Incidental Mutation 'R6518:Dsg3'
| ID |
520931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsg3
|
| Ensembl Gene |
ENSMUSG00000056632 |
| Gene Name |
desmoglein 3 |
| Synonyms |
|
| MMRRC Submission |
044645-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.425)
|
| Stock # |
R6518 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20643331-20674367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20666479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 563
(Y563H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070892
AA Change: Y563H
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064718
Gene: ENSMUSG00000056632
AA Change: Y563H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
70 |
155 |
3.9e-13 |
SMART |
|
CA
|
179 |
265 |
2.36e-21 |
SMART |
|
CA
|
288 |
382 |
1.55e-7 |
SMART |
|
CA
|
409 |
493 |
6.15e-11 |
SMART |
|
low complexity region
|
615 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
736 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1368 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
98% (48/49) |
| 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. Mice lacking the encoded protein exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 87,235,718 (GRCm39) |
|
|
Het |
| Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
| Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
| Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
| Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
| Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
| Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
| Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
| Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
| Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
| Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
| Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
| Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
| Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
| Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
| Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
| Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
probably damaging |
Het |
|
| Other mutations in Dsg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Dsg3
|
APN |
18 |
20,672,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00697:Dsg3
|
APN |
18 |
20,657,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00966:Dsg3
|
APN |
18 |
20,656,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01352:Dsg3
|
APN |
18 |
20,656,753 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01953:Dsg3
|
APN |
18 |
20,658,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Dsg3
|
APN |
18 |
20,660,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Dsg3
|
APN |
18 |
20,662,004 (GRCm39) |
splice site |
probably benign |
|
|
IGL02643:Dsg3
|
APN |
18 |
20,662,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02740:Dsg3
|
APN |
18 |
20,660,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03012:Dsg3
|
APN |
18 |
20,670,300 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03026:Dsg3
|
APN |
18 |
20,670,029 (GRCm39) |
splice site |
probably null |
|
|
IGL03063:Dsg3
|
APN |
18 |
20,666,425 (GRCm39) |
splice site |
probably benign |
|
|
IGL03098:Dsg3
|
APN |
18 |
20,643,422 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03132:Dsg3
|
APN |
18 |
20,657,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Dsg3
|
APN |
18 |
20,660,689 (GRCm39) |
missense |
probably benign |
|
|
P0035:Dsg3
|
UTSW |
18 |
20,673,026 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0039:Dsg3
|
UTSW |
18 |
20,654,541 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0099:Dsg3
|
UTSW |
18 |
20,673,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0109:Dsg3
|
UTSW |
18 |
20,673,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0109:Dsg3
|
UTSW |
18 |
20,673,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0143:Dsg3
|
UTSW |
18 |
20,669,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Dsg3
|
UTSW |
18 |
20,673,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Dsg3
|
UTSW |
18 |
20,672,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Dsg3
|
UTSW |
18 |
20,662,082 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0521:Dsg3
|
UTSW |
18 |
20,660,872 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1194:Dsg3
|
UTSW |
18 |
20,658,277 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1551:Dsg3
|
UTSW |
18 |
20,669,975 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1762:Dsg3
|
UTSW |
18 |
20,672,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Dsg3
|
UTSW |
18 |
20,655,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Dsg3
|
UTSW |
18 |
20,660,794 (GRCm39) |
nonsense |
probably null |
|
|
R2071:Dsg3
|
UTSW |
18 |
20,669,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Dsg3
|
UTSW |
18 |
20,656,719 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2571:Dsg3
|
UTSW |
18 |
20,673,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2945:Dsg3
|
UTSW |
18 |
20,672,992 (GRCm39) |
missense |
probably benign |
|
|
R2968:Dsg3
|
UTSW |
18 |
20,658,282 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3906:Dsg3
|
UTSW |
18 |
20,671,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Dsg3
|
UTSW |
18 |
20,664,616 (GRCm39) |
missense |
probably benign |
|
|
R4641:Dsg3
|
UTSW |
18 |
20,653,615 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4685:Dsg3
|
UTSW |
18 |
20,672,793 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5690:Dsg3
|
UTSW |
18 |
20,655,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5786:Dsg3
|
UTSW |
18 |
20,654,628 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5950:Dsg3
|
UTSW |
18 |
20,671,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Dsg3
|
UTSW |
18 |
20,653,534 (GRCm39) |
splice site |
probably null |
|
|
R6131:Dsg3
|
UTSW |
18 |
20,671,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6243:Dsg3
|
UTSW |
18 |
20,672,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Dsg3
|
UTSW |
18 |
20,657,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6327:Dsg3
|
UTSW |
18 |
20,672,927 (GRCm39) |
missense |
probably benign |
|
|
R6418:Dsg3
|
UTSW |
18 |
20,656,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6464:Dsg3
|
UTSW |
18 |
20,666,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6497:Dsg3
|
UTSW |
18 |
20,670,305 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6551:Dsg3
|
UTSW |
18 |
20,672,968 (GRCm39) |
missense |
unknown |
|
|
R6685:Dsg3
|
UTSW |
18 |
20,653,672 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6952:Dsg3
|
UTSW |
18 |
20,658,216 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7357:Dsg3
|
UTSW |
18 |
20,672,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Dsg3
|
UTSW |
18 |
20,673,254 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7456:Dsg3
|
UTSW |
18 |
20,664,420 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7506:Dsg3
|
UTSW |
18 |
20,666,521 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7570:Dsg3
|
UTSW |
18 |
20,660,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7980:Dsg3
|
UTSW |
18 |
20,664,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8100:Dsg3
|
UTSW |
18 |
20,662,028 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8147:Dsg3
|
UTSW |
18 |
20,673,130 (GRCm39) |
missense |
probably benign |
|
|
R8242:Dsg3
|
UTSW |
18 |
20,669,980 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8415:Dsg3
|
UTSW |
18 |
20,656,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Dsg3
|
UTSW |
18 |
20,673,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8930:Dsg3
|
UTSW |
18 |
20,672,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Dsg3
|
UTSW |
18 |
20,672,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Dsg3
|
UTSW |
18 |
20,666,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Dsg3
|
UTSW |
18 |
20,666,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Dsg3
|
UTSW |
18 |
20,657,742 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9498:Dsg3
|
UTSW |
18 |
20,658,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9598:Dsg3
|
UTSW |
18 |
20,672,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Dsg3
|
UTSW |
18 |
20,666,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Dsg3
|
UTSW |
18 |
20,672,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9794:Dsg3
|
UTSW |
18 |
20,673,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCAACTCTGCTATTTGTGACC -3'
(R):5'- TGGACCCTGAAGAACACGTC -3'
Sequencing Primer
(F):5'- CTATTTGTGACCAGGATGCCAAGAC -3'
(R):5'- TGAAGAACACGTCTGCTTACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation