Incidental Mutation 'R8051:Dsc3'
| ID |
619076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
067488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20114270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 328
(M328K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115848
AA Change: M328K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: M328K
| 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: M328K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,750,527 (GRCm39) |
L1766Q |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,113 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,684,445 (GRCm39) |
I472F |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,244,309 (GRCm39) |
F35S |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,164,238 (GRCm39) |
|
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,473 (GRCm39) |
D346E |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,583,705 (GRCm39) |
C88S |
probably damaging |
Het |
| Cavin2 |
A |
T |
1: 51,340,283 (GRCm39) |
Q320L |
probably benign |
Het |
| Chtf18 |
C |
A |
17: 25,942,453 (GRCm39) |
V462L |
probably benign |
Het |
| Crisp3 |
A |
T |
17: 40,543,451 (GRCm39) |
S134R |
probably benign |
Het |
| Dlg4 |
C |
A |
11: 69,922,468 (GRCm39) |
|
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,526,095 (GRCm39) |
D73E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,148,383 (GRCm39) |
A2622T |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,519,501 (GRCm39) |
H938R |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,295,765 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,608,083 (GRCm39) |
V935A |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,442,776 (GRCm39) |
N2587S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gm36864 |
A |
T |
7: 43,891,976 (GRCm39) |
I385F |
probably benign |
Het |
| Il17re |
G |
T |
6: 113,436,328 (GRCm39) |
R47L |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,760,578 (GRCm39) |
|
probably null |
Het |
| Irf4 |
A |
G |
13: 30,945,456 (GRCm39) |
I401V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,400,265 (GRCm39) |
L342S |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,748,384 (GRCm39) |
C390S |
possibly damaging |
Het |
| Klhl22 |
A |
T |
16: 17,610,443 (GRCm39) |
I565F |
probably damaging |
Het |
| Krt26 |
A |
T |
11: 99,228,672 (GRCm39) |
L20Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,012,375 (GRCm39) |
V384A |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,801,045 (GRCm39) |
L80Q |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,393,952 (GRCm39) |
E491A |
possibly damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,288 (GRCm39) |
M51K |
probably damaging |
Het |
| Or11g26 |
C |
A |
14: 50,753,100 (GRCm39) |
N146K |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,213 (GRCm39) |
G39R |
probably damaging |
Het |
| Plppr3 |
T |
A |
10: 79,702,838 (GRCm39) |
T142S |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Rap1gap2 |
G |
T |
11: 74,286,651 (GRCm39) |
R550S |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,623 (GRCm39) |
N279D |
probably damaging |
Het |
| Rhox9 |
C |
T |
X: 36,990,253 (GRCm39) |
G40R |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,957,502 (GRCm39) |
T268I |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,120 (GRCm39) |
M426T |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,827,063 (GRCm39) |
Y220F |
|
Het |
| Spns1 |
T |
C |
7: 125,971,708 (GRCm39) |
T281A |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,920,171 (GRCm39) |
R2288C |
probably damaging |
Het |
| Tacstd2 |
T |
C |
6: 67,512,383 (GRCm39) |
D103G |
probably damaging |
Het |
| Tmem121 |
C |
T |
12: 113,152,487 (GRCm39) |
A235V |
probably benign |
Het |
| Try4 |
A |
G |
6: 41,281,996 (GRCm39) |
D194G |
probably damaging |
Het |
| Tyrp1 |
C |
A |
4: 80,755,897 (GRCm39) |
T222K |
probably damaging |
Het |
| Zfp57 |
T |
A |
17: 37,320,785 (GRCm39) |
V213D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,117,380 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,823 (GRCm39) |
G454R |
not run |
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 |
|
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 |
|
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'- ATGCCTCAAAGGATGGCAATAC -3'
(R):5'- TTGTAACCCCTTTGACGAAACTC -3'
Sequencing Primer
(F):5'- GGATGGCAATACCTTTTTAAGCCC -3'
(R):5'- TGAGCTGTATTAGAAAGTCACAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation