Incidental Mutation 'IGL01540:S100z'
| ID |
90127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
S100z
|
| Ensembl Gene |
ENSMUSG00000021679 |
| Gene Name |
S100 calcium binding protein, zeta |
| Synonyms |
LOC268686 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL01540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
95613809-95615163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95613861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 83
(T83M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022186]
|
| AlphaFold |
B9EJL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022186
AA Change: T83M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022186
Gene: ENSMUSG00000021679
AA Change: T83M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
5 |
47 |
7.2e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
G |
3: 75,794,047 (GRCm39) |
E538A |
possibly damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
| Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
| Or6b2 |
A |
G |
1: 92,408,202 (GRCm39) |
L47P |
probably damaging |
Het |
| Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,984,985 (GRCm39) |
H53R |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,968,998 (GRCm39) |
E172G |
probably benign |
Het |
| Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
| Zfp512 |
T |
C |
5: 31,630,840 (GRCm39) |
V338A |
probably damaging |
Het |
|
| Other mutations in S100z |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03006:S100z
|
APN |
13 |
95,615,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5256:S100z
|
UTSW |
13 |
95,615,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6019:S100z
|
UTSW |
13 |
95,613,934 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6313:S100z
|
UTSW |
13 |
95,615,082 (GRCm39) |
nonsense |
probably null |
|
|
R6923:S100z
|
UTSW |
13 |
95,615,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:S100z
|
UTSW |
13 |
95,613,883 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2013-12-03 |
Incidental Mutation