Mutagenetix > Incidental Mutation

Incidental Mutation 'R8092:Dsg1c'

629960

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

067524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20415029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 642 (Y642C)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054128]

AlphaFold

Q7TSF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054128
AA Change: Y642C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: Y642C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	1.7e-16	SMART
CA	179	267	5.2e-24	SMART
CA	290	384	4.5e-8	SMART
Blast:CA	407	488	8e-28	BLAST
low complexity region	491	500	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	545	553	N/A	INTRINSIC
Pfam:Cadherin_C	611	732	5.2e-8	PFAM
low complexity region	737	750	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,427,831 (GRCm39)	S483P	possibly damaging	Het
Agr3	T	A	12: 35,997,593 (GRCm39)		probably null	Het
Anxa4	T	C	6: 86,718,873 (GRCm39)	D282G	probably damaging	Het
Aplp2	A	C	9: 31,074,640 (GRCm39)		probably null	Het
Arfgef2	G	A	2: 166,701,754 (GRCm39)	V714M	probably damaging	Het
Cep295	A	T	9: 15,244,278 (GRCm39)	F1393I	probably benign	Het
Cfap206	G	A	4: 34,728,897 (GRCm39)	P3S	possibly damaging	Het
Chd5	T	A	4: 152,463,261 (GRCm39)	D1410E	probably damaging	Het
Chd8	T	C	14: 52,455,184 (GRCm39)	Y1101C	probably damaging	Het
Chtf8	A	G	8: 107,612,938 (GRCm39)	V121A	possibly damaging	Het
Dnajc3	A	T	14: 119,207,994 (GRCm39)		probably null	Het
Dpys	C	T	15: 39,710,010 (GRCm39)	D140N	probably benign	Het
Eif2ak4	G	A	2: 118,272,513 (GRCm39)	V901I	probably damaging	Het
Gm45861	T	C	8: 28,057,823 (GRCm39)	M1127T	unknown	Het
Gnpnat1	A	G	14: 45,618,388 (GRCm39)		probably null	Het
Hsd3b6	T	A	3: 98,713,456 (GRCm39)	D281V	possibly damaging	Het
Kng2	T	A	16: 22,806,672 (GRCm39)	Q509L	probably benign	Het
Lipo2	A	T	19: 33,726,880 (GRCm39)	D52E	probably benign	Het
Ly6g6c	A	G	17: 35,287,867 (GRCm39)	Y27C	probably damaging	Het
Mcc	G	A	18: 44,892,299 (GRCm39)	T105I	probably benign	Het
Neurl4	A	G	11: 69,801,891 (GRCm39)	K1279E	probably benign	Het
Ntmt2	A	G	1: 163,544,819 (GRCm39)	Y55H	probably damaging	Het
Ntn4	A	C	10: 93,576,918 (GRCm39)	K529Q	probably damaging	Het
Or4f57	C	A	2: 111,790,652 (GRCm39)	M255I	probably benign	Het
P2ry14	C	T	3: 59,022,867 (GRCm39)	V198M	probably damaging	Het
Pclo	T	A	5: 14,727,560 (GRCm39)	D2139E	unknown	Het
Plxnb1	T	A	9: 108,929,573 (GRCm39)	V143E	probably damaging	Het
Prune2	G	T	19: 17,097,357 (GRCm39)	D954Y	probably damaging	Het
Qrsl1	G	A	10: 43,760,749 (GRCm39)	P278L	probably damaging	Het
Rnf17	C	T	14: 56,724,479 (GRCm39)	R1108C	probably benign	Het
Sipa1l2	T	C	8: 126,145,907 (GRCm39)	S1716G	probably benign	Het
Slfn4	A	T	11: 83,079,831 (GRCm39)	H507L	probably benign	Het
Snx18	T	C	13: 113,753,685 (GRCm39)	E416G	probably damaging	Het
Srp9	T	C	1: 181,959,001 (GRCm39)	V81A	probably benign	Het
Tex101	G	A	7: 24,369,778 (GRCm39)	T62M	probably damaging	Het
Utp25	G	A	1: 192,802,671 (GRCm39)	L349F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zbtb42	G	T	12: 112,646,275 (GRCm39)	C150F	probably damaging	Het

Other mutations in Dsg1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Dsg1c	APN	18	20,407,733 (GRCm39)	missense	probably damaging	1.00
IGL00596:Dsg1c	APN	18	20,414,899 (GRCm39)	splice site	probably benign
IGL01412:Dsg1c	APN	18	20,380,518 (GRCm39)	missense	probably benign
IGL02037:Dsg1c	APN	18	20,410,007 (GRCm39)	missense	probably benign	0.02
IGL02247:Dsg1c	APN	18	20,397,373 (GRCm39)	missense	probably damaging	1.00
IGL02386:Dsg1c	APN	18	20,410,056 (GRCm39)	missense	probably benign
IGL02408:Dsg1c	APN	18	20,407,776 (GRCm39)	missense	probably damaging	1.00
IGL02519:Dsg1c	APN	18	20,416,790 (GRCm39)	missense	probably damaging	1.00
IGL02591:Dsg1c	APN	18	20,408,249 (GRCm39)	missense	probably damaging	1.00
IGL02730:Dsg1c	APN	18	20,407,887 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dsg1c	APN	18	20,400,986 (GRCm39)	missense	probably benign	0.07
IGL03335:Dsg1c	APN	18	20,416,754 (GRCm39)	missense	probably benign	0.01
Nancy	UTSW	18	20,416,171 (GRCm39)	missense	probably damaging	1.00
R0385:Dsg1c	UTSW	18	20,416,711 (GRCm39)	missense	probably damaging	1.00
R0561:Dsg1c	UTSW	18	20,407,832 (GRCm39)	missense	probably benign	0.04
R0570:Dsg1c	UTSW	18	20,403,435 (GRCm39)	missense	probably damaging	1.00
R0573:Dsg1c	UTSW	18	20,412,298 (GRCm39)	missense	probably benign	0.02
R0621:Dsg1c	UTSW	18	20,412,752 (GRCm39)	missense	possibly damaging	0.62
R0632:Dsg1c	UTSW	18	20,405,403 (GRCm39)	splice site	probably benign
R1183:Dsg1c	UTSW	18	20,416,255 (GRCm39)	missense	probably damaging	1.00
R1529:Dsg1c	UTSW	18	20,415,080 (GRCm39)	missense	probably damaging	1.00
R1596:Dsg1c	UTSW	18	20,415,104 (GRCm39)	missense	probably damaging	1.00
R1619:Dsg1c	UTSW	18	20,397,899 (GRCm39)	missense	probably benign	0.36
R1623:Dsg1c	UTSW	18	20,408,234 (GRCm39)	missense	probably damaging	1.00
R1844:Dsg1c	UTSW	18	20,416,096 (GRCm39)	splice site	probably null
R1881:Dsg1c	UTSW	18	20,405,597 (GRCm39)	splice site	probably benign
R2017:Dsg1c	UTSW	18	20,399,253 (GRCm39)	missense	possibly damaging	0.67
R2072:Dsg1c	UTSW	18	20,408,309 (GRCm39)	missense	probably benign	0.09
R2319:Dsg1c	UTSW	18	20,408,235 (GRCm39)	missense	probably damaging	1.00
R2340:Dsg1c	UTSW	18	20,400,945 (GRCm39)	missense	probably damaging	1.00
R3403:Dsg1c	UTSW	18	20,403,407 (GRCm39)	missense	probably damaging	1.00
R3407:Dsg1c	UTSW	18	20,415,115 (GRCm39)	critical splice donor site	probably null
R3874:Dsg1c	UTSW	18	20,410,109 (GRCm39)	missense	probably benign	0.02
R3910:Dsg1c	UTSW	18	20,399,253 (GRCm39)	missense	possibly damaging	0.67
R4535:Dsg1c	UTSW	18	20,408,322 (GRCm39)	missense	probably benign	0.01
R4739:Dsg1c	UTSW	18	20,408,246 (GRCm39)	missense	possibly damaging	0.95
R5038:Dsg1c	UTSW	18	20,397,901 (GRCm39)	missense	probably benign	0.00
R5165:Dsg1c	UTSW	18	20,410,080 (GRCm39)	missense	probably damaging	1.00
R5210:Dsg1c	UTSW	18	20,407,758 (GRCm39)	missense	probably damaging	0.97
R5253:Dsg1c	UTSW	18	20,405,436 (GRCm39)	missense	probably damaging	1.00
R5327:Dsg1c	UTSW	18	20,400,994 (GRCm39)	missense	possibly damaging	0.75
R5361:Dsg1c	UTSW	18	20,416,703 (GRCm39)	missense	possibly damaging	0.94
R5475:Dsg1c	UTSW	18	20,415,088 (GRCm39)	missense	probably damaging	0.99
R5512:Dsg1c	UTSW	18	20,405,568 (GRCm39)	missense	probably damaging	1.00
R5681:Dsg1c	UTSW	18	20,416,270 (GRCm39)	missense	probably damaging	1.00
R5710:Dsg1c	UTSW	18	20,405,408 (GRCm39)	missense	probably benign	0.06
R5889:Dsg1c	UTSW	18	20,416,658 (GRCm39)	missense	possibly damaging	0.87
R6513:Dsg1c	UTSW	18	20,407,687 (GRCm39)	missense	probably benign	0.01
R6596:Dsg1c	UTSW	18	20,403,581 (GRCm39)	splice site	probably null
R6941:Dsg1c	UTSW	18	20,400,980 (GRCm39)	missense	probably damaging	0.96
R7041:Dsg1c	UTSW	18	20,399,201 (GRCm39)	missense	probably damaging	1.00
R7061:Dsg1c	UTSW	18	20,410,066 (GRCm39)	missense	probably benign
R7240:Dsg1c	UTSW	18	20,416,166 (GRCm39)	missense	probably damaging	1.00
R8048:Dsg1c	UTSW	18	20,407,824 (GRCm39)	missense	probably damaging	1.00
R8103:Dsg1c	UTSW	18	20,416,171 (GRCm39)	missense	probably damaging	1.00
R8117:Dsg1c	UTSW	18	20,410,016 (GRCm39)	missense	probably benign
R8192:Dsg1c	UTSW	18	20,399,255 (GRCm39)	missense	probably damaging	1.00
R8801:Dsg1c	UTSW	18	20,410,022 (GRCm39)	missense	probably benign	0.00
R9059:Dsg1c	UTSW	18	20,408,306 (GRCm39)	missense	probably damaging	1.00
R9152:Dsg1c	UTSW	18	20,416,329 (GRCm39)	missense	probably benign	0.06
R9292:Dsg1c	UTSW	18	20,416,775 (GRCm39)	missense	probably damaging	1.00
R9469:Dsg1c	UTSW	18	20,400,947 (GRCm39)	missense	probably damaging	1.00
R9596:Dsg1c	UTSW	18	20,416,361 (GRCm39)	missense	probably benign	0.17
R9619:Dsg1c	UTSW	18	20,416,499 (GRCm39)	missense	probably damaging	1.00
R9628:Dsg1c	UTSW	18	20,397,373 (GRCm39)	missense	probably damaging	1.00
R9710:Dsg1c	UTSW	18	20,410,044 (GRCm39)	missense	probably benign
X0026:Dsg1c	UTSW	18	20,416,315 (GRCm39)	missense	probably damaging	1.00
Z1176:Dsg1c	UTSW	18	20,416,630 (GRCm39)	missense	probably damaging	1.00
Z1177:Dsg1c	UTSW	18	20,398,006 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTAACCATGCATACTTGAATG -3'
(R):5'- TCATGAAGAATAGCTTGGCGG -3'

Sequencing Primer
(F):5'- ACCATGCATACTTGAATGAAGAAAC -3'
(R):5'- CCTTACCTGGCAGAAGTA -3'

Posted On

2020-06-30