521 (GRCm39) |
V767A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,123,538 (GRCm39) |
T1460A |
probably benign |
Het |
Clec4b2 |
C |
T |
6: 123,158,259 (GRCm39) |
Q42* |
probably null |
Het |
Clip1 |
A |
G |
5: 123,791,852 (GRCm39) |
V106A |
probably damaging |
Het |
Crb1 |
T |
C |
1: 139,126,529 (GRCm39) |
|
probably benign |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,852,630 (GRCm39) |
E244G |
probably damaging |
Het |
Dcaf8l |
C |
A |
X: 88,448,815 (GRCm39) |
R438L |
probably benign |
Het |
Ddx55 |
A |
T |
5: 124,706,014 (GRCm39) |
I480F |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,604,974 (GRCm39) |
S17P |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,926,117 (GRCm39) |
Y1235* |
probably null |
Het |
Dsg2 |
G |
T |
18: 20,725,565 (GRCm39) |
|
probably benign |
Het |
E2f5 |
T |
C |
3: 14,644,085 (GRCm39) |
|
probably null |
Het |
Epc2 |
A |
G |
2: 49,418,986 (GRCm39) |
T265A |
probably damaging |
Het |
Etaa1 |
T |
G |
11: 17,897,514 (GRCm39) |
D201A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,525,304 (GRCm39) |
I260T |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,351,931 (GRCm39) |
A1098V |
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,230,105 (GRCm39) |
V286I |
possibly damaging |
Het |
Gpr141b |
A |
T |
13: 19,913,664 (GRCm39) |
|
noncoding transcript |
Het |
H2-T9 |
C |
T |
17: 36,439,597 (GRCm39) |
V128M |
probably damaging |
Het |
Herc2 |
A |
C |
7: 55,807,480 (GRCm39) |
E2523A |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,476,104 (GRCm39) |
P757S |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,056,161 (GRCm39) |
R527H |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,087,762 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,309,492 (GRCm39) |
N2802K |
probably damaging |
Het |
Mab21l2 |
C |
G |
3: 86,454,296 (GRCm39) |
G235R |
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,165 (GRCm39) |
E417G |
probably benign |
Het |
Mapk8ip3 |
G |
A |
17: 25,128,145 (GRCm39) |
|
probably benign |
Het |
Mettl1 |
A |
G |
10: 126,880,946 (GRCm39) |
T203A |
probably benign |
Het |
Mettl9 |
T |
C |
7: 120,675,536 (GRCm39) |
V312A |
probably damaging |
Het |
Mex3d |
A |
G |
10: 80,222,728 (GRCm39) |
V176A |
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,449,790 (GRCm39) |
S225P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,078,689 (GRCm39) |
|
probably benign |
Het |
Ninj2 |
C |
T |
6: 120,175,012 (GRCm39) |
A51V |
possibly damaging |
Het |
Nle1 |
A |
G |
11: 82,796,205 (GRCm39) |
|
probably benign |
Het |
Nol9 |
T |
C |
4: 152,137,062 (GRCm39) |
Y532H |
probably benign |
Het |
Nr2c1 |
T |
A |
10: 94,007,020 (GRCm39) |
V286E |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
Or4c31 |
T |
G |
2: 88,292,269 (GRCm39) |
L195R |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,150 (GRCm39) |
H263L |
probably damaging |
Het |
Or5p4 |
T |
A |
7: 107,680,079 (GRCm39) |
I26N |
possibly damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,785 (GRCm39) |
Y121H |
probably benign |
Het |
Or6f1 |
T |
C |
7: 85,970,500 (GRCm39) |
Y220C |
probably benign |
Het |
Or9k7 |
A |
G |
10: 130,046,489 (GRCm39) |
L170P |
probably damaging |
Het |
Ovch2 |
A |
T |
7: 107,400,343 (GRCm39) |
V15D |
probably damaging |
Het |
Pate8 |
G |
T |
9: 36,493,924 (GRCm39) |
A3E |
unknown |
Het |
Pclo |
T |
G |
5: 14,731,748 (GRCm39) |
S3417A |
unknown |
Het |
Pex1 |
T |
A |
5: 3,683,759 (GRCm39) |
M1085K |
probably damaging |
Het |
Plscr2 |
T |
C |
9: 92,164,188 (GRCm39) |
S6P |
probably benign |
Het |
Pogz |
C |
T |
3: 94,784,336 (GRCm39) |
P722S |
possibly damaging |
Het |
Pom121l2 |
A |
T |
13: 22,166,395 (GRCm39) |
D222V |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,049,325 (GRCm39) |
Y179C |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,294,042 (GRCm39) |
I179V |
possibly damaging |
Het |
Ranbp9 |
A |
C |
13: 43,576,134 (GRCm39) |
V355G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,373,028 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,720,570 (GRCm39) |
S2693T |
probably benign |
Het |
Sbno1 |
G |
A |
5: 124,548,348 (GRCm39) |
T111I |
probably damaging |
Het |
Sdk1 |
A |
C |
5: 142,031,916 (GRCm39) |
N997T |
possibly damaging |
Het |
Setx |
G |
T |
2: 29,056,301 (GRCm39) |
E39* |
probably null |
Het |
Skint7 |
T |
A |
4: 111,837,559 (GRCm39) |
N112K |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
A |
T |
2: 62,021,192 (GRCm39) |
D80V |
probably benign |
Het |
Susd2 |
C |
A |
10: 75,474,437 (GRCm39) |
|
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcf3 |
G |
T |
10: 80,256,992 (GRCm39) |
S77R |
probably damaging |
Het |
Tdpoz3 |
T |
C |
3: 93,733,672 (GRCm39) |
Y116H |
probably benign |
Het |
Tex26 |
C |
A |
5: 149,384,323 (GRCm39) |
D164E |
probably benign |
Het |
Thoc5 |
G |
A |
11: 4,852,213 (GRCm39) |
|
probably benign |
Het |
Tiparp |
A |
G |
3: 65,438,857 (GRCm39) |
R58G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,074,471 (GRCm39) |
C597S |
probably damaging |
Het |
Ugt2a3 |
T |
A |
5: 87,484,349 (GRCm39) |
Q225L |
probably benign |
Het |
Vmn1r25 |
T |
A |
6: 57,955,696 (GRCm39) |
I198L |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,499,281 (GRCm39) |
V210D |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,284,407 (GRCm39) |
F483L |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,570,519 (GRCm39) |
K346E |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,466,221 (GRCm39) |
S2126R |
possibly damaging |
Het |
Zfp608 |
C |
T |
18: 55,032,066 (GRCm39) |
G625R |
probably benign |
Het |
Zkscan5 |
A |
G |
5: 145,149,385 (GRCm39) |
D234G |
probably damaging |
Het |
Zscan10 |
T |
A |
17: 23,824,889 (GRCm39) |
V115E |
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 |
|
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 |
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'- CCGGCTACTGTGTGCTTCTTAAAAGAAA -3'
(R):5'- CCGCCTCACTCACCTGATGTCTAA -3'
Sequencing Primer
(F):5'- ccaggcaatcaggaggtag -3'
(R):5'- CACCTGATGTCTAAAGTTAGTAGCTC -3'
|
Posted On |
2013-05-23 |