Mutagenetix > Incidental Mutation

Incidental Mutation 'R5710:Dsg1c'

501434

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

044396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5710 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20405408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 274 (Y274H)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128
AA Change: Y274H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: Y274H

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	G	A	14: 68,847,357 (GRCm39)	H713Y	probably damaging	Het
Adam39	A	T	8: 41,277,684 (GRCm39)	Y25F	probably benign	Het
Ankfn1	T	C	11: 89,394,751 (GRCm39)	N278S	probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap18	G	A	10: 26,736,729 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,081,732 (GRCm39)	Q107P	probably benign	Het
Btbd9	A	G	17: 30,447,842 (GRCm39)	S525P	probably benign	Het
Cabin1	A	G	10: 75,482,852 (GRCm39)	S2093P	probably benign	Het
Ccnd1	T	C	7: 144,491,781 (GRCm39)	D86G	possibly damaging	Het
Chdh	C	A	14: 29,756,584 (GRCm39)	Q337K	probably damaging	Het
Cldn9	T	C	17: 23,902,421 (GRCm39)	D68G	probably damaging	Het
Cpt1b	T	A	15: 89,309,409 (GRCm39)	K41N	probably damaging	Het
Eif2ak3	T	A	6: 70,860,717 (GRCm39)	I431N	probably damaging	Het
Erbb2	T	A	11: 98,317,906 (GRCm39)	W416R	probably damaging	Het
Fgd3	T	A	13: 49,450,205 (GRCm39)	I15F	probably benign	Het
Fkbp14	T	A	6: 54,566,255 (GRCm39)		probably null	Het
Havcr1	T	C	11: 46,643,353 (GRCm39)	V91A	probably damaging	Het
Kmt2d	T	C	15: 98,751,987 (GRCm39)		probably benign	Het
Lipc	T	A	9: 70,719,979 (GRCm39)	I343F	probably benign	Het
Madd	T	C	2: 90,984,821 (GRCm39)	T1331A	probably damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mdga2	C	A	12: 66,553,556 (GRCm39)	L98F	probably damaging	Het
Micall1	C	A	15: 79,011,290 (GRCm39)	H553Q	probably damaging	Het
Mxd4	A	G	5: 34,344,671 (GRCm39)		probably null	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Prtg	T	A	9: 72,716,922 (GRCm39)	Y88N	probably damaging	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Sclt1	C	A	3: 41,618,398 (GRCm39)	E14*	probably null	Het
Shfl	G	T	9: 20,784,192 (GRCm39)	R138L	possibly damaging	Het
Strn	G	A	17: 78,995,028 (GRCm39)	L162F	probably damaging	Het
T	T	C	17: 8,660,474 (GRCm39)	S221P	probably benign	Het
Tbl1xr1	A	G	3: 22,264,578 (GRCm39)	D511G	probably damaging	Het
Ttc7	A	C	17: 87,597,674 (GRCm39)	N82T	probably damaging	Het
Ttn	C	T	2: 76,747,786 (GRCm39)	R4421H	possibly damaging	Het
Uaca	T	A	9: 60,779,093 (GRCm39)	L1158Q	probably damaging	Het
Vdr	T	C	15: 97,757,008 (GRCm39)	Y288C	probably damaging	Het
Vdr	A	T	15: 97,765,089 (GRCm39)	S217T	probably benign	Het
Zhx2	T	A	15: 57,684,866 (GRCm39)	Y78*	probably null	Het
Znhit1	C	T	5: 137,011,456 (GRCm39)	C119Y	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
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
R8092:Dsg1c	UTSW	18	20,415,029 (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'- CTCATTCAGTGTGCAGGTGC -3'
(R):5'- ACAACCTTCAGAGTTCCTACATTTG -3'

Sequencing Primer
(F):5'- GCTGTATTTGCTATCTACAACACCAG -3'
(R):5'- TCAGAGTTCCTACATTTGTTCTTTC -3'

Posted On

2017-12-01