Incidental Mutation 'IGL03220:Crnn'
| ID |
413628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crnn
|
| Ensembl Gene |
ENSMUSG00000078657 |
| Gene Name |
cornulin |
| Synonyms |
LOC381457 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93052096-93057125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93056674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 487
(H487Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107300]
[ENSMUST00000195515]
|
| AlphaFold |
D3YUU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107300
AA Change: H487Y
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: H487Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
45 |
1.9e-12 |
PFAM |
|
Blast:EFh
|
53 |
81 |
1e-10 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192830
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195515
AA Change: H487Y
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: H487Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
47 |
1.2e-10 |
PFAM |
|
Blast:EFh
|
53 |
81 |
1e-10 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
A |
1: 179,615,767 (GRCm39) |
E368D |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,259,653 (GRCm39) |
H271L |
probably damaging |
Het |
| Bsnd |
G |
T |
4: 106,343,962 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,653 (GRCm39) |
I887N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,070 (GRCm39) |
F155L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,606,765 (GRCm39) |
S553P |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,435,767 (GRCm39) |
N90S |
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,707 (GRCm39) |
I285L |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,546,546 (GRCm39) |
S405P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,069,720 (GRCm39) |
F1560L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,710,251 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
A |
1: 34,225,076 (GRCm39) |
Q1161K |
probably damaging |
Het |
| Dus1l |
G |
T |
11: 120,683,185 (GRCm39) |
H280N |
probably damaging |
Het |
| Gm21985 |
C |
A |
2: 112,187,829 (GRCm39) |
H964N |
possibly damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,886 (GRCm39) |
V129E |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,236,633 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,403,870 (GRCm39) |
Y86* |
probably null |
Het |
| Kif26b |
T |
G |
1: 178,692,434 (GRCm39) |
C458W |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,252,020 (GRCm39) |
V220I |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,707,521 (GRCm39) |
N7S |
possibly damaging |
Het |
| Or5ar1 |
G |
T |
2: 85,671,326 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Or5b12b |
C |
T |
19: 12,861,815 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or5b24 |
A |
C |
19: 12,912,858 (GRCm39) |
Y252S |
probably damaging |
Het |
| Prkg1 |
A |
T |
19: 30,546,637 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,274,672 (GRCm39) |
E383G |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,644,882 (GRCm39) |
V1153E |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,759,280 (GRCm39) |
I3330N |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,873,290 (GRCm39) |
D252G |
probably null |
Het |
| Shcbp1l |
T |
C |
1: 153,308,911 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
G |
A |
4: 59,082,378 (GRCm39) |
Q417* |
probably null |
Het |
| Skida1 |
T |
C |
2: 18,052,972 (GRCm39) |
D60G |
probably damaging |
Het |
| Slc9a5 |
T |
A |
8: 106,094,652 (GRCm39) |
C748S |
probably benign |
Het |
| Smc4 |
A |
T |
3: 68,916,875 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,885,286 (GRCm39) |
S247P |
possibly damaging |
Het |
| Sptb |
T |
C |
12: 76,659,684 (GRCm39) |
D1072G |
probably benign |
Het |
| St7l |
A |
T |
3: 104,782,139 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,316,692 (GRCm39) |
|
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,712 (GRCm39) |
Y153C |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,974,402 (GRCm39) |
N944K |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,544,097 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,661 (GRCm39) |
S85R |
probably benign |
Het |
| Zp2 |
A |
C |
7: 119,736,450 (GRCm39) |
L331R |
possibly damaging |
Het |
|
| Other mutations in Crnn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Crnn
|
APN |
3 |
93,055,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Crnn
|
APN |
3 |
93,055,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02393:Crnn
|
APN |
3 |
93,056,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03275:Crnn
|
APN |
3 |
93,056,725 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1698:Crnn
|
UTSW |
3 |
93,055,765 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1745:Crnn
|
UTSW |
3 |
93,054,198 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1761:Crnn
|
UTSW |
3 |
93,055,958 (GRCm39) |
missense |
probably benign |
|
|
R1974:Crnn
|
UTSW |
3 |
93,056,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2109:Crnn
|
UTSW |
3 |
93,055,747 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4179:Crnn
|
UTSW |
3 |
93,054,120 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4976:Crnn
|
UTSW |
3 |
93,055,990 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5120:Crnn
|
UTSW |
3 |
93,056,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5425:Crnn
|
UTSW |
3 |
93,056,456 (GRCm39) |
missense |
probably benign |
|
|
R5695:Crnn
|
UTSW |
3 |
93,056,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6596:Crnn
|
UTSW |
3 |
93,054,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Crnn
|
UTSW |
3 |
93,055,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Crnn
|
UTSW |
3 |
93,055,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Crnn
|
UTSW |
3 |
93,056,020 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7365:Crnn
|
UTSW |
3 |
93,055,841 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7375:Crnn
|
UTSW |
3 |
93,056,452 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7511:Crnn
|
UTSW |
3 |
93,056,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Crnn
|
UTSW |
3 |
93,056,296 (GRCm39) |
nonsense |
probably null |
|
|
R8868:Crnn
|
UTSW |
3 |
93,055,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9206:Crnn
|
UTSW |
3 |
93,054,251 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Crnn
|
UTSW |
3 |
93,056,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation