Incidental Mutation 'R2070:Atad5'
| ID |
227069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad5
|
| Ensembl Gene |
ENSMUSG00000017550 |
| Gene Name |
ATPase family, AAA domain containing 5 |
| Synonyms |
LOC237877, C130052G03Rik |
| MMRRC Submission |
040075-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2070 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79980226-80026620 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 79988878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[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 |
noncoding transcript
Transcript: ENSMUST00000151815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154168
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Ablim2 |
G |
A |
5: 35,955,857 (GRCm39) |
C24Y |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,861,988 (GRCm39) |
F497S |
probably damaging |
Het |
| Armh3 |
G |
T |
19: 45,879,724 (GRCm39) |
P543Q |
probably damaging |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,688,851 (GRCm39) |
I207V |
probably benign |
Het |
| Bnip3l |
A |
G |
14: 67,226,671 (GRCm39) |
M174T |
probably damaging |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,644,727 (GRCm39) |
V160A |
possibly damaging |
Het |
| Ccdc27 |
T |
A |
4: 154,126,270 (GRCm39) |
N73I |
unknown |
Het |
| Cdc42bpg |
T |
A |
19: 6,370,518 (GRCm39) |
C1204S |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,186,377 (GRCm39) |
V824D |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
A |
G |
11: 101,073,805 (GRCm39) |
Y652C |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,554,978 (GRCm39) |
I2033M |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,860 (GRCm39) |
L289P |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,081 (GRCm39) |
D529G |
probably damaging |
Het |
| Defb28 |
T |
A |
2: 152,362,064 (GRCm39) |
S75T |
probably benign |
Het |
| Dennd2a |
A |
T |
6: 39,442,053 (GRCm39) |
V939D |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,703 (GRCm39) |
R1866G |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,221,353 (GRCm39) |
|
probably null |
Het |
| Ecscr |
T |
G |
18: 35,848,490 (GRCm39) |
N184T |
probably damaging |
Het |
| Eif4ebp1 |
G |
T |
8: 27,763,372 (GRCm39) |
R55L |
probably damaging |
Het |
| Eml1 |
G |
T |
12: 108,479,258 (GRCm39) |
V344L |
probably damaging |
Het |
| Exoc2 |
G |
T |
13: 30,999,353 (GRCm39) |
N901K |
probably benign |
Het |
| Fam161b |
T |
A |
12: 84,403,202 (GRCm39) |
I143F |
probably benign |
Het |
| Fam180a |
A |
G |
6: 35,302,846 (GRCm39) |
S2P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,666 (GRCm39) |
I1779F |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,064,804 (GRCm39) |
K4920R |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,806,699 (GRCm39) |
V1006E |
probably damaging |
Het |
| Glcci1 |
A |
G |
6: 8,558,566 (GRCm39) |
S30G |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,495 (GRCm39) |
S43R |
possibly damaging |
Het |
| Hao1 |
T |
C |
2: 134,372,535 (GRCm39) |
T158A |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,059,885 (GRCm39) |
H154R |
possibly damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,304,431 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ipmk |
A |
T |
10: 71,208,579 (GRCm39) |
K122* |
probably null |
Het |
| Jakmip2 |
T |
C |
18: 43,696,395 (GRCm39) |
E518G |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,706,993 (GRCm39) |
T1519A |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,350 (GRCm39) |
I224T |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Map4k5 |
C |
T |
12: 69,863,111 (GRCm39) |
V629I |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,326 (GRCm39) |
D1037G |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mptx2 |
A |
T |
1: 173,102,145 (GRCm39) |
Y181* |
probably null |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Myo5a |
A |
G |
9: 75,089,266 (GRCm39) |
E1132G |
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,345,891 (GRCm39) |
F814L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Oit3 |
T |
G |
10: 59,266,835 (GRCm39) |
I224L |
probably benign |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pacs2 |
C |
T |
12: 113,024,731 (GRCm39) |
T407I |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,940 (GRCm39) |
I351T |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,472,838 (GRCm39) |
|
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Phip |
T |
A |
9: 82,757,352 (GRCm39) |
I1607L |
probably benign |
Het |
| Plekhd1 |
C |
A |
12: 80,739,681 (GRCm39) |
S10* |
probably null |
Het |
| Pramel24 |
T |
G |
4: 143,453,472 (GRCm39) |
Y193* |
probably null |
Het |
| Prdm1 |
C |
T |
10: 44,317,408 (GRCm39) |
D505N |
possibly damaging |
Het |
| Psmd13 |
T |
C |
7: 140,477,561 (GRCm39) |
V320A |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rere |
C |
A |
4: 150,699,047 (GRCm39) |
|
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,015,927 (GRCm39) |
S456P |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,351,210 (GRCm39) |
Q446R |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,054,323 (GRCm39) |
E210G |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,079,803 (GRCm39) |
T1891A |
probably benign |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Spin1 |
T |
C |
13: 51,298,573 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
A |
9: 31,002,669 (GRCm39) |
I745F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,419,012 (GRCm39) |
L4P |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Uty |
T |
C |
Y: 1,169,193 (GRCm39) |
E414G |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,321,356 (GRCm39) |
D586G |
unknown |
Het |
| Zfp106 |
T |
C |
2: 120,354,010 (GRCm39) |
H1490R |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,837,109 (GRCm39) |
V731A |
probably benign |
Het |
| Zyg11b |
G |
C |
4: 108,108,016 (GRCm39) |
N463K |
possibly 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 |
|
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'- CAAAGTGATGAGAATTGGTTTTGC -3'
(R):5'- TGATTTTAGCCAACAAGTTCAGG -3'
Sequencing Primer
(F):5'- GATGAGAATTGGTTTTGCAGTTTG -3'
(R):5'- TGTTGAGTTCAAAGCCAGCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation