Incidental Mutation 'R7420:Atad5'
ID |
575618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
045498-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7420 (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 79986688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 592
(T592S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017694
AA Change: T592S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: T592S
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: T592S
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550 AA Change: T592S
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 |
|
Meta Mutation Damage Score |
0.0975 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
95% (54/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,141,303 (GRCm39) |
V6A |
probably benign |
Het |
Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
Ano1 |
G |
A |
7: 144,209,378 (GRCm39) |
T274I |
probably benign |
Het |
Bud13 |
C |
T |
9: 46,199,113 (GRCm39) |
P158L |
probably benign |
Het |
Card19 |
T |
C |
13: 49,361,613 (GRCm39) |
Y6C |
probably damaging |
Het |
Cd36 |
C |
G |
5: 17,993,272 (GRCm39) |
V393L |
probably benign |
Het |
Cd79a |
A |
T |
7: 24,596,971 (GRCm39) |
R9* |
probably null |
Het |
Cep164 |
T |
C |
9: 45,679,840 (GRCm39) |
H1131R |
probably benign |
Het |
Chia1 |
T |
A |
3: 106,037,980 (GRCm39) |
S321T |
probably benign |
Het |
Chrnd |
T |
A |
1: 87,122,543 (GRCm39) |
V217E |
possibly damaging |
Het |
Cmtm7 |
T |
C |
9: 114,592,462 (GRCm39) |
|
probably null |
Het |
Csn1s2a |
T |
C |
5: 87,927,865 (GRCm39) |
S60P |
possibly damaging |
Het |
Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,369,623 (GRCm39) |
A1618T |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 66,008,233 (GRCm39) |
|
probably null |
Het |
Epn1 |
A |
T |
7: 5,100,687 (GRCm39) |
T546S |
possibly damaging |
Het |
Fam135a |
A |
G |
1: 24,051,567 (GRCm39) |
S1443P |
possibly damaging |
Het |
Fam13b |
G |
T |
18: 34,627,664 (GRCm39) |
P179Q |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,868,431 (GRCm39) |
T647A |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,763,669 (GRCm39) |
N1494S |
probably benign |
Het |
Gm4952 |
G |
A |
19: 12,604,265 (GRCm39) |
G226R |
probably damaging |
Het |
Gm5460 |
T |
A |
14: 33,758,714 (GRCm39) |
F156I |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,115,909 (GRCm39) |
V849D |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,292,005 (GRCm39) |
D111G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,105,761 (GRCm39) |
D895G |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
Kdm5b |
T |
C |
1: 134,532,235 (GRCm39) |
V471A |
probably benign |
Het |
Klhdc8b |
A |
G |
9: 108,326,317 (GRCm39) |
Y239H |
possibly damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Krt82 |
T |
C |
15: 101,454,022 (GRCm39) |
T229A |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,504,451 (GRCm39) |
S2506T |
probably benign |
Het |
Lztr1 |
T |
C |
16: 17,341,993 (GRCm39) |
L656P |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,013,773 (GRCm39) |
|
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,739 (GRCm39) |
S497P |
probably benign |
Het |
Or2ag1b |
G |
A |
7: 106,288,227 (GRCm39) |
A237V |
possibly damaging |
Het |
Or8b44 |
G |
T |
9: 38,410,359 (GRCm39) |
L131F |
probably benign |
Het |
Otud4 |
C |
A |
8: 80,390,737 (GRCm39) |
T418K |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,648,256 (GRCm39) |
N462D |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,630,278 (GRCm39) |
S497P |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
Ppp2r5d |
A |
T |
17: 46,998,507 (GRCm39) |
F121L |
probably null |
Het |
Prxl2c |
C |
T |
13: 64,445,131 (GRCm39) |
G164D |
possibly damaging |
Het |
Sdad1 |
G |
A |
5: 92,453,596 (GRCm39) |
A64V |
possibly damaging |
Het |
Selenop |
G |
T |
15: 3,309,052 (GRCm39) |
A335S |
probably damaging |
Het |
Shc3 |
T |
C |
13: 51,585,271 (GRCm39) |
N448S |
probably benign |
Het |
Shcbp1 |
G |
A |
8: 4,798,737 (GRCm39) |
T394I |
probably benign |
Het |
Slc39a11 |
G |
T |
11: 113,138,648 (GRCm39) |
A276E |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Speg |
T |
A |
1: 75,407,549 (GRCm39) |
S3185R |
probably damaging |
Het |
Tmem100 |
A |
T |
11: 89,926,579 (GRCm39) |
*135Y |
probably null |
Het |
Ube2o |
A |
T |
11: 116,430,898 (GRCm39) |
F1001I |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,527,985 (GRCm39) |
D148G |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,511,736 (GRCm39) |
T648A |
probably damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,785,944 (GRCm39) |
L687P |
possibly damaging |
Het |
Zcchc14 |
ACCGCCGCCGCCGCCGCC |
ACCGCCGCCGCCGCC |
8: 122,378,530 (GRCm39) |
|
probably benign |
Het |
Zfp800 |
A |
G |
6: 28,243,718 (GRCm39) |
S416P |
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 |
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 |
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'- ATACGGCACATGACTCTGTAC -3'
(R):5'- CAATGCTTGAAGAATTTTCCTTCCC -3'
Sequencing Primer
(F):5'- GGCACATGACTCTGTACAAATGTCTC -3'
(R):5'- TAATGGGGCTCTCGGAAT -3'
|
Posted On |
2019-10-07 |