Incidental Mutation 'IGL00975:Rcn1'
ID |
27012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rcn1
|
Ensembl Gene |
ENSMUSG00000005973 |
Gene Name |
reticulocalbin 1 |
Synonyms |
Rcn |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00975
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
105216636-105229664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105225174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 94
(T94A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006128]
|
AlphaFold |
Q05186 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006128
AA Change: T94A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000006128 Gene: ENSMUSG00000005973 AA Change: T94A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EFh
|
77 |
105 |
1.45e0 |
SMART |
EFh
|
113 |
141 |
6.56e0 |
SMART |
Blast:EFh
|
164 |
192 |
3e-9 |
BLAST |
EFh
|
201 |
229 |
4.35e-2 |
SMART |
Pfam:EF-hand_5
|
244 |
267 |
1.6e-4 |
PFAM |
Blast:EFh
|
278 |
306 |
2e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127019
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
Other mutations in Rcn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02347:Rcn1
|
APN |
2 |
105,229,471 (GRCm39) |
missense |
probably benign |
0.17 |
californianus
|
UTSW |
2 |
105,219,320 (GRCm39) |
critical splice donor site |
probably null |
|
gymnogyps
|
UTSW |
2 |
105,219,518 (GRCm39) |
missense |
probably benign |
0.06 |
P0031:Rcn1
|
UTSW |
2 |
105,219,414 (GRCm39) |
nonsense |
probably null |
|
R0107:Rcn1
|
UTSW |
2 |
105,225,126 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1510:Rcn1
|
UTSW |
2 |
105,219,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Rcn1
|
UTSW |
2 |
105,229,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Rcn1
|
UTSW |
2 |
105,229,395 (GRCm39) |
nonsense |
probably null |
|
R4028:Rcn1
|
UTSW |
2 |
105,229,395 (GRCm39) |
nonsense |
probably null |
|
R4029:Rcn1
|
UTSW |
2 |
105,229,395 (GRCm39) |
nonsense |
probably null |
|
R4923:Rcn1
|
UTSW |
2 |
105,219,518 (GRCm39) |
missense |
probably benign |
0.06 |
R4956:Rcn1
|
UTSW |
2 |
105,225,121 (GRCm39) |
nonsense |
probably null |
|
R5079:Rcn1
|
UTSW |
2 |
105,229,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R5333:Rcn1
|
UTSW |
2 |
105,219,471 (GRCm39) |
missense |
probably benign |
0.00 |
R5709:Rcn1
|
UTSW |
2 |
105,225,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:Rcn1
|
UTSW |
2 |
105,222,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Rcn1
|
UTSW |
2 |
105,219,320 (GRCm39) |
critical splice donor site |
probably null |
|
R7111:Rcn1
|
UTSW |
2 |
105,219,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Rcn1
|
UTSW |
2 |
105,222,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R7974:Rcn1
|
UTSW |
2 |
105,224,055 (GRCm39) |
missense |
probably benign |
0.32 |
R8515:Rcn1
|
UTSW |
2 |
105,219,464 (GRCm39) |
missense |
probably null |
0.97 |
R9765:Rcn1
|
UTSW |
2 |
105,225,026 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2013-04-17 |