Incidental Mutation 'IGL03250:S100a7l2'
| ID |
414539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
S100a7l2
|
| Ensembl Gene |
ENSMUSG00000091175 |
| Gene Name |
S100 calcium binding protein A7 like 2 |
| Synonyms |
9130204L05Rik, LOC229550 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL03250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90995444-90998110 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 90997715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166173]
|
| AlphaFold |
G3UWB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166173
|
| SMART Domains |
Protein: ENSMUSP00000130512
Gene: ENSMUSG00000091175
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
9 |
48 |
4.4e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
| Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
| Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
| Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
| Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
| Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
possibly damaging |
Het |
|
| Other mutations in S100a7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:S100a7l2
|
APN |
3 |
90,995,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01372:S100a7l2
|
APN |
3 |
90,995,616 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01526:S100a7l2
|
APN |
3 |
90,995,612 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02894:S100a7l2
|
APN |
3 |
90,995,700 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03110:S100a7l2
|
APN |
3 |
90,995,626 (GRCm39) |
missense |
unknown |
|
|
R2357:S100a7l2
|
UTSW |
3 |
90,995,733 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3795:S100a7l2
|
UTSW |
3 |
90,995,730 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5315:S100a7l2
|
UTSW |
3 |
90,997,637 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5495:S100a7l2
|
UTSW |
3 |
90,997,602 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6314:S100a7l2
|
UTSW |
3 |
90,995,683 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8351:S100a7l2
|
UTSW |
3 |
90,995,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8451:S100a7l2
|
UTSW |
3 |
90,995,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9371:S100a7l2
|
UTSW |
3 |
90,997,698 (GRCm39) |
missense |
unknown |
|
|
Z1177:S100a7l2
|
UTSW |
3 |
90,995,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation