Mutagenetix > Incidental Mutation

Incidental Mutation 'R3910:Dsg1c'

309357

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

040815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20399253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 119 (V119A)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054128
AA Change: V119A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: V119A

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

Meta Mutation Damage Score

0.0984

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,386,448 (GRCm39)	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,426 (GRCm39)	T2509S	probably damaging	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,251,364 (GRCm39)		noncoding transcript	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Lgr5	A	G	10: 115,423,368 (GRCm39)	S11P	possibly damaging	Het
Mycn	T	A	12: 12,987,281 (GRCm39)	N372I	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or9a2	A	G	6: 41,749,083 (GRCm39)	V50A	probably benign	Het
Paxbp1	T	A	16: 90,839,569 (GRCm39)	E117V	probably damaging	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Robo3	A	T	9: 37,330,591 (GRCm39)	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156 (GRCm39)		probably null	Het
Thsd7a	A	G	6: 12,331,548 (GRCm39)	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ugt1a8	A	G	1: 88,015,770 (GRCm39)	E61G	possibly damaging	Het
Vmn1r75	A	T	7: 11,614,757 (GRCm39)	N163I	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Zfp119a	G	A	17: 56,173,520 (GRCm39)	L108F	probably benign	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
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'- TAATGACCCTTGTAACATCTTCACC -3'
(R):5'- AGGTTCATCCCTTGGCAGTG -3'

Sequencing Primer
(F):5'- ACATCTTCACCTGTGTCTTTATACAG -3'
(R):5'- CATCCCTTGGCAGTGGACTTAAAAG -3'

Posted On

2015-04-17