Incidental Mutation 'IGL01889:A730049H05Rik'
| ID |
179213 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
A730049H05Rik
|
| Ensembl Gene |
ENSMUSG00000048636 |
| Gene Name |
RIKEN cDNA A730049H05 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
92793424-92820449 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 92804981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057977]
[ENSMUST00000113438]
[ENSMUST00000167391]
|
| AlphaFold |
Q8C940 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057977
AA Change: C47Y
|
| SMART Domains |
Protein: ENSMUSP00000051623
Gene: ENSMUSG00000048636
AA Change: C47Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113438
|
| SMART Domains |
Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
49 |
207 |
1.8e-37 |
PFAM |
|
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
291 |
476 |
7.6e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
291 |
495 |
2e-11 |
PFAM |
|
Pfam:Reprolysin
|
293 |
499 |
7.4e-29 |
PFAM |
|
Pfam:Reprolysin_2
|
310 |
489 |
1e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
314 |
445 |
1.7e-14 |
PFAM |
|
TSP1
|
591 |
643 |
2.15e-9 |
SMART |
|
Pfam:ADAM_spacer1
|
753 |
871 |
7.3e-35 |
PFAM |
|
TSP1
|
881 |
936 |
1.14e0 |
SMART |
|
Blast:TSP1
|
938 |
993 |
2e-28 |
BLAST |
|
TSP1
|
1000 |
1054 |
3.78e-5 |
SMART |
|
TSP1
|
1055 |
1109 |
5.64e-4 |
SMART |
|
TSP1
|
1110 |
1166 |
1.25e-5 |
SMART |
|
TSP1
|
1186 |
1240 |
1.45e-6 |
SMART |
|
TSP1
|
1242 |
1296 |
4.41e-6 |
SMART |
|
TSP1
|
1328 |
1380 |
7.06e-5 |
SMART |
|
TSP1
|
1381 |
1436 |
4.24e-8 |
SMART |
|
TSP1
|
1440 |
1495 |
8.23e-6 |
SMART |
|
TSP1
|
1496 |
1551 |
1.23e-4 |
SMART |
|
TSP1
|
1552 |
1609 |
2e-4 |
SMART |
|
TSP1
|
1611 |
1672 |
1.25e-5 |
SMART |
|
TSP1
|
1676 |
1730 |
3.47e-4 |
SMART |
|
Pfam:GON
|
1732 |
1930 |
1.6e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167391
|
| SMART Domains |
Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
| Domain | Start | End | E-Value | Type |
|---|
|
TSP1
|
10 |
62 |
2.15e-9 |
SMART |
|
Pfam:ADAM_spacer1
|
172 |
290 |
6.1e-35 |
PFAM |
|
TSP1
|
300 |
355 |
1.14e0 |
SMART |
|
Blast:TSP1
|
357 |
412 |
3e-28 |
BLAST |
|
TSP1
|
419 |
473 |
3.78e-5 |
SMART |
|
TSP1
|
474 |
528 |
5.64e-4 |
SMART |
|
TSP1
|
529 |
585 |
1.25e-5 |
SMART |
|
TSP1
|
605 |
659 |
1.45e-6 |
SMART |
|
TSP1
|
661 |
715 |
4.41e-6 |
SMART |
|
TSP1
|
747 |
799 |
7.06e-5 |
SMART |
|
TSP1
|
800 |
855 |
4.24e-8 |
SMART |
|
TSP1
|
859 |
914 |
8.23e-6 |
SMART |
|
TSP1
|
915 |
970 |
1.23e-4 |
SMART |
|
TSP1
|
971 |
1028 |
2e-4 |
SMART |
|
TSP1
|
1030 |
1091 |
1.25e-5 |
SMART |
|
TSP1
|
1095 |
1149 |
3.47e-4 |
SMART |
|
Pfam:GON
|
1150 |
1350 |
2.1e-86 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brap |
G |
A |
5: 121,798,881 (GRCm39) |
V18I |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
| Gapt |
T |
A |
13: 110,490,501 (GRCm39) |
Q54L |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,327,216 (GRCm39) |
S2T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,538,444 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
| Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
| Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
| Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,264,089 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
possibly damaging |
Het |
|
| Other mutations in A730049H05Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02037:A730049H05Rik
|
APN |
6 |
92,804,997 (GRCm39) |
intron |
probably benign |
|
|
IGL02047:A730049H05Rik
|
APN |
6 |
92,808,909 (GRCm39) |
intron |
probably benign |
|
|
R1083:A730049H05Rik
|
UTSW |
6 |
92,805,046 (GRCm39) |
intron |
probably benign |
|
|
R3931:A730049H05Rik
|
UTSW |
6 |
92,811,420 (GRCm39) |
intron |
probably benign |
|
|
R6992:A730049H05Rik
|
UTSW |
6 |
92,804,975 (GRCm39) |
intron |
probably benign |
|
|
R7653:A730049H05Rik
|
UTSW |
6 |
92,805,050 (GRCm39) |
missense |
unknown |
|
|
R7886:A730049H05Rik
|
UTSW |
6 |
92,811,437 (GRCm39) |
missense |
unknown |
|
|
R8801:A730049H05Rik
|
UTSW |
6 |
92,808,972 (GRCm39) |
missense |
unknown |
|
|
R9033:A730049H05Rik
|
UTSW |
6 |
92,808,934 (GRCm39) |
missense |
unknown |
|
|
R9217:A730049H05Rik
|
UTSW |
6 |
92,808,967 (GRCm39) |
missense |
unknown |
|
|
X0065:A730049H05Rik
|
UTSW |
6 |
92,808,916 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:A730049H05Rik
|
UTSW |
6 |
92,805,047 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation