Incidental Mutation 'R0696:Cdsn'
| ID |
63464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdsn
|
| Ensembl Gene |
ENSMUSG00000039518 |
| Gene Name |
corneodesmosin |
| Synonyms |
|
| MMRRC Submission |
038880-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0696 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35863025-35868077 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35866893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 474
(Q474L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044804]
|
| AlphaFold |
Q7TPC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044804
AA Change: Q474L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048596
Gene: ENSMUSG00000039518
AA Change: Q474L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
402 |
427 |
2.86e-5 |
PROSPERO |
|
low complexity region
|
431 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
469 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
504 |
528 |
2.86e-5 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with epidermal detachment. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
| Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
| Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
| Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
| Cyp7b1 |
T |
C |
3: 18,126,749 (GRCm39) |
T466A |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
| Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
| Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,743,373 (GRCm39) |
N560D |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,342,160 (GRCm39) |
N254S |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,406 (GRCm39) |
K74R |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly damaging |
Het |
|
| Other mutations in Cdsn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Cdsn
|
APN |
17 |
35,865,740 (GRCm39) |
missense |
unknown |
|
|
IGL02851:Cdsn
|
APN |
17 |
35,866,791 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
E7848:Cdsn
|
UTSW |
17 |
35,867,004 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0032:Cdsn
|
UTSW |
17 |
35,866,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Cdsn
|
UTSW |
17 |
35,867,035 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0105:Cdsn
|
UTSW |
17 |
35,867,035 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2070:Cdsn
|
UTSW |
17 |
35,865,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Cdsn
|
UTSW |
17 |
35,865,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Cdsn
|
UTSW |
17 |
35,866,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5254:Cdsn
|
UTSW |
17 |
35,863,099 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6061:Cdsn
|
UTSW |
17 |
35,865,803 (GRCm39) |
missense |
unknown |
|
|
R6117:Cdsn
|
UTSW |
17 |
35,865,931 (GRCm39) |
missense |
unknown |
|
|
R7828:Cdsn
|
UTSW |
17 |
35,865,878 (GRCm39) |
missense |
unknown |
|
|
R8174:Cdsn
|
UTSW |
17 |
35,866,529 (GRCm39) |
nonsense |
probably null |
|
|
R8337:Cdsn
|
UTSW |
17 |
35,866,415 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
RF020:Cdsn
|
UTSW |
17 |
35,865,876 (GRCm39) |
small insertion |
probably benign |
|
|
RF023:Cdsn
|
UTSW |
17 |
35,865,876 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:Cdsn
|
UTSW |
17 |
35,865,865 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Cdsn
|
UTSW |
17 |
35,866,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Cdsn
|
UTSW |
17 |
35,866,722 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCTACTTCACCAAGGACAAC -3'
(R):5'- TCCCAAAGGCTTCACTTGGGTCAG -3'
Sequencing Primer
(F):5'- ACTGGCTCTGTCAGCTCTAAG -3'
(R):5'- CACTTGGGTCAGAATGTTGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation