Incidental Mutation 'IGL03275:Crnn'
| ID |
415390 |
| 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 # |
IGL03275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93052096-93057125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93056725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 504
(K504E)
|
| 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: K504E
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: K504E
| 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: K504E
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: K504E
| 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 |
|---|
| 1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
| Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
| Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
| Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
| Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
| Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
| Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
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 |
|
IGL03220:Crnn
|
APN |
3 |
93,056,674 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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