Incidental Mutation 'R2198:Dsg4'
| ID |
238531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsg4
|
| Ensembl Gene |
ENSMUSG00000001804 |
| Gene Name |
desmoglein 4 |
| Synonyms |
CDHF13, lah |
| MMRRC Submission |
040200-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R2198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
20569232-20604878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20594499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 543
(S543P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019426]
|
| AlphaFold |
Q7TMD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019426
AA Change: S543P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019426
Gene: ENSMUSG00000001804
AA Change: S543P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
CA
|
70 |
155 |
1.54e-11 |
SMART |
|
CA
|
179 |
267 |
4.27e-19 |
SMART |
|
CA
|
290 |
384 |
5.48e-8 |
SMART |
|
CA
|
411 |
495 |
9.4e-7 |
SMART |
|
transmembrane domain
|
634 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
736 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
749 |
849 |
3.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.1159 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (60/61) |
| 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. This gene is expressed in the suprabasal epidermis and hair follicle. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the lanceolate hair phenotype in mice. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
T |
C |
14: 66,875,385 (GRCm39) |
I120T |
probably damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,627,464 (GRCm39) |
P186L |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,255 (GRCm39) |
K251R |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,728,226 (GRCm39) |
E789G |
possibly damaging |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,324,220 (GRCm39) |
|
probably benign |
Het |
| Carf |
G |
A |
1: 60,180,643 (GRCm39) |
R355H |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Celf6 |
G |
T |
9: 59,510,622 (GRCm39) |
L169F |
possibly damaging |
Het |
| Cep295nl |
A |
T |
11: 118,223,419 (GRCm39) |
I475N |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,753,489 (GRCm39) |
S133T |
possibly damaging |
Het |
| Cnot6l |
C |
T |
5: 96,227,800 (GRCm39) |
D478N |
possibly damaging |
Het |
| Ctnna3 |
C |
A |
10: 64,838,524 (GRCm39) |
T867K |
probably benign |
Het |
| Ctse |
T |
G |
1: 131,600,185 (GRCm39) |
Y311* |
probably null |
Het |
| Ddx60 |
T |
A |
8: 62,411,097 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,750,325 (GRCm39) |
F3927L |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,567 (GRCm39) |
T237S |
probably benign |
Het |
| Eml6 |
T |
G |
11: 29,800,935 (GRCm39) |
H357P |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,664,507 (GRCm39) |
I38V |
possibly damaging |
Het |
| Erap1 |
C |
T |
13: 74,794,806 (GRCm39) |
T155I |
probably damaging |
Het |
| Erh |
T |
C |
12: 80,689,559 (GRCm39) |
|
probably benign |
Het |
| F5 |
A |
T |
1: 164,034,603 (GRCm39) |
K1834M |
probably damaging |
Het |
| Fyn |
A |
G |
10: 39,405,541 (GRCm39) |
E269G |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,690,229 (GRCm39) |
T42A |
probably benign |
Het |
| Grm1 |
T |
G |
10: 10,658,520 (GRCm39) |
R323S |
probably damaging |
Het |
| Gstt4 |
T |
C |
10: 75,658,235 (GRCm39) |
D8G |
probably damaging |
Het |
| Gvin-ps3 |
T |
A |
7: 105,682,758 (GRCm39) |
M166L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,643,698 (GRCm39) |
D94G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,101,575 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,289,100 (GRCm39) |
F1210Y |
probably damaging |
Het |
| Nifk |
A |
G |
1: 118,257,130 (GRCm39) |
R88G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,487,925 (GRCm39) |
M803I |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,950 (GRCm39) |
M1T |
probably null |
Het |
| Or2y16 |
C |
T |
11: 49,334,786 (GRCm39) |
S36F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,915 (GRCm39) |
Y130* |
probably null |
Het |
| Or8g18 |
G |
A |
9: 39,149,048 (GRCm39) |
T224I |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,852,466 (GRCm39) |
M272K |
probably damaging |
Het |
| Ppp1cb |
G |
T |
5: 32,640,704 (GRCm39) |
C139F |
probably damaging |
Het |
| Rad23b |
G |
A |
4: 55,385,497 (GRCm39) |
G345R |
possibly damaging |
Het |
| Shc4 |
A |
T |
2: 125,481,266 (GRCm39) |
V548E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,691,001 (GRCm39) |
|
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,715,685 (GRCm39) |
K783* |
probably null |
Het |
| Sobp |
A |
C |
10: 42,898,520 (GRCm39) |
I355S |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,899,779 (GRCm39) |
Y491H |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,147 (GRCm39) |
V727A |
probably damaging |
Het |
| Tmprss9 |
C |
T |
10: 80,723,293 (GRCm39) |
P251L |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,315,803 (GRCm39) |
D994E |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,340,221 (GRCm39) |
D466N |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,520,872 (GRCm39) |
F394L |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,980,970 (GRCm39) |
Y144F |
probably benign |
Het |
| Usp22 |
A |
G |
11: 61,050,163 (GRCm39) |
F324S |
probably damaging |
Het |
| Vmn1r78 |
G |
T |
7: 11,886,487 (GRCm39) |
V33F |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,336,907 (GRCm39) |
R1494Q |
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,226,697 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h14 |
G |
A |
12: 98,719,068 (GRCm39) |
M144I |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,719,069 (GRCm39) |
V145M |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 29,756,936 (GRCm39) |
T49A |
probably benign |
Het |
|
| Other mutations in Dsg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Dsg4
|
APN |
18 |
20,594,383 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01723:Dsg4
|
APN |
18 |
20,599,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02249:Dsg4
|
APN |
18 |
20,594,361 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02445:Dsg4
|
APN |
18 |
20,579,307 (GRCm39) |
splice site |
probably benign |
|
|
IGL02553:Dsg4
|
APN |
18 |
20,595,577 (GRCm39) |
missense |
probably benign |
|
|
IGL02578:Dsg4
|
APN |
18 |
20,604,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02634:Dsg4
|
APN |
18 |
20,591,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02677:Dsg4
|
APN |
18 |
20,597,933 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02741:Dsg4
|
APN |
18 |
20,604,553 (GRCm39) |
missense |
probably benign |
|
|
IGL02747:Dsg4
|
APN |
18 |
20,579,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03342:Dsg4
|
APN |
18 |
20,584,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
burrito
|
UTSW |
18 |
20,584,919 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
woodshed
|
UTSW |
18 |
20,584,929 (GRCm39) |
nonsense |
probably null |
|
|
R0043:Dsg4
|
UTSW |
18 |
20,586,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Dsg4
|
UTSW |
18 |
20,603,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Dsg4
|
UTSW |
18 |
20,591,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Dsg4
|
UTSW |
18 |
20,594,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0622:Dsg4
|
UTSW |
18 |
20,582,845 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0765:Dsg4
|
UTSW |
18 |
20,587,703 (GRCm39) |
splice site |
probably benign |
|
|
R0786:Dsg4
|
UTSW |
18 |
20,582,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1114:Dsg4
|
UTSW |
18 |
20,599,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1249:Dsg4
|
UTSW |
18 |
20,579,929 (GRCm39) |
nonsense |
probably null |
|
|
R1372:Dsg4
|
UTSW |
18 |
20,582,733 (GRCm39) |
splice site |
probably null |
|
|
R1382:Dsg4
|
UTSW |
18 |
20,598,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1392:Dsg4
|
UTSW |
18 |
20,579,304 (GRCm39) |
splice site |
probably benign |
|
|
R1442:Dsg4
|
UTSW |
18 |
20,595,717 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1503:Dsg4
|
UTSW |
18 |
20,582,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Dsg4
|
UTSW |
18 |
20,604,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Dsg4
|
UTSW |
18 |
20,595,518 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Dsg4
|
UTSW |
18 |
20,589,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1817:Dsg4
|
UTSW |
18 |
20,604,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Dsg4
|
UTSW |
18 |
20,604,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Dsg4
|
UTSW |
18 |
20,599,693 (GRCm39) |
nonsense |
probably null |
|
|
R2097:Dsg4
|
UTSW |
18 |
20,604,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Dsg4
|
UTSW |
18 |
20,584,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:Dsg4
|
UTSW |
18 |
20,604,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Dsg4
|
UTSW |
18 |
20,582,291 (GRCm39) |
missense |
probably benign |
|
|
R3955:Dsg4
|
UTSW |
18 |
20,582,432 (GRCm39) |
splice site |
probably null |
|
|
R4006:Dsg4
|
UTSW |
18 |
20,604,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4012:Dsg4
|
UTSW |
18 |
20,584,919 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4171:Dsg4
|
UTSW |
18 |
20,591,636 (GRCm39) |
nonsense |
probably null |
|
|
R4254:Dsg4
|
UTSW |
18 |
20,604,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4504:Dsg4
|
UTSW |
18 |
20,594,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4559:Dsg4
|
UTSW |
18 |
20,603,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Dsg4
|
UTSW |
18 |
20,604,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Dsg4
|
UTSW |
18 |
20,595,470 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4683:Dsg4
|
UTSW |
18 |
20,594,466 (GRCm39) |
missense |
probably benign |
|
|
R4700:Dsg4
|
UTSW |
18 |
20,589,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4749:Dsg4
|
UTSW |
18 |
20,579,888 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4775:Dsg4
|
UTSW |
18 |
20,604,184 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4809:Dsg4
|
UTSW |
18 |
20,599,678 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5276:Dsg4
|
UTSW |
18 |
20,579,896 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5426:Dsg4
|
UTSW |
18 |
20,591,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Dsg4
|
UTSW |
18 |
20,595,549 (GRCm39) |
nonsense |
probably null |
|
|
R5982:Dsg4
|
UTSW |
18 |
20,598,226 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6280:Dsg4
|
UTSW |
18 |
20,599,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Dsg4
|
UTSW |
18 |
20,582,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Dsg4
|
UTSW |
18 |
20,604,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7013:Dsg4
|
UTSW |
18 |
20,591,578 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7040:Dsg4
|
UTSW |
18 |
20,584,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7196:Dsg4
|
UTSW |
18 |
20,599,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Dsg4
|
UTSW |
18 |
20,579,323 (GRCm39) |
nonsense |
probably null |
|
|
R7438:Dsg4
|
UTSW |
18 |
20,599,685 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7490:Dsg4
|
UTSW |
18 |
20,584,993 (GRCm39) |
splice site |
probably null |
|
|
R7612:Dsg4
|
UTSW |
18 |
20,604,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Dsg4
|
UTSW |
18 |
20,582,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Dsg4
|
UTSW |
18 |
20,587,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Dsg4
|
UTSW |
18 |
20,604,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Dsg4
|
UTSW |
18 |
20,582,788 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8554:Dsg4
|
UTSW |
18 |
20,586,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Dsg4
|
UTSW |
18 |
20,584,929 (GRCm39) |
nonsense |
probably null |
|
|
R9059:Dsg4
|
UTSW |
18 |
20,604,182 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9508:Dsg4
|
UTSW |
18 |
20,604,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Dsg4
|
UTSW |
18 |
20,586,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9765:Dsg4
|
UTSW |
18 |
20,604,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTGAGATTCCTGATGCC -3'
(R):5'- AGCAACTAGGATGGTTTTGAACTCAC -3'
Sequencing Primer
(F):5'- GAGATTCCTGATGCCAACGATTACTG -3'
(R):5'- TTGAACTCACAGATATCTACCTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation