Incidental Mutation 'IGL01566:AB124611'
| ID |
90987 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AB124611
|
| Ensembl Gene |
ENSMUSG00000057191 |
| Gene Name |
cDNA sequence AB124611 |
| Synonyms |
LOC382062, HIDE1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21437472-21456629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21447285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 149
(V149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076326]
[ENSMUST00000086361]
[ENSMUST00000173769]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076326
|
| SMART Domains |
Protein: ENSMUSP00000075665
Gene: ENSMUSG00000057191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086361
AA Change: V149A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191
AA Change: V149A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Blast:IG
|
28 |
121 |
1e-12 |
BLAST |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173769
|
| SMART Domains |
Protein: ENSMUSP00000134056
Gene: ENSMUSG00000057191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Blast:IG
|
28 |
121 |
8e-13 |
BLAST |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| Casc3 |
T |
C |
11: 98,714,227 (GRCm39) |
|
probably null |
Het |
| Dhdds |
T |
C |
4: 133,718,648 (GRCm39) |
I162V |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,469,840 (GRCm39) |
|
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,034,714 (GRCm39) |
D58V |
unknown |
Het |
| Gcn1 |
A |
G |
5: 115,749,117 (GRCm39) |
N1883S |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,634,661 (GRCm39) |
L235P |
probably damaging |
Het |
| Jkampl |
G |
A |
6: 73,445,673 (GRCm39) |
T292I |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Mme |
T |
C |
3: 63,269,350 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
G |
T |
2: 38,617,901 (GRCm39) |
Q419K |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,422 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
C |
A |
8: 34,101,791 (GRCm39) |
R110S |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,965,551 (GRCm39) |
Y322C |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,465 (GRCm39) |
V174A |
probably damaging |
Het |
| St8sia4 |
G |
T |
1: 95,581,482 (GRCm39) |
R87S |
probably benign |
Het |
| Tfdp2 |
A |
G |
9: 96,177,083 (GRCm39) |
E5G |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,442,881 (GRCm39) |
I267T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,365 (GRCm39) |
L957P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,445 (GRCm39) |
|
probably benign |
Het |
| Ubqln1 |
A |
T |
13: 58,327,481 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,044,454 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in AB124611 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01528:AB124611
|
APN |
9 |
21,451,190 (GRCm39) |
splice site |
probably benign |
|
|
IGL01571:AB124611
|
APN |
9 |
21,450,377 (GRCm39) |
splice site |
probably benign |
|
|
IGL02428:AB124611
|
APN |
9 |
21,440,221 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6610:AB124611
|
UTSW |
9 |
21,437,561 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R7284:AB124611
|
UTSW |
9 |
21,450,400 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7807:AB124611
|
UTSW |
9 |
21,447,276 (GRCm39) |
missense |
probably benign |
|
|
R8300:AB124611
|
UTSW |
9 |
21,437,561 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R8417:AB124611
|
UTSW |
9 |
21,440,381 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8550:AB124611
|
UTSW |
9 |
21,451,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:AB124611
|
UTSW |
9 |
21,440,331 (GRCm39) |
missense |
probably benign |
|
|
R9156:AB124611
|
UTSW |
9 |
21,455,989 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-12-09 |
Incidental Mutation