Incidental Mutation 'IGL00686:4932438H23Rik'
ID |
8482 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4932438H23Rik
|
Ensembl Gene |
ENSMUSG00000039851 |
Gene Name |
RIKEN cDNA 4932438H23 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00686
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
90841534-90866040 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90852489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 216
(S216P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035689]
[ENSMUST00000114076]
[ENSMUST00000146047]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035689
AA Change: S216P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040111 Gene: ENSMUSG00000039851 AA Change: S216P
Domain | Start | End | E-Value | Type |
Pfam:DUF4571
|
19 |
230 |
8.6e-115 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114076
AA Change: S216P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109710 Gene: ENSMUSG00000039851 AA Change: S216P
Domain | Start | End | E-Value | Type |
Pfam:DUF4571
|
20 |
230 |
2.2e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146047
|
SMART Domains |
Protein: ENSMUSP00000122640 Gene: ENSMUSG00000039851
Domain | Start | End | E-Value | Type |
Pfam:DUF4571
|
19 |
136 |
4.1e-66 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147848
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btk |
A |
G |
X: 133,460,013 (GRCm39) |
Y152H |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,641,433 (GRCm39) |
D829G |
probably damaging |
Het |
Fam135b |
A |
G |
15: 71,334,168 (GRCm39) |
S1009P |
probably benign |
Het |
Glt8d2 |
T |
A |
10: 82,487,347 (GRCm39) |
N298Y |
possibly damaging |
Het |
Samt4 |
C |
T |
X: 153,267,128 (GRCm39) |
T89I |
probably benign |
Het |
Tlcd3b |
C |
T |
7: 126,424,175 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 4932438H23Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01934:4932438H23Rik
|
APN |
16 |
90,852,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02060:4932438H23Rik
|
APN |
16 |
90,852,603 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02244:4932438H23Rik
|
APN |
16 |
90,853,085 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02623:4932438H23Rik
|
APN |
16 |
90,853,032 (GRCm39) |
missense |
probably benign |
0.02 |
PIT4810001:4932438H23Rik
|
UTSW |
16 |
90,852,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0135:4932438H23Rik
|
UTSW |
16 |
90,852,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R0932:4932438H23Rik
|
UTSW |
16 |
90,852,995 (GRCm39) |
missense |
probably benign |
0.00 |
R4591:4932438H23Rik
|
UTSW |
16 |
90,852,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R6472:4932438H23Rik
|
UTSW |
16 |
90,852,891 (GRCm39) |
missense |
probably benign |
0.00 |
R6513:4932438H23Rik
|
UTSW |
16 |
90,852,654 (GRCm39) |
missense |
probably benign |
0.00 |
R7067:4932438H23Rik
|
UTSW |
16 |
90,852,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R7472:4932438H23Rik
|
UTSW |
16 |
90,852,744 (GRCm39) |
missense |
probably benign |
0.06 |
R8369:4932438H23Rik
|
UTSW |
16 |
90,852,657 (GRCm39) |
missense |
probably benign |
0.07 |
R8469:4932438H23Rik
|
UTSW |
16 |
90,852,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R8508:4932438H23Rik
|
UTSW |
16 |
90,852,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R8680:4932438H23Rik
|
UTSW |
16 |
90,852,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R8884:4932438H23Rik
|
UTSW |
16 |
90,852,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R9166:4932438H23Rik
|
UTSW |
16 |
90,853,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9335:4932438H23Rik
|
UTSW |
16 |
90,852,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:4932438H23Rik
|
UTSW |
16 |
90,853,096 (GRCm39) |
missense |
probably benign |
0.23 |
Z1088:4932438H23Rik
|
UTSW |
16 |
90,852,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-12-06 |