Incidental Mutation 'R4229:Dsc3'
| ID |
320143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
041048-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20098878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 767
(T767I)
|
| 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: T767I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: T767I
| 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: T767I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1294 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
98% (42/43) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,038,740 (GRCm39) |
M221K |
probably damaging |
Het |
| Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
| H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Lipk |
A |
G |
19: 33,997,687 (GRCm39) |
Y56C |
probably damaging |
Het |
| Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,146,681 (GRCm39) |
I286V |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
| Ptprv |
C |
A |
1: 135,053,945 (GRCm39) |
|
noncoding transcript |
Het |
| Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
probably 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 |
|
IGL02970:Dsc3
|
APN |
18 |
20,101,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGTGCCACTCTGAGTATGTG -3'
(R):5'- GTGGCACTTACTGAGCTTCG -3'
Sequencing Primer
(F):5'- CCACTCTGAGTATGTGTATCTGCAG -3'
(R):5'- GTGGCACTTACTGAGCTTCGTAAAAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation