Incidental Mutation 'R7202:Atad5'
ID |
560393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atad5
|
Ensembl Gene |
ENSMUSG00000017550 |
Gene Name |
ATPase family, AAA domain containing 5 |
Synonyms |
LOC237877, C130052G03Rik |
MMRRC Submission |
045280-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7202 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79980601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 2
(V2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000108239]
|
AlphaFold |
Q4QY64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017694
AA Change: V2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017694 Gene: ENSMUSG00000017550 AA Change: V2A
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: V2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103874 Gene: ENSMUSG00000017550 AA Change: V2A
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 |
0.0776 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (74/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,917,236 (GRCm39) |
I1467T |
probably damaging |
Het |
Abtb3 |
A |
G |
10: 85,223,629 (GRCm39) |
E146G |
unknown |
Het |
Adgrf3 |
T |
A |
5: 30,409,378 (GRCm39) |
K38* |
probably null |
Het |
Ahdc1 |
T |
A |
4: 132,789,198 (GRCm39) |
C146* |
probably null |
Het |
Ahnak |
A |
T |
19: 8,995,163 (GRCm39) |
K5482N |
probably damaging |
Het |
Arhgap23 |
C |
T |
11: 97,342,819 (GRCm39) |
A367V |
possibly damaging |
Het |
Arvcf |
T |
C |
16: 18,223,948 (GRCm39) |
S960P |
probably damaging |
Het |
Asb14 |
C |
A |
14: 26,622,394 (GRCm39) |
P74Q |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,954,428 (GRCm39) |
I691M |
possibly damaging |
Het |
Brca2 |
A |
G |
5: 150,455,819 (GRCm39) |
T187A |
probably benign |
Het |
Calr4 |
T |
A |
4: 109,101,254 (GRCm39) |
N152K |
possibly damaging |
Het |
Ccnb2 |
C |
T |
9: 70,318,128 (GRCm39) |
A215T |
probably damaging |
Het |
Cdh16 |
C |
T |
8: 105,340,780 (GRCm39) |
D140N |
unknown |
Het |
Ces1g |
T |
C |
8: 94,029,595 (GRCm39) |
T546A |
probably benign |
Het |
Cfap74 |
G |
T |
4: 155,510,654 (GRCm39) |
|
probably null |
Het |
Cfap91 |
T |
C |
16: 38,155,959 (GRCm39) |
Y88C |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,842,390 (GRCm39) |
D422Y |
unknown |
Het |
Cyp2c66 |
A |
T |
19: 39,130,348 (GRCm39) |
Y61F |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
G |
6: 73,158,688 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
G |
9: 86,386,220 (GRCm39) |
|
probably null |
Het |
Fam163a |
A |
G |
1: 155,954,834 (GRCm39) |
F106L |
probably damaging |
Het |
Gfy |
T |
C |
7: 44,827,596 (GRCm39) |
T167A |
probably benign |
Het |
Gm6525 |
A |
T |
3: 84,082,341 (GRCm39) |
R87S |
probably benign |
Het |
Gramd1c |
C |
A |
16: 43,879,584 (GRCm39) |
A19S |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,781,034 (GRCm39) |
V1233A |
probably damaging |
Het |
Hibch |
G |
A |
1: 52,892,874 (GRCm39) |
|
probably null |
Het |
Ibsp |
A |
T |
5: 104,450,027 (GRCm39) |
S9C |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,452,572 (GRCm39) |
I252V |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,204,918 (GRCm39) |
M1536K |
probably benign |
Het |
Ipo11 |
A |
T |
13: 107,012,078 (GRCm39) |
L568Q |
probably damaging |
Het |
Kcnu1 |
T |
G |
8: 26,409,609 (GRCm39) |
|
probably null |
Het |
Kdm5b |
T |
G |
1: 134,552,497 (GRCm39) |
S1158A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,759,012 (GRCm39) |
T946A |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,697,292 (GRCm39) |
|
probably benign |
Het |
Krba1 |
G |
A |
6: 48,389,261 (GRCm39) |
V594M |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
Lig1 |
C |
T |
7: 13,025,175 (GRCm39) |
P227S |
probably benign |
Het |
Lims2 |
T |
A |
18: 32,090,017 (GRCm39) |
D255E |
probably benign |
Het |
Marchf3 |
C |
T |
18: 56,909,161 (GRCm39) |
C208Y |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,976,843 (GRCm39) |
E142G |
|
Het |
Melk |
G |
T |
4: 44,351,106 (GRCm39) |
R549L |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Myorg |
T |
C |
4: 41,498,268 (GRCm39) |
Y454C |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,250,215 (GRCm39) |
Y226C |
possibly damaging |
Het |
Nap1l1 |
T |
C |
10: 111,326,964 (GRCm39) |
F175S |
probably damaging |
Het |
Ndn |
T |
C |
7: 61,998,709 (GRCm39) |
L185P |
probably damaging |
Het |
Ndst3 |
T |
A |
3: 123,465,388 (GRCm39) |
I195F |
possibly damaging |
Het |
Ndufaf1 |
A |
T |
2: 119,488,907 (GRCm39) |
S206T |
probably benign |
Het |
Nek10 |
C |
A |
14: 14,836,171 (GRCm38) |
H131N |
probably benign |
Het |
Obsl1 |
T |
A |
1: 75,466,360 (GRCm39) |
D1456V |
possibly damaging |
Het |
Or10a2 |
A |
G |
7: 106,673,448 (GRCm39) |
N138D |
probably benign |
Het |
Or10ak7 |
C |
T |
4: 118,791,215 (GRCm39) |
V277I |
probably benign |
Het |
Or52s6 |
T |
A |
7: 103,092,292 (GRCm39) |
T13S |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,474 (GRCm39) |
L1728F |
probably damaging |
Het |
Pcx |
A |
T |
19: 4,652,361 (GRCm39) |
M150L |
possibly damaging |
Het |
Pole |
A |
G |
5: 110,444,973 (GRCm39) |
D443G |
possibly damaging |
Het |
Prr14 |
G |
T |
7: 127,075,648 (GRCm39) |
R552L |
probably damaging |
Het |
Rasgrf1 |
T |
G |
9: 89,899,125 (GRCm39) |
S1156A |
possibly damaging |
Het |
Rfc4 |
T |
A |
16: 22,946,359 (GRCm39) |
|
probably benign |
Het |
Rfx5 |
G |
T |
3: 94,866,272 (GRCm39) |
A524S |
unknown |
Het |
Ryr3 |
G |
A |
2: 112,596,664 (GRCm39) |
P2497S |
probably damaging |
Het |
Scg3 |
T |
C |
9: 75,590,992 (GRCm39) |
T6A |
probably benign |
Het |
Slc26a9 |
A |
T |
1: 131,690,526 (GRCm39) |
D510V |
possibly damaging |
Het |
Stpg3 |
A |
G |
2: 25,104,586 (GRCm39) |
F10L |
probably damaging |
Het |
Tmc5 |
T |
A |
7: 118,239,179 (GRCm39) |
H357Q |
possibly damaging |
Het |
Tmem40 |
A |
T |
6: 115,707,420 (GRCm39) |
L253H |
probably damaging |
Het |
Tmie |
A |
G |
9: 110,696,632 (GRCm39) |
V83A |
probably damaging |
Het |
Uck2 |
A |
T |
1: 167,054,084 (GRCm39) |
I218N |
probably damaging |
Het |
Vtn |
A |
G |
11: 78,391,626 (GRCm39) |
D310G |
possibly damaging |
Het |
Wdr49 |
A |
T |
3: 75,240,580 (GRCm39) |
S430T |
probably benign |
Het |
Wtip |
A |
G |
7: 33,832,087 (GRCm39) |
V133A |
probably benign |
Het |
Zbtb9 |
T |
A |
17: 27,193,666 (GRCm39) |
V357E |
probably damaging |
Het |
Zfp953 |
G |
A |
13: 67,491,706 (GRCm39) |
T82M |
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 |
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'- GTACATCTCTGTCTGAGTCTGAC -3'
(R):5'- AGCTTTACACGGCACACTGAG -3'
Sequencing Primer
(F):5'- GAGTCTGACTCGGCGGC -3'
(R):5'- CCACACAAAATTATGACTGTGGGTC -3'
|
Posted On |
2019-06-26 |