Incidental Mutation 'R9140:Dsc3'
| ID |
694318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc3
|
| Ensembl Gene |
ENSMUSG00000059898 |
| Gene Name |
desmocollin 3 |
| Synonyms |
5430426I24Rik |
| MMRRC Submission |
068972-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20093987-20135408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20122616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 103
(M103L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115848]
[ENSMUST00000223946]
[ENSMUST00000225110]
|
| AlphaFold |
P55850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115848
AA Change: M103L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: M103L
| 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: ENSMUST00000223946
AA Change: M103L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225110
AA Change: M103L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,170 (GRCm39) |
I77F |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,216,263 (GRCm39) |
R1509* |
probably null |
Het |
| Ago1 |
C |
A |
4: 126,336,977 (GRCm39) |
V547L |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,886,025 (GRCm39) |
Y394F |
probably damaging |
Het |
| C1qa |
A |
C |
4: 136,623,553 (GRCm39) |
I217S |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,525,224 (GRCm39) |
I1651F |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,183,270 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,723 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,791,157 (GRCm39) |
V320M |
probably damaging |
Het |
| Chrnb4 |
G |
A |
9: 54,941,955 (GRCm39) |
H440Y |
|
Het |
| Cic |
T |
C |
7: 24,985,165 (GRCm39) |
V1137A |
probably damaging |
Het |
| Ctdp1 |
C |
T |
18: 80,484,043 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Ddhd1 |
A |
C |
14: 45,894,918 (GRCm39) |
L184R |
probably benign |
Het |
| Dnttip1 |
A |
G |
2: 164,596,082 (GRCm39) |
D109G |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,226 (GRCm39) |
V118A |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,608,977 (GRCm39) |
L439S |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,428,411 (GRCm39) |
N311S |
possibly damaging |
Het |
| Fam151a |
C |
T |
4: 106,605,344 (GRCm39) |
R569* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,460,047 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,576,077 (GRCm39) |
T93A |
unknown |
Het |
| Fosl2 |
T |
C |
5: 32,310,042 (GRCm39) |
S164P |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,173,673 (GRCm39) |
T630A |
probably null |
Het |
| Gm5916 |
G |
T |
9: 36,031,982 (GRCm39) |
Q101K |
unknown |
Het |
| Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,307,934 (GRCm39) |
K474R |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,114 (GRCm39) |
F153L |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,924,596 (GRCm39) |
A268V |
probably benign |
Het |
| Kprp |
G |
T |
3: 92,732,458 (GRCm39) |
Y197* |
probably null |
Het |
| Kri1 |
C |
T |
9: 21,187,434 (GRCm39) |
R471H |
|
Het |
| Krt17 |
C |
A |
11: 100,148,476 (GRCm39) |
A322S |
possibly damaging |
Het |
| Leng9 |
A |
T |
7: 4,152,657 (GRCm39) |
D6E |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,367,855 (GRCm39) |
I2302K |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,191,490 (GRCm39) |
V17M |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,006,826 (GRCm39) |
K582E |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,507,427 (GRCm39) |
V102A |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,100,089 (GRCm39) |
G636D |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,322 (GRCm39) |
N280S |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,790,789 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,514,678 (GRCm39) |
*177R |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,455 (GRCm39) |
K959R |
probably benign |
Het |
| Plat |
A |
G |
8: 23,270,562 (GRCm39) |
D493G |
probably damaging |
Het |
| Prr30 |
A |
G |
14: 101,436,430 (GRCm39) |
L44P |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,344,180 (GRCm39) |
C477R |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,622,625 (GRCm39) |
S82G |
probably benign |
Het |
| Pygo1 |
A |
G |
9: 72,852,988 (GRCm39) |
T392A |
probably benign |
Het |
| Rad54b |
C |
A |
4: 11,610,386 (GRCm39) |
L668I |
probably damaging |
Het |
| Rdh19 |
A |
C |
10: 127,692,830 (GRCm39) |
M166L |
|
Het |
| Retnlg |
C |
A |
16: 48,693,288 (GRCm39) |
Q22K |
possibly damaging |
Het |
| Rfc3 |
G |
T |
5: 151,568,141 (GRCm39) |
T249K |
probably benign |
Het |
| Rgs16 |
T |
A |
1: 153,619,381 (GRCm39) |
V129E |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,303,445 (GRCm39) |
Y259* |
probably null |
Het |
| Sema6a |
T |
C |
18: 47,415,009 (GRCm39) |
N427S |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,487 (GRCm39) |
I229T |
possibly damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,792 (GRCm39) |
Y327N |
probably benign |
Het |
| Smtnl2 |
A |
G |
11: 72,290,793 (GRCm39) |
L384P |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,864,449 (GRCm39) |
V117F |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,216,177 (GRCm39) |
V126A |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,638,441 (GRCm39) |
T430I |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,482 (GRCm39) |
I242V |
probably damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,768,635 (GRCm39) |
V8E |
|
Het |
| Ttn |
A |
G |
2: 76,774,240 (GRCm39) |
V2268A |
unknown |
Het |
| Uspl1 |
G |
T |
5: 149,150,290 (GRCm39) |
A497S |
possibly damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,465 (GRCm39) |
N374Y |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,207 (GRCm39) |
F641S |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,643 (GRCm39) |
Y832F |
probably damaging |
Het |
| Zfp748 |
C |
T |
13: 67,689,073 (GRCm39) |
C729Y |
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 |
|
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 |
|
|
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'- AGAAGTGTTATTTCTCCATTGCTCC -3'
(R):5'- TCAAAACTGCATAGTGCTTGG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CACCTTGCACCTGGAAAATTTTTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation