Incidental Mutation 'R4028:Rcn1'
| ID |
313076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcn1
|
| Ensembl Gene |
ENSMUSG00000005973 |
| Gene Name |
reticulocalbin 1 |
| Synonyms |
Rcn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4028 (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: 96.8%
- 20x: 93.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,531,725 (GRCm39) |
N503K |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,167,750 (GRCm39) |
I439N |
probably damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,819,352 (GRCm39) |
N520S |
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Clec1b |
G |
A |
6: 129,378,774 (GRCm39) |
R87H |
probably benign |
Het |
| Cox7a2l |
A |
G |
17: 83,810,069 (GRCm39) |
I123T |
probably benign |
Het |
| Cyp2j5 |
A |
T |
4: 96,529,653 (GRCm39) |
Y239* |
probably null |
Het |
| Dnajc6 |
G |
A |
4: 101,474,054 (GRCm39) |
C485Y |
probably damaging |
Het |
| Dync1i1 |
C |
T |
6: 5,961,842 (GRCm39) |
S341F |
probably damaging |
Het |
| Fbln1 |
A |
G |
15: 85,111,317 (GRCm39) |
N157S |
probably benign |
Het |
| Get1 |
T |
C |
16: 95,946,784 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
A |
G |
1: 186,958,337 (GRCm39) |
S231G |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,713,433 (GRCm39) |
D816G |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,509,941 (GRCm39) |
F1261Y |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,842,458 (GRCm39) |
E790G |
probably damaging |
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 |
| Or4c3 |
T |
C |
2: 89,851,567 (GRCm39) |
N281S |
probably damaging |
Het |
| Or52k2 |
A |
T |
7: 102,254,500 (GRCm39) |
D313V |
possibly damaging |
Het |
| Pibf1 |
A |
G |
14: 99,416,777 (GRCm39) |
E450G |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,693 (GRCm39) |
N1414K |
probably benign |
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 |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Slc28a3 |
T |
C |
13: 58,758,570 (GRCm39) |
S18G |
probably benign |
Het |
| Slc7a1 |
C |
A |
5: 148,282,622 (GRCm39) |
C75F |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,079,486 (GRCm39) |
D1865G |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,769,344 (GRCm39) |
I378N |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,452 (GRCm39) |
V309A |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,125,390 (GRCm39) |
L210P |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCAACTGGCGCGATTTC -3'
(R):5'- TTGCAGAGAACCCTCCAGTC -3'
Sequencing Primer
(F):5'- CGATTTCGCTTTCGCTTTGC -3'
(R):5'- CAATGGGCGCGTGAGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation