Incidental Mutation 'R2119:Dsc1'
| ID |
231327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc1
|
| Ensembl Gene |
ENSMUSG00000044322 |
| Gene Name |
desmocollin 1 |
| Synonyms |
Dsc1a, Dsc1b |
| MMRRC Submission |
040123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R2119 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20217241-20247928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20243209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 81
(H81Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038710]
[ENSMUST00000224432]
[ENSMUST00000226115]
|
| AlphaFold |
P55849 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038710
AA Change: H81Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042303
Gene: ENSMUSG00000044322
AA Change: H81Q
| 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 |
probably benign
Transcript: ENSMUST00000224432
AA Change: H81Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226115
AA Change: H81Q
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,391,694 (GRCm39) |
V10I |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Aifm2 |
G |
A |
10: 61,571,383 (GRCm39) |
V306M |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Atxn7l3 |
C |
A |
11: 102,182,807 (GRCm39) |
R278L |
possibly damaging |
Het |
| Bcl9 |
A |
G |
3: 97,116,231 (GRCm39) |
L821P |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,847,320 (GRCm39) |
V430I |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,363,111 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,385,281 (GRCm39) |
C133S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 17,266,749 (GRCm39) |
T59I |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,438 (GRCm39) |
D62E |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,196,075 (GRCm39) |
M428L |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,323,976 (GRCm39) |
Y523* |
probably null |
Het |
| Dlgap2 |
C |
T |
8: 14,828,206 (GRCm39) |
A538V |
possibly damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,129,982 (GRCm39) |
S919P |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,298 (GRCm39) |
S431T |
possibly damaging |
Het |
| Dync1i1 |
A |
T |
6: 5,767,096 (GRCm39) |
T59S |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
| Eef1d |
G |
T |
15: 75,775,062 (GRCm39) |
A199E |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,911,718 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
T |
1: 181,749,318 (GRCm39) |
A138E |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Gba1 |
A |
T |
3: 89,112,868 (GRCm39) |
E170V |
probably benign |
Het |
| Hdac1 |
C |
T |
4: 129,416,157 (GRCm39) |
R212Q |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,447,527 (GRCm39) |
L1740Q |
probably null |
Het |
| Inhbb |
T |
A |
1: 119,348,431 (GRCm39) |
H129L |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,691,662 (GRCm39) |
H862Q |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,025 (GRCm39) |
R1372S |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,193 (GRCm39) |
T163S |
probably benign |
Het |
| Lmo3 |
A |
T |
6: 138,393,492 (GRCm39) |
C43S |
probably damaging |
Het |
| Metrn |
C |
T |
17: 26,014,197 (GRCm39) |
V210I |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,252,442 (GRCm39) |
I284F |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or10a5 |
A |
G |
7: 106,635,938 (GRCm39) |
D192G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,905 (GRCm39) |
S403P |
probably benign |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reln |
T |
A |
5: 22,223,998 (GRCm39) |
E917V |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,943,314 (GRCm39) |
V61E |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,811,993 (GRCm39) |
|
probably null |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Serhl |
A |
G |
15: 82,999,776 (GRCm39) |
Q252R |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,042,867 (GRCm39) |
D229G |
probably benign |
Het |
| Slc35g1 |
T |
C |
19: 38,391,735 (GRCm39) |
V339A |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,034,743 (GRCm39) |
|
probably null |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tep1 |
T |
G |
14: 51,076,443 (GRCm39) |
K1664Q |
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,493,377 (GRCm39) |
K193E |
possibly damaging |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Ttc5 |
A |
T |
14: 51,012,822 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,430 (GRCm39) |
M198K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,318,297 (GRCm39) |
H66R |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,303,451 (GRCm39) |
D2487E |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,260,294 (GRCm39) |
D856G |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,817,909 (GRCm39) |
N90D |
possibly damaging |
Het |
| Zfp105 |
T |
A |
9: 122,758,743 (GRCm39) |
L138* |
probably null |
Het |
| Zfp28 |
A |
G |
7: 6,397,875 (GRCm39) |
Y770C |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,594 (GRCm39) |
L484Q |
probably damaging |
Het |
| Zfp868 |
C |
A |
8: 70,064,646 (GRCm39) |
E230* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,966,419 (GRCm39) |
Y836C |
probably damaging |
Het |
|
| Other mutations in Dsc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Dsc1
|
APN |
18 |
20,234,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTCAAGGATGATGTCAACC -3'
(R):5'- AATAGCAGGTGTTCGGTGTCC -3'
Sequencing Primer
(F):5'- GGATGATGTCAACCTTGCAGG -3'
(R):5'- GCTCCTCCTATGCATGTAGTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation