Incidental Mutation 'R3872:Dsc3'
ID |
276645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dsc3
|
Ensembl Gene |
ENSMUSG00000059898 |
Gene Name |
desmocollin 3 |
Synonyms |
5430426I24Rik |
MMRRC Submission |
040790-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3872 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 20104565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 587
(K587N)
|
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: K587N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111514 Gene: ENSMUSG00000059898 AA Change: K587N
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: K587N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,045 (GRCm39) |
E1117G |
possibly damaging |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Bhmt-ps1 |
T |
C |
4: 26,369,201 (GRCm39) |
|
noncoding transcript |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
C |
7: 24,971,124 (GRCm39) |
V285A |
possibly damaging |
Het |
Col19a1 |
A |
G |
1: 24,614,408 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,890,858 (GRCm39) |
N1812S |
possibly damaging |
Het |
Cry1 |
T |
C |
10: 84,969,024 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dlx5 |
G |
T |
6: 6,878,209 (GRCm39) |
P274T |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,411,656 (GRCm39) |
K3675R |
possibly damaging |
Het |
Dpp6 |
A |
G |
5: 27,926,056 (GRCm39) |
Y710C |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Epcam |
C |
A |
17: 87,947,354 (GRCm39) |
T36K |
possibly damaging |
Het |
Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,870 (GRCm39) |
I251N |
probably damaging |
Het |
Fbxo21 |
G |
A |
5: 118,138,394 (GRCm39) |
V447I |
possibly damaging |
Het |
Firrm |
A |
T |
1: 163,814,533 (GRCm39) |
S137T |
probably damaging |
Het |
Frg2f1 |
T |
A |
4: 119,388,155 (GRCm39) |
T115S |
possibly damaging |
Het |
Hecw2 |
A |
T |
1: 53,871,916 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Iqca1 |
A |
T |
1: 90,017,203 (GRCm39) |
Y411N |
probably damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,615 (GRCm39) |
F47L |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,932,243 (GRCm39) |
H27R |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,138,342 (GRCm39) |
E791G |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,954,543 (GRCm39) |
K669* |
probably null |
Het |
Msmo1 |
C |
T |
8: 65,175,497 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
C |
7: 141,226,867 (GRCm39) |
T1387A |
probably benign |
Het |
Myo1g |
C |
T |
11: 6,464,886 (GRCm39) |
V463I |
possibly damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Pde10a |
C |
A |
17: 8,975,923 (GRCm39) |
T16K |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
Phb2 |
G |
A |
6: 124,693,394 (GRCm39) |
|
probably null |
Het |
Plin3 |
A |
G |
17: 56,591,181 (GRCm39) |
S200P |
probably damaging |
Het |
Plxna1 |
C |
A |
6: 89,309,674 (GRCm39) |
E1087* |
probably null |
Het |
Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
Sacs |
C |
T |
14: 61,385,517 (GRCm39) |
T6M |
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,438,979 (GRCm39) |
Y147C |
probably damaging |
Het |
Septin1 |
T |
C |
7: 126,814,447 (GRCm39) |
|
probably benign |
Het |
Septin5 |
A |
G |
16: 18,441,723 (GRCm39) |
L344P |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Slc35f1 |
A |
G |
10: 52,898,006 (GRCm39) |
D139G |
possibly damaging |
Het |
Sod3 |
A |
G |
5: 52,525,631 (GRCm39) |
Y110C |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,652,495 (GRCm39) |
V332A |
possibly damaging |
Het |
Tacc2 |
C |
T |
7: 130,224,152 (GRCm39) |
T279M |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,875,393 (GRCm39) |
E187G |
probably benign |
Het |
Tmem150b |
A |
T |
7: 4,727,360 (GRCm39) |
Y48* |
probably null |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r60 |
C |
T |
7: 41,785,878 (GRCm39) |
S227L |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,669,255 (GRCm39) |
V549I |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,298,868 (GRCm39) |
Y449* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCCTCCAATAGTTATTCTGCTG -3'
(R):5'- AGCAGGAGCCATCTTAATCTG -3'
Sequencing Primer
(F):5'- CTGCTGTTTCAAATCACATGAATTG -3'
(R):5'- TATGGCATGCTCCAGTAGTCACAAG -3'
|
Posted On |
2015-04-06 |