Incidental Mutation 'R8531:Dsc3'
| ID |
659082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
068501-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20101449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 648
(N648S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115848
AA Change: N648S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: N648S
| 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 benign
Transcript: ENSMUST00000225110
AA Change: N648S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,622 (GRCm39) |
R1506S |
probably benign |
Het |
| Acox2 |
T |
C |
14: 8,247,960 (GRCm38) |
T441A |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,917 (GRCm39) |
E430G |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,540,439 (GRCm39) |
E690G |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,611,873 (GRCm39) |
I101V |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,903 (GRCm39) |
I493T |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,028 (GRCm39) |
M61T |
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,273,429 (GRCm39) |
Y481H |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,319 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,334,182 (GRCm39) |
V993F |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,424,066 (GRCm39) |
Q110R |
probably null |
Het |
| Dmp1 |
A |
C |
5: 104,360,269 (GRCm39) |
D315A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,591 (GRCm39) |
K3243E |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,106 (GRCm39) |
D318G |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,163 (GRCm39) |
C118* |
probably null |
Het |
| Flad1 |
A |
C |
3: 89,310,517 (GRCm39) |
Y479D |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,929,939 (GRCm38) |
F2023S |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,531 (GRCm39) |
L189P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,779,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,468 (GRCm39) |
I123T |
probably benign |
Het |
| Ifnar1 |
T |
A |
16: 91,292,344 (GRCm39) |
C199* |
probably null |
Het |
| Lepr |
A |
T |
4: 101,622,612 (GRCm39) |
Y464F |
probably damaging |
Het |
| Mamdc4 |
G |
T |
2: 25,457,730 (GRCm39) |
Q452K |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,290,175 (GRCm39) |
|
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,034,076 (GRCm39) |
I429V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,181,074 (GRCm39) |
M1178L |
possibly damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,670 (GRCm39) |
E442G |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,612 (GRCm39) |
R82L |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,029 (GRCm39) |
M478K |
probably benign |
Het |
| Or5aq6 |
G |
T |
2: 86,923,670 (GRCm39) |
Q24K |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,693,016 (GRCm39) |
L166V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,908 (GRCm39) |
D62G |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,901,473 (GRCm39) |
R391C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,592 (GRCm39) |
Y755C |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,368 (GRCm39) |
F708I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,932 (GRCm39) |
T213S |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,601 (GRCm39) |
D395E |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,799,332 (GRCm39) |
S278P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,225,596 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
C |
G |
11: 119,365,031 (GRCm39) |
Q4563E |
probably benign |
Het |
| Rttn |
C |
A |
18: 89,131,467 (GRCm39) |
R1949S |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,788 (GRCm39) |
I140V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,115,462 (GRCm39) |
M53K |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,676,896 (GRCm39) |
D226V |
possibly damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,847 (GRCm39) |
Y459F |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,946,569 (GRCm39) |
V97A |
unknown |
Het |
| Slc26a4 |
C |
T |
12: 31,599,911 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,097,851 (GRCm39) |
Y517H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,909 (GRCm39) |
W947R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,653,239 (GRCm39) |
D167G |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,410,020 (GRCm39) |
M729K |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,538 (GRCm39) |
I37T |
possibly damaging |
Het |
| Tmem259 |
A |
G |
10: 79,813,819 (GRCm39) |
V423A |
probably damaging |
Het |
| Tmem62 |
G |
T |
2: 120,837,533 (GRCm39) |
L483F |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,031,777 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
T |
13: 59,937,074 (GRCm39) |
I1191K |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,893,720 (GRCm39) |
C20F |
possibly damaging |
Het |
| Ube2w |
A |
C |
1: 16,672,542 (GRCm39) |
N46K |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,013,922 (GRCm39) |
H300L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,049,855 (GRCm39) |
H920Q |
probably benign |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,900 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,459 (GRCm39) |
I278F |
possibly damaging |
Het |
| Zfp260 |
T |
A |
7: 29,804,884 (GRCm39) |
H261Q |
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 |
|
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 |
|
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'- AGTCACTTCTCAAGATCCTTTTGG -3'
(R):5'- GATTCTGAGGAAAGAATAAGCACTC -3'
Sequencing Primer
(F):5'- GCTATCCCAAAAGTCCCCTCTGG -3'
(R):5'- CAGCAGGCAGACTAGCTTAATCTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation