Incidental Mutation 'R6596:Crnn'
| ID |
525958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crnn
|
| Ensembl Gene |
ENSMUSG00000078657 |
| Gene Name |
cornulin |
| Synonyms |
LOC381457 |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93052096-93057125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93054182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 22
(E22K)
|
| 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: E22K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: E22K
| 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 |
probably damaging
Transcript: ENSMUST00000195515
AA Change: E22K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: E22K
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGTCTGAGTGCTTCTC -3'
(R):5'- AGGACACTTGAATTTGGCTCC -3'
Sequencing Primer
(F):5'- GAGTGCTTCTCCTTCTCATCAGAAAG -3'
(R):5'- GGACACTTGAATTTGGCTCCTTACTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation