Incidental Mutation 'R0673:Dsc3'
| ID |
61545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
136 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20122647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 92
(R92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000223946]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115848
AA Change: R92S
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: R92S
| 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: ENSMUST00000223946
AA Change: R92S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225110
AA Change: R92S
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGAGAGATGGCTCCGCTGTAAAAG -3'
(R):5'- AGGCATTTCAAAACTGCATAGTGCTTG -3'
Sequencing Primer
(F):5'- agaagggagggggggag -3'
(R):5'- AAACTGCATAGTGCTTGGTTATTTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation