Incidental Mutation 'IGL03003:Dsg1a'
| ID |
407423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dsg1a
|
| Ensembl Gene |
ENSMUSG00000069441 |
| Gene Name |
desmoglein 1 alpha |
| Synonyms |
Dsg1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL03003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
20443930-20476410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20469876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 634
(M634K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077146]
|
| AlphaFold |
Q61495 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077146
AA Change: M634K
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: M634K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
70 |
155 |
3.45e-14 |
SMART |
|
CA
|
179 |
267 |
3.11e-21 |
SMART |
|
CA
|
290 |
384 |
6.29e-8 |
SMART |
|
CA
|
407 |
485 |
6.44e-1 |
SMART |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
598 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
659 |
781 |
1.6e-10 |
PFAM |
|
low complexity region
|
786 |
799 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
823 |
888 |
9.56e-6 |
PROSPERO |
|
internal_repeat_1
|
908 |
975 |
9.56e-6 |
PROSPERO |
|
low complexity region
|
983 |
1004 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
| Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,390,846 (GRCm39) |
S273P |
possibly damaging |
Het |
| Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
| Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,244,094 (GRCm39) |
L142S |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
| Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
| Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
| Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,782,726 (GRCm39) |
V228L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
| Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
| Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
| Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
| Slc4a9 |
T |
C |
18: 36,669,946 (GRCm39) |
S722P |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,473,781 (GRCm39) |
W768L |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
| Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
possibly damaging |
Het |
|
| Other mutations in Dsg1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Dsg1a
|
APN |
18 |
20,473,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:Dsg1a
|
APN |
18 |
20,453,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01534:Dsg1a
|
APN |
18 |
20,474,053 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01566:Dsg1a
|
APN |
18 |
20,469,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01582:Dsg1a
|
APN |
18 |
20,461,905 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01913:Dsg1a
|
APN |
18 |
20,455,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Dsg1a
|
APN |
18 |
20,466,641 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02102:Dsg1a
|
APN |
18 |
20,465,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02900:Dsg1a
|
APN |
18 |
20,461,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL02937:Dsg1a
|
APN |
18 |
20,464,591 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02962:Dsg1a
|
APN |
18 |
20,473,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT4687001:Dsg1a
|
UTSW |
18 |
20,464,755 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0126:Dsg1a
|
UTSW |
18 |
20,473,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0200:Dsg1a
|
UTSW |
18 |
20,473,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0284:Dsg1a
|
UTSW |
18 |
20,464,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0394:Dsg1a
|
UTSW |
18 |
20,466,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Dsg1a
|
UTSW |
18 |
20,473,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Dsg1a
|
UTSW |
18 |
20,468,949 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Dsg1a
|
UTSW |
18 |
20,471,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0750:Dsg1a
|
UTSW |
18 |
20,473,210 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1300:Dsg1a
|
UTSW |
18 |
20,465,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1501:Dsg1a
|
UTSW |
18 |
20,465,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Dsg1a
|
UTSW |
18 |
20,455,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Dsg1a
|
UTSW |
18 |
20,464,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Dsg1a
|
UTSW |
18 |
20,471,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Dsg1a
|
UTSW |
18 |
20,466,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Dsg1a
|
UTSW |
18 |
20,473,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Dsg1a
|
UTSW |
18 |
20,473,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Dsg1a
|
UTSW |
18 |
20,469,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3031:Dsg1a
|
UTSW |
18 |
20,473,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Dsg1a
|
UTSW |
18 |
20,457,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Dsg1a
|
UTSW |
18 |
20,473,127 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4644:Dsg1a
|
UTSW |
18 |
20,473,785 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4661:Dsg1a
|
UTSW |
18 |
20,473,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Dsg1a
|
UTSW |
18 |
20,466,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5221:Dsg1a
|
UTSW |
18 |
20,457,071 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5257:Dsg1a
|
UTSW |
18 |
20,453,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Dsg1a
|
UTSW |
18 |
20,474,011 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5547:Dsg1a
|
UTSW |
18 |
20,469,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5702:Dsg1a
|
UTSW |
18 |
20,469,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5987:Dsg1a
|
UTSW |
18 |
20,464,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Dsg1a
|
UTSW |
18 |
20,473,304 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6170:Dsg1a
|
UTSW |
18 |
20,469,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7018:Dsg1a
|
UTSW |
18 |
20,461,795 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7201:Dsg1a
|
UTSW |
18 |
20,461,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7730:Dsg1a
|
UTSW |
18 |
20,464,768 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7814:Dsg1a
|
UTSW |
18 |
20,471,572 (GRCm39) |
splice site |
probably null |
|
|
R8185:Dsg1a
|
UTSW |
18 |
20,473,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Dsg1a
|
UTSW |
18 |
20,465,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8377:Dsg1a
|
UTSW |
18 |
20,466,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Dsg1a
|
UTSW |
18 |
20,473,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Dsg1a
|
UTSW |
18 |
20,473,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8775-TAIL:Dsg1a
|
UTSW |
18 |
20,473,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8818:Dsg1a
|
UTSW |
18 |
20,473,599 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8821:Dsg1a
|
UTSW |
18 |
20,453,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8831:Dsg1a
|
UTSW |
18 |
20,453,365 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9030:Dsg1a
|
UTSW |
18 |
20,473,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Dsg1a
|
UTSW |
18 |
20,473,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Dsg1a
|
UTSW |
18 |
20,473,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9410:Dsg1a
|
UTSW |
18 |
20,464,590 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2016-08-02 |
Incidental Mutation