Mutagenetix > Incidental Mutation

Incidental Mutation 'R1623:Dsg1c'

174835

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

039660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1623 (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 20408234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 428 (Y428H)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054128
AA Change: Y428H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: Y428H

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: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	T	2: 22,984,356 (GRCm39)	D294V	probably damaging	Het
Actn2	A	T	13: 12,355,320 (GRCm39)	I21N	probably benign	Het
Adamts2	C	A	11: 50,558,942 (GRCm39)	P219H	possibly damaging	Het
Atg16l2	A	G	7: 100,939,113 (GRCm39)	F584L	probably benign	Het
Ccdc81	C	T	7: 89,535,390 (GRCm39)	R282Q	probably benign	Het
Ccn4	G	T	15: 66,763,448 (GRCm39)	V12L	possibly damaging	Het
Cd200r3	G	A	16: 44,771,811 (GRCm39)	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,863,731 (GRCm39)		probably null	Het
Chrne	T	C	11: 70,509,254 (GRCm39)	E109G	possibly damaging	Het
Clmp	A	G	9: 40,693,856 (GRCm39)	T358A	probably benign	Het
Cmtr1	G	T	17: 29,906,021 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,699 (GRCm39)	E389G	probably damaging	Het
Ctc1	C	T	11: 68,911,968 (GRCm39)	T49M	probably damaging	Het
Cyth3	T	A	5: 143,687,127 (GRCm39)	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 103,983,308 (GRCm39)	E1996V	probably damaging	Het
Dnah9	T	C	11: 65,928,463 (GRCm39)	M2069V	probably damaging	Het
Exosc8	T	A	3: 54,641,752 (GRCm39)	T7S	probably damaging	Het
F5	A	G	1: 164,023,191 (GRCm39)	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,683,405 (GRCm39)	I105T	probably damaging	Het
Fam181a	T	A	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbn2	G	T	18: 58,181,620 (GRCm39)	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,394,988 (GRCm39)	M209L	probably benign	Het
Gkn2	C	A	6: 87,355,152 (GRCm39)	Y120*	probably null	Het
Gm14295	T	A	2: 176,499,157 (GRCm39)	D1E	probably damaging	Het
Gpr141	A	T	13: 19,936,082 (GRCm39)		probably null	Het
Gramd2b	C	A	18: 56,565,423 (GRCm39)	P26Q	probably benign	Het
Greb1	A	G	12: 16,724,771 (GRCm39)	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,875,151 (GRCm39)	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,751,779 (GRCm39)	Y324C	probably benign	Het
Hal	C	G	10: 93,352,159 (GRCm39)	T650R	probably benign	Het
Hdac7	G	A	15: 97,706,285 (GRCm39)	Q293*	probably null	Het
Hdlbp	A	T	1: 93,351,591 (GRCm39)	N437K	probably damaging	Het
Hif1an	A	G	19: 44,557,862 (GRCm39)	D248G	probably damaging	Het
Hivep3	T	C	4: 119,952,901 (GRCm39)	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,348,051 (GRCm39)	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,381,157 (GRCm39)		probably null	Het
Inka2	G	A	3: 105,624,136 (GRCm39)	G151D	probably damaging	Het
Itgb4	C	A	11: 115,882,142 (GRCm39)	Y819*	probably null	Het
Itpripl1	T	C	2: 126,983,555 (GRCm39)	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,687,500 (GRCm39)	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,993,068 (GRCm39)	L15P	probably benign	Het
Mical1	T	G	10: 41,357,389 (GRCm39)		probably null	Het
Mical3	C	T	6: 121,001,768 (GRCm39)	V575M	probably damaging	Het
Mki67	A	T	7: 135,310,547 (GRCm39)		probably null	Het
Mocs2	G	A	13: 114,961,158 (GRCm39)	E52K	probably benign	Het
Myo7b	T	C	18: 32,133,104 (GRCm39)	N415S	probably damaging	Het
Notch1	G	A	2: 26,368,624 (GRCm39)	T555I	possibly damaging	Het
Notch3	T	C	17: 32,358,165 (GRCm39)	D1686G	probably benign	Het
Oit3	A	G	10: 59,264,061 (GRCm39)	F358L	probably damaging	Het
Or10x1	A	C	1: 174,196,515 (GRCm39)	I11L	probably benign	Het
Or6k4	A	T	1: 173,964,883 (GRCm39)	D191V	probably damaging	Het
Orai1	T	A	5: 123,167,265 (GRCm39)	I146N	probably damaging	Het
Pck1	A	G	2: 172,996,511 (GRCm39)	I142V	probably benign	Het
Pdap1	C	T	5: 145,069,739 (GRCm39)	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,525,000 (GRCm39)	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,869,510 (GRCm39)	N30S	probably damaging	Het
Pkd1	G	A	17: 24,797,243 (GRCm39)	V2551I	probably damaging	Het
Pnpla7	T	C	2: 24,942,611 (GRCm39)	V132A	probably damaging	Het
Prr35	G	A	17: 26,166,508 (GRCm39)	P343L	probably benign	Het
Rad18	C	T	6: 112,605,480 (GRCm39)	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,626,722 (GRCm39)	N258K	probably benign	Het
Riox2	A	G	16: 59,303,405 (GRCm39)	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,462,752 (GRCm39)	A292V	probably damaging	Het
Ryr1	C	T	7: 28,794,915 (GRCm39)	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,213,548 (GRCm39)	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,882,122 (GRCm39)	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031 (GRCm39)	T267S	possibly damaging	Het
Speer3	G	T	5: 13,846,335 (GRCm39)	M218I	probably benign	Het
Sptan1	A	G	2: 29,876,432 (GRCm39)	I271V	probably damaging	Het
Swap70	A	G	7: 109,863,255 (GRCm39)	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tonsl	A	G	15: 76,522,709 (GRCm39)	C181R	probably damaging	Het
Trdn	A	G	10: 33,134,098 (GRCm39)	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,206,600 (GRCm39)	M600K	probably damaging	Het
Ubr3	C	T	2: 69,808,067 (GRCm39)	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,200,588 (GRCm39)	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,267 (GRCm39)	T31S	probably benign	Het
Uspl1	T	C	5: 149,152,009 (GRCm39)	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,279 (GRCm39)	K164*	probably null	Het
Vwce	T	A	19: 10,624,108 (GRCm39)	L333*	probably null	Het
Wdr95	T	A	5: 149,497,581 (GRCm39)	L253Q	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp142	T	C	1: 74,610,934 (GRCm39)	T851A	possibly 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
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
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'- ACAGACTGTGAAACAGGTCAAGCTAC -3'
(R):5'- TCTATCCACAGGGAGCCTGAAAAGAG -3'

Sequencing Primer
(F):5'- AGGTAAGAATGGCATTTTCCAAC -3'
(R):5'- GCCTGAAAAGAGGATTTTGGTTTTAC -3'

Posted On

2014-04-24