Incidental Mutation 'IGL02393:Crnn'
| ID |
293905 |
| 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: 0.054)
|
| Stock # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93052096-93057125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93056675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 487
(H487R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107300]
[ENSMUST00000195515]
|
| AlphaFold |
D3YUU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107300
AA Change: H487R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: H487R
| 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 |
probably damaging
Transcript: ENSMUST00000195515
AA Change: H487R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: H487R
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
| Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably 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 |
|
IGL03220:Crnn
|
APN |
3 |
93,056,674 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
2015-04-16 |
Incidental Mutation