Incidental Mutation 'IGL00516:Dsc1'
| ID |
3384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dsc1
|
| Ensembl Gene |
ENSMUSG00000044322 |
| Gene Name |
desmocollin 1 |
| Synonyms |
Dsc1a, Dsc1b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL00516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
20217241-20247928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20234943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038710]
[ENSMUST00000224432]
|
| AlphaFold |
P55849 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038710
AA Change: D237G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: D237G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
26 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
29 |
111 |
2.61e-41 |
SMART |
|
CA
|
155 |
240 |
2.78e-9 |
SMART |
|
CA
|
264 |
352 |
5.94e-27 |
SMART |
|
CA
|
375 |
470 |
5.27e-10 |
SMART |
|
CA
|
493 |
575 |
1.18e-21 |
SMART |
|
Blast:CA
|
593 |
672 |
5e-46 |
BLAST |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224432
AA Change: D237G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224557
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
| Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
| Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
| Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
| Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
| Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
| Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
| Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
| Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dsc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Dsc1
|
APN |
18 |
20,243,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00790:Dsc1
|
APN |
18 |
20,227,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Dsc1
|
APN |
18 |
20,245,043 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL00972:Dsc1
|
APN |
18 |
20,221,420 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01112:Dsc1
|
APN |
18 |
20,227,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01458:Dsc1
|
APN |
18 |
20,232,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Dsc1
|
APN |
18 |
20,222,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Dsc1
|
APN |
18 |
20,243,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Dsc1
|
APN |
18 |
20,230,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Dsc1
|
APN |
18 |
20,241,860 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02365:Dsc1
|
APN |
18 |
20,241,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02714:Dsc1
|
APN |
18 |
20,220,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Dsc1
|
APN |
18 |
20,241,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03019:Dsc1
|
APN |
18 |
20,221,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03106:Dsc1
|
APN |
18 |
20,219,701 (GRCm39) |
splice site |
probably null |
|
|
R0414:Dsc1
|
UTSW |
18 |
20,221,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0456:Dsc1
|
UTSW |
18 |
20,232,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Dsc1
|
UTSW |
18 |
20,247,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0630:Dsc1
|
UTSW |
18 |
20,218,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Dsc1
|
UTSW |
18 |
20,229,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Dsc1
|
UTSW |
18 |
20,243,306 (GRCm39) |
splice site |
probably null |
|
|
R0976:Dsc1
|
UTSW |
18 |
20,228,098 (GRCm39) |
splice site |
probably null |
|
|
R1221:Dsc1
|
UTSW |
18 |
20,247,599 (GRCm39) |
nonsense |
probably null |
|
|
R1398:Dsc1
|
UTSW |
18 |
20,221,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Dsc1
|
UTSW |
18 |
20,229,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Dsc1
|
UTSW |
18 |
20,229,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Dsc1
|
UTSW |
18 |
20,221,353 (GRCm39) |
splice site |
probably null |
|
|
R2119:Dsc1
|
UTSW |
18 |
20,243,209 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3935:Dsc1
|
UTSW |
18 |
20,230,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4747:Dsc1
|
UTSW |
18 |
20,227,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Dsc1
|
UTSW |
18 |
20,228,084 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5243:Dsc1
|
UTSW |
18 |
20,232,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Dsc1
|
UTSW |
18 |
20,234,910 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5300:Dsc1
|
UTSW |
18 |
20,227,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Dsc1
|
UTSW |
18 |
20,220,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Dsc1
|
UTSW |
18 |
20,221,503 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5808:Dsc1
|
UTSW |
18 |
20,219,886 (GRCm39) |
nonsense |
probably null |
|
|
R5860:Dsc1
|
UTSW |
18 |
20,228,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Dsc1
|
UTSW |
18 |
20,243,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6116:Dsc1
|
UTSW |
18 |
20,230,356 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6351:Dsc1
|
UTSW |
18 |
20,219,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Dsc1
|
UTSW |
18 |
20,228,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Dsc1
|
UTSW |
18 |
20,222,711 (GRCm39) |
missense |
probably benign |
|
|
R6880:Dsc1
|
UTSW |
18 |
20,221,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6941:Dsc1
|
UTSW |
18 |
20,230,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6997:Dsc1
|
UTSW |
18 |
20,219,701 (GRCm39) |
splice site |
probably null |
|
|
R7255:Dsc1
|
UTSW |
18 |
20,230,330 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7456:Dsc1
|
UTSW |
18 |
20,219,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Dsc1
|
UTSW |
18 |
20,240,737 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7503:Dsc1
|
UTSW |
18 |
20,218,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Dsc1
|
UTSW |
18 |
20,222,628 (GRCm39) |
missense |
probably benign |
|
|
R8167:Dsc1
|
UTSW |
18 |
20,230,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Dsc1
|
UTSW |
18 |
20,222,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8701:Dsc1
|
UTSW |
18 |
20,240,739 (GRCm39) |
nonsense |
probably null |
|
|
R8928:Dsc1
|
UTSW |
18 |
20,243,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9133:Dsc1
|
UTSW |
18 |
20,234,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9144:Dsc1
|
UTSW |
18 |
20,218,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9189:Dsc1
|
UTSW |
18 |
20,232,214 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9330:Dsc1
|
UTSW |
18 |
20,243,214 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9372:Dsc1
|
UTSW |
18 |
20,221,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Dsc1
|
UTSW |
18 |
20,240,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9685:Dsc1
|
UTSW |
18 |
20,232,087 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9702:Dsc1
|
UTSW |
18 |
20,227,685 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Dsc1
|
UTSW |
18 |
20,247,595 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2012-04-20 |
Incidental Mutation