Incidental Mutation 'IGL02970:Dsc3'
| ID |
365776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20101317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 692
(W692L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115848
AA Change: W692L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: W692L
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
9.08e-41 |
SMART |
|
CA
|
156 |
241 |
4.99e-11 |
SMART |
|
CA
|
265 |
353 |
7.79e-22 |
SMART |
|
CA
|
376 |
471 |
2.66e-6 |
SMART |
|
CA
|
494 |
576 |
4.58e-19 |
SMART |
|
CA
|
595 |
677 |
3.02e-2 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
778 |
895 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225110
AA Change: W692L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
Het |
|
| Other mutations in Dsc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Dsc3
|
APN |
18 |
20,118,688 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01978:Dsc3
|
APN |
18 |
20,107,253 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02101:Dsc3
|
APN |
18 |
20,134,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02165:Dsc3
|
APN |
18 |
20,116,709 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02543:Dsc3
|
APN |
18 |
20,098,885 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03097:Dsc3
|
UTSW |
18 |
20,107,105 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0133:Dsc3
|
UTSW |
18 |
20,104,639 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0304:Dsc3
|
UTSW |
18 |
20,114,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Dsc3
|
UTSW |
18 |
20,104,639 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0673:Dsc3
|
UTSW |
18 |
20,122,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Dsc3
|
UTSW |
18 |
20,114,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1120:Dsc3
|
UTSW |
18 |
20,120,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1491:Dsc3
|
UTSW |
18 |
20,120,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Dsc3
|
UTSW |
18 |
20,124,617 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1688:Dsc3
|
UTSW |
18 |
20,099,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Dsc3
|
UTSW |
18 |
20,120,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Dsc3
|
UTSW |
18 |
20,098,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1965:Dsc3
|
UTSW |
18 |
20,113,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Dsc3
|
UTSW |
18 |
20,098,903 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2049:Dsc3
|
UTSW |
18 |
20,122,737 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2127:Dsc3
|
UTSW |
18 |
20,101,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2143:Dsc3
|
UTSW |
18 |
20,113,743 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2144:Dsc3
|
UTSW |
18 |
20,113,743 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2148:Dsc3
|
UTSW |
18 |
20,098,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3038:Dsc3
|
UTSW |
18 |
20,124,617 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3872:Dsc3
|
UTSW |
18 |
20,104,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4229:Dsc3
|
UTSW |
18 |
20,098,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Dsc3
|
UTSW |
18 |
20,113,811 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4491:Dsc3
|
UTSW |
18 |
20,134,922 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4590:Dsc3
|
UTSW |
18 |
20,122,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Dsc3
|
UTSW |
18 |
20,104,545 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5316:Dsc3
|
UTSW |
18 |
20,096,598 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5758:Dsc3
|
UTSW |
18 |
20,122,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Dsc3
|
UTSW |
18 |
20,104,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5916:Dsc3
|
UTSW |
18 |
20,120,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Dsc3
|
UTSW |
18 |
20,099,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6233:Dsc3
|
UTSW |
18 |
20,098,852 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6351:Dsc3
|
UTSW |
18 |
20,099,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6971:Dsc3
|
UTSW |
18 |
20,099,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7261:Dsc3
|
UTSW |
18 |
20,113,814 (GRCm39) |
nonsense |
probably null |
|
|
R7442:Dsc3
|
UTSW |
18 |
20,114,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Dsc3
|
UTSW |
18 |
20,099,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Dsc3
|
UTSW |
18 |
20,114,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
20,114,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Dsc3
|
UTSW |
18 |
20,101,449 (GRCm39) |
missense |
probably benign |
|
|
R8872:Dsc3
|
UTSW |
18 |
20,122,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8927:Dsc3
|
UTSW |
18 |
20,107,234 (GRCm39) |
missense |
probably benign |
|
|
R8928:Dsc3
|
UTSW |
18 |
20,107,234 (GRCm39) |
missense |
probably benign |
|
|
R9140:Dsc3
|
UTSW |
18 |
20,122,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9493:Dsc3
|
UTSW |
18 |
20,122,752 (GRCm39) |
nonsense |
probably null |
|
|
X0061:Dsc3
|
UTSW |
18 |
20,122,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dsc3
|
UTSW |
18 |
20,099,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation