Incidental Mutation 'IGL03305:A330008L17Rik'
| ID |
416365 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
A330008L17Rik
|
| Ensembl Gene |
ENSMUSG00000052479 |
| Gene Name |
RIKEN cDNA A330008L17 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL03305
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
100143306-100460070 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 100146462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093249]
[ENSMUST00000128860]
[ENSMUST00000142129]
[ENSMUST00000142475]
[ENSMUST00000145601]
[ENSMUST00000155527]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000064349
|
| SMART Domains |
Protein: ENSMUSP00000070165
Gene: ENSMUSG00000052479
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093249
|
| SMART Domains |
Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
712 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128860
|
| SMART Domains |
Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
647 |
792 |
7e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142129
|
| SMART Domains |
Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
702 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142475
|
| SMART Domains |
Protein: ENSMUSP00000115977
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
Pfam:Cadherin
|
172 |
242 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145601
|
| SMART Domains |
Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
502 |
1.27e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155527
|
| SMART Domains |
Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
745 |
1.8e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap3 |
G |
A |
6: 126,841,728 (GRCm39) |
V116I |
probably benign |
Het |
| B4galt5 |
T |
C |
2: 167,147,703 (GRCm39) |
D224G |
probably damaging |
Het |
| Bmpr1b |
G |
T |
3: 141,548,785 (GRCm39) |
|
probably benign |
Het |
| Chmp2a |
T |
C |
7: 12,766,082 (GRCm39) |
K137E |
possibly damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,011,464 (GRCm39) |
K159R |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,408,257 (GRCm39) |
Q194* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,232 (GRCm39) |
K497* |
probably null |
Het |
| Grid1 |
A |
G |
14: 34,973,664 (GRCm39) |
N247S |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,921 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,911,097 (GRCm39) |
V785A |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,474,279 (GRCm39) |
H88R |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,583,152 (GRCm39) |
V373M |
possibly damaging |
Het |
|
| Other mutations in A330008L17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:A330008L17Rik
|
APN |
8 |
100,148,586 (GRCm39) |
intron |
noncoding transcript |
|
|
IGL02214:A330008L17Rik
|
APN |
8 |
100,148,390 (GRCm39) |
intron |
noncoding transcript |
|
|
IGL03348:A330008L17Rik
|
APN |
8 |
100,148,324 (GRCm39) |
intron |
noncoding transcript |
|
|
LCD18:A330008L17Rik
|
UTSW |
8 |
100,450,057 (GRCm39) |
intron |
noncoding transcript |
|
|
R0173:A330008L17Rik
|
UTSW |
8 |
100,148,286 (GRCm39) |
intron |
noncoding transcript |
|
|
R1756:A330008L17Rik
|
UTSW |
8 |
100,148,514 (GRCm39) |
intron |
noncoding transcript |
|
|
R3829:A330008L17Rik
|
UTSW |
8 |
100,148,389 (GRCm39) |
intron |
noncoding transcript |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation