Incidental Mutation 'R5709:Rcn1'
| ID |
452120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcn1
|
| Ensembl Gene |
ENSMUSG00000005973 |
| Gene Name |
reticulocalbin 1 |
| Synonyms |
Rcn |
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
105216636-105229664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105225128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 109
(Y109C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006128]
|
| AlphaFold |
Q05186 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006128
AA Change: Y109C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: Y109C
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
probably benign |
Het |
|
| Other mutations in Rcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Rcn1
|
APN |
2 |
105,225,174 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACAATGGGTTTTACTCGG -3'
(R):5'- CTGCAAATTGCTGGACATGTTG -3'
Sequencing Primer
(F):5'- TACTCGGAAGGTTGTGACAGC -3'
(R):5'- TTGCTGGGCCAAGACAAGTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation