Incidental Mutation 'R4029:Rcn1'
ID |
313119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rcn1
|
Ensembl Gene |
ENSMUSG00000005973 |
Gene Name |
reticulocalbin 1 |
Synonyms |
Rcn |
MMRRC Submission |
040959-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4029 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
105216636-105229664 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 105229395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 52
(Y52*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006128]
|
AlphaFold |
Q05186 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006128
AA Change: Y52*
|
SMART Domains |
Protein: ENSMUSP00000006128 Gene: ENSMUSG00000005973 AA Change: Y52*
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (31/31) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCAACTGGCGCGATTTC -3'
(R):5'- CTTTCCGGTCTTGCAGAGAACC -3'
Sequencing Primer
(F):5'- CGATTTCGCTTTCGCTTTGC -3'
(R):5'- GTCTTGCAGAGAACCCTCCAGTC -3'
|
Posted On |
2015-04-30 |