Incidental Mutation 'IGL01320:Crnn'
| ID |
74014 |
| 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 # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93052096-93057125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93055519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 102
(S102P)
|
| 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: S102P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: S102P
| 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 |
unknown
Transcript: ENSMUST00000192372
AA Change: S1P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192830
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195515
AA Change: S102P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: S102P
| 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 |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Crnn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation