Incidental Mutation 'R5054:Atad5'
ID |
390722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
042644-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5054 (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 79985502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 196
(S196R)
|
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: S196R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: S196R
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: S196R
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550 AA Change: S196R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
94% (67/71) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
G |
13: 59,837,315 (GRCm39) |
Y257H |
probably damaging |
Het |
Adam28 |
C |
T |
14: 68,855,164 (GRCm39) |
C659Y |
probably damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,991,732 (GRCm39) |
E627K |
probably damaging |
Het |
Bcam |
T |
A |
7: 19,490,785 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,962,320 (GRCm39) |
H3978R |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,804,471 (GRCm39) |
I190V |
probably benign |
Het |
Ccdc8 |
T |
C |
7: 16,728,970 (GRCm39) |
V153A |
probably damaging |
Het |
Cyp2a5 |
C |
G |
7: 26,540,529 (GRCm39) |
R68G |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,815,105 (GRCm39) |
Y1254C |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,085,007 (GRCm39) |
E2794G |
possibly damaging |
Het |
Dytn |
C |
A |
1: 63,700,318 (GRCm39) |
V271L |
possibly damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,071 (GRCm39) |
I61V |
probably benign |
Het |
Eif2s2 |
A |
C |
2: 154,734,590 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,788,663 (GRCm39) |
S193P |
probably damaging |
Het |
Fzr1 |
G |
A |
10: 81,207,253 (GRCm39) |
|
probably benign |
Het |
Gm17472 |
T |
C |
6: 42,957,938 (GRCm39) |
I69T |
probably damaging |
Het |
Gmppa |
C |
A |
1: 75,416,015 (GRCm39) |
Y137* |
probably null |
Het |
Gpr45 |
A |
G |
1: 43,071,809 (GRCm39) |
I151V |
probably benign |
Het |
H1f0 |
G |
A |
15: 78,912,973 (GRCm39) |
A18T |
probably damaging |
Het |
Hbb-bh1 |
C |
T |
7: 103,491,063 (GRCm39) |
V114I |
probably benign |
Het |
Impa2 |
C |
A |
18: 67,439,797 (GRCm39) |
P98Q |
probably damaging |
Het |
Kazn |
T |
C |
4: 141,835,957 (GRCm39) |
N573D |
unknown |
Het |
Kcna2 |
A |
T |
3: 107,011,656 (GRCm39) |
D79V |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,956,122 (GRCm39) |
Y561H |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klra1 |
T |
A |
6: 130,352,247 (GRCm39) |
Q165L |
probably damaging |
Het |
Mat2b |
T |
A |
11: 40,570,869 (GRCm39) |
R318S |
probably damaging |
Het |
Mgat4d |
G |
A |
8: 84,094,837 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
A |
4: 148,641,312 (GRCm39) |
|
probably null |
Het |
Nostrin |
A |
T |
2: 69,006,057 (GRCm39) |
Q247L |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,964,443 (GRCm39) |
E3033G |
probably damaging |
Het |
Pam |
C |
A |
1: 97,749,642 (GRCm39) |
D839Y |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,795,157 (GRCm39) |
V693A |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,021,337 (GRCm39) |
L535Q |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Ptar1 |
G |
T |
19: 23,671,729 (GRCm39) |
R44L |
probably damaging |
Het |
Rad51c |
T |
C |
11: 87,288,580 (GRCm39) |
H201R |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,381,265 (GRCm39) |
|
probably null |
Het |
Rpl22l1 |
T |
G |
3: 28,860,985 (GRCm39) |
S67A |
possibly damaging |
Het |
Rps10 |
A |
G |
17: 27,849,454 (GRCm39) |
S143P |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,315,967 (GRCm39) |
V13A |
probably benign |
Het |
Sephs2 |
C |
A |
7: 126,872,564 (GRCm39) |
M176I |
probably benign |
Het |
Serpina16 |
C |
T |
12: 103,641,189 (GRCm39) |
V179I |
probably benign |
Het |
Serpini2 |
T |
A |
3: 75,166,784 (GRCm39) |
T158S |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,072,979 (GRCm39) |
R701G |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,650,436 (GRCm39) |
E558G |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,136,672 (GRCm39) |
|
probably benign |
Het |
Tbr1 |
A |
T |
2: 61,636,346 (GRCm39) |
I241F |
possibly damaging |
Het |
Tgfa |
G |
C |
6: 86,247,064 (GRCm39) |
|
probably null |
Het |
Tlr12 |
T |
A |
4: 128,511,063 (GRCm39) |
K396* |
probably null |
Het |
Tmppe |
A |
G |
9: 114,235,026 (GRCm39) |
I442V |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,147,607 (GRCm39) |
V180A |
probably damaging |
Het |
Vmn1r222 |
A |
G |
13: 23,416,901 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,671,708 (GRCm39) |
V482L |
possibly damaging |
Het |
Zfp184 |
G |
T |
13: 22,143,452 (GRCm39) |
R386L |
possibly damaging |
Het |
Zfp444 |
T |
A |
7: 6,192,792 (GRCm39) |
V270E |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,438 (GRCm39) |
Y102F |
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 |
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'- ATTCAGGATGAGTGTCCAGTTG -3'
(R):5'- CACTTTAGCTGCCTTGTGAC -3'
Sequencing Primer
(F):5'- CAGGATGAGTGTCCAGTTGAAATTAG -3'
(R):5'- CCTCATAGGAGACAGTAATTGTACTC -3'
|
Posted On |
2016-06-06 |