Incidental Mutation 'R6102:Atad5'
ID |
485327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
044252-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6102 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 80002398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably null
Transcript: ENSMUST00000017694
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550
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 null
Transcript: ENSMUST00000108239
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550
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 |
probably null
Transcript: ENSMUST00000108239
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154168
|
Meta Mutation Damage Score |
0.9500 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (65/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
A |
G |
11: 70,210,849 (GRCm39) |
I290T |
possibly damaging |
Het |
Apeh |
T |
A |
9: 107,963,638 (GRCm39) |
D559V |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,405,197 (GRCm39) |
Y1361* |
probably null |
Het |
Ccr4 |
C |
T |
9: 114,325,561 (GRCm39) |
|
probably null |
Het |
Clasrp |
G |
A |
7: 19,320,393 (GRCm39) |
|
probably benign |
Het |
Cldn23 |
A |
G |
8: 36,292,705 (GRCm39) |
M261T |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,739 (GRCm39) |
M1450V |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,773,197 (GRCm39) |
E202V |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,598,299 (GRCm39) |
V1412E |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,881,342 (GRCm39) |
S2578P |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,180,165 (GRCm39) |
Y196F |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,685,626 (GRCm39) |
S113P |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Frs3 |
C |
T |
17: 48,013,596 (GRCm39) |
H173Y |
probably damaging |
Het |
Ginm1 |
G |
T |
10: 7,644,260 (GRCm39) |
T323K |
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,733,227 (GRCm39) |
S825P |
probably damaging |
Het |
Hs3st3b1 |
A |
T |
11: 63,812,681 (GRCm39) |
C11* |
probably null |
Het |
Ighv3-3 |
G |
C |
12: 114,160,080 (GRCm39) |
A110G |
possibly damaging |
Het |
Igkv6-20 |
G |
A |
6: 70,312,853 (GRCm39) |
H107Y |
probably benign |
Het |
Kcnj16 |
A |
G |
11: 110,916,403 (GRCm39) |
E355G |
probably benign |
Het |
Lig4 |
C |
T |
8: 10,022,872 (GRCm39) |
G303S |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,562,381 (GRCm39) |
V2443G |
unknown |
Het |
Map3k6 |
T |
C |
4: 132,974,442 (GRCm39) |
|
probably null |
Het |
Mmp13 |
A |
G |
9: 7,276,688 (GRCm39) |
Q261R |
probably benign |
Het |
Mphosph9 |
T |
A |
5: 124,435,772 (GRCm39) |
I554F |
possibly damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,239,897 (GRCm39) |
F10I |
possibly damaging |
Het |
Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,437,673 (GRCm39) |
N927S |
probably damaging |
Het |
Necab1 |
T |
A |
4: 14,989,211 (GRCm39) |
Q188L |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,361,427 (GRCm39) |
|
probably benign |
Het |
Or5i1 |
T |
C |
2: 87,613,192 (GRCm39) |
F103L |
probably damaging |
Het |
Or5p70 |
T |
C |
7: 107,994,491 (GRCm39) |
S55P |
probably damaging |
Het |
Or7g34 |
T |
C |
9: 19,478,318 (GRCm39) |
M121V |
possibly damaging |
Het |
Paip2b |
A |
C |
6: 83,785,828 (GRCm39) |
V134G |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,108,984 (GRCm39) |
T225A |
probably damaging |
Het |
Pbx1 |
C |
A |
1: 168,011,134 (GRCm39) |
A298S |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,279,335 (GRCm39) |
K772* |
probably null |
Het |
Pcsk4 |
A |
T |
10: 80,161,651 (GRCm39) |
Y163* |
probably null |
Het |
Plcd3 |
A |
G |
11: 102,971,470 (GRCm39) |
V58A |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,946,867 (GRCm39) |
T57S |
possibly damaging |
Het |
Plscr2 |
C |
T |
9: 92,169,721 (GRCm39) |
T57I |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,284,768 (GRCm39) |
S32P |
probably benign |
Het |
Ppp3r2 |
C |
T |
4: 49,682,022 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
A |
11: 30,815,567 (GRCm39) |
L1693H |
probably damaging |
Het |
Rrbp1 |
T |
A |
2: 143,830,313 (GRCm39) |
Q618L |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Serpina3b |
A |
T |
12: 104,100,428 (GRCm39) |
T337S |
probably benign |
Het |
Slc18a2 |
T |
C |
19: 59,282,310 (GRCm39) |
Y506H |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,818,482 (GRCm39) |
Y292C |
probably benign |
Het |
Spta1 |
T |
C |
1: 174,052,086 (GRCm39) |
V1840A |
probably benign |
Het |
Ssb |
T |
C |
2: 69,701,552 (GRCm39) |
*416Q |
probably null |
Het |
Strada |
A |
G |
11: 106,059,262 (GRCm39) |
V209A |
probably benign |
Het |
Tbc1d31 |
A |
T |
15: 57,799,489 (GRCm39) |
D225V |
probably damaging |
Het |
Tgm4 |
T |
C |
9: 122,885,600 (GRCm39) |
F381L |
probably benign |
Het |
Tmem120b |
T |
A |
5: 123,253,207 (GRCm39) |
Y203N |
probably damaging |
Het |
Tmem176b |
A |
G |
6: 48,812,868 (GRCm39) |
V109A |
probably benign |
Het |
Tnfrsf11a |
C |
A |
1: 105,747,671 (GRCm39) |
L201M |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,804,694 (GRCm39) |
|
probably null |
Het |
Tubb2a |
T |
C |
13: 34,259,326 (GRCm39) |
I155V |
probably benign |
Het |
Vmn1r5 |
A |
G |
6: 56,963,099 (GRCm39) |
D258G |
probably damaging |
Het |
Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
Vmn2r19 |
A |
T |
6: 123,306,907 (GRCm39) |
I472F |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,375,361 (GRCm39) |
|
probably null |
Het |
Zfp273 |
A |
G |
13: 67,970,466 (GRCm39) |
Y5C |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp825 |
A |
G |
13: 74,628,772 (GRCm39) |
L248P |
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 |
|
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'- TGCTGAGATTAAAGCTGTGTGATTG -3'
(R):5'- ACAGTGAAACCCAGTCTTGAA -3'
|
Posted On |
2017-08-16 |