Incidental Mutation 'R6562:Atad5'
| ID |
522485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad5
|
| Ensembl Gene |
ENSMUSG00000017550 |
| Gene Name |
ATPase family, AAA domain containing 5 |
| Synonyms |
LOC237877, C130052G03Rik |
| MMRRC Submission |
044686-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6562 (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 80024032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1712
(S1712P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017694]
[ENSMUST00000050207]
[ENSMUST00000108239]
[ENSMUST00000131601]
|
| AlphaFold |
Q4QY64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017694
AA Change: S1715P
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550
AA Change: S1715P
| 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: ENSMUST00000050207
|
| SMART Domains |
Protein: ENSMUSP00000059304
Gene: ENSMUSG00000046909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_3
|
78 |
136 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108239
AA Change: S1712P
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550
AA Change: S1712P
| 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 benign
Transcript: ENSMUST00000131601
|
| SMART Domains |
Protein: ENSMUSP00000114770
Gene: ENSMUSG00000046909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_3
|
88 |
147 |
1.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136996
|
| SMART Domains |
Protein: ENSMUSP00000122596
Gene: ENSMUSG00000046909
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151815
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| 4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
| Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
| Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
| Ccdc158 |
T |
G |
5: 92,810,581 (GRCm39) |
K102N |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
| Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
| Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
| Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,164,635 (GRCm39) |
I297S |
probably benign |
Het |
| Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
| Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
| Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
| L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
| Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
| Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
| Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
| Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,589 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
| Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
| Pkn3 |
G |
T |
2: 29,970,699 (GRCm39) |
|
probably null |
Het |
| Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
| Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
| Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
| Siglecg |
A |
G |
7: 43,058,481 (GRCm39) |
R123G |
possibly damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
| Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
| Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
| Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
| Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
| Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
| Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
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 |
|
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 |
|
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'- TGCCTTTCACTGGACAAATGG -3'
(R):5'- TGCTTCATTTGCAGGAGAAAC -3'
Sequencing Primer
(F):5'- CCTTTCACTGGACAAATGGAAGGG -3'
(R):5'- AGCACTAAGTGTTTCCCATGAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation