Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01412:Dsg1c'

80071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01412

Quality Score

Status

Chromosome

Chromosomal Location

20247340-20285031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20247461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 8 (I8V)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128
AA Change: I8V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: I8V

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	A	15: 12,815,872	Q222*	probably null	Het
Adamts2	A	G	11: 50,795,403	E1016G	probably benign	Het
Agmo	G	A	12: 37,402,141	E269K	possibly damaging	Het
Agrn	A	T	4: 156,171,034		probably benign	Het
Alpk1	A	T	3: 127,679,972	L794Q	possibly damaging	Het
Asb14	T	A	14: 26,915,065	L588H	probably damaging	Het
Btbd16	A	T	7: 130,805,819		probably null	Het
Cacna1h	T	C	17: 25,391,950	K625E	probably benign	Het
Cdh23	T	C	10: 60,314,694	D2499G	probably damaging	Het
Cdhr2	A	T	13: 54,725,894	D687V	probably damaging	Het
Cops8	G	T	1: 90,604,431	L45F	possibly damaging	Het
D130043K22Rik	A	G	13: 24,887,860	H929R	probably damaging	Het
Dnah12	A	G	14: 26,771,005	E1241G	probably damaging	Het
Dock4	T	A	12: 40,730,041		probably benign	Het
Dst	T	C	1: 34,242,620	V5435A	probably benign	Het
Fat4	A	G	3: 38,891,181	I1408V	probably benign	Het
Fhit	G	T	14: 9,870,065	H72N	probably damaging	Het
Foxp2	C	A	6: 15,376,758		probably benign	Het
Fpgt	T	C	3: 155,086,722	Q556R	probably benign	Het
Galntl6	T	A	8: 57,777,294	E30V	probably damaging	Het
Gemin4	A	T	11: 76,213,485	V150D	probably benign	Het
Gm13101	A	C	4: 143,964,995	V386G	probably damaging	Het
Grm8	C	T	6: 27,762,461	R255H	probably damaging	Het
Hapln3	G	A	7: 79,117,436		probably null	Het
Htt	T	A	5: 34,898,572	L2609Q	probably damaging	Het
Igdcc4	A	G	9: 65,114,449		probably benign	Het
Isx	T	C	8: 74,892,678	L166P	probably benign	Het
Kcnt2	G	A	1: 140,570,417	M884I	probably benign	Het
Leo1	A	G	9: 75,466,242	N650D	probably benign	Het
Man1a	A	G	10: 54,074,714	V195A	probably benign	Het
Map2k5	A	T	9: 63,293,706	I215N	probably damaging	Het
Mier2	A	G	10: 79,541,180	*542R	probably null	Het
Mrgbp	T	A	2: 180,583,416	F55Y	probably damaging	Het
Mum1	T	A	10: 80,234,329		probably null	Het
Nadsyn1	A	T	7: 143,808,790		probably null	Het
Nedd9	A	T	13: 41,315,786	Y630*	probably null	Het
Nrp1	T	C	8: 128,418,707		probably benign	Het
Olfr1141	A	T	2: 87,753,117	L292Q	probably damaging	Het
Olfr617	A	G	7: 103,584,907	N295S	probably damaging	Het
Olfr638	T	A	7: 104,003,635	M120K	probably damaging	Het
Olfr725	A	G	14: 50,035,313	I30T	probably benign	Het
Olfr836	T	A	9: 19,121,599	C212S	probably benign	Het
Pcnx	A	T	12: 81,906,465	I127F	probably damaging	Het
Pik3ap1	T	C	19: 41,375,890	E130G	possibly damaging	Het
Pkd1l1	G	T	11: 8,950,409	T44N	possibly damaging	Het
Polr1c	A	G	17: 46,244,209	S226P	probably damaging	Het
Prep	A	G	10: 45,153,112	Y536C	probably damaging	Het
Ptprb	A	G	10: 116,343,915	T1413A	probably benign	Het
Ryr2	T	A	13: 11,742,036	K1577N	probably benign	Het
Selplg	G	T	5: 113,819,468	T33K	probably damaging	Het
Slc26a5	T	A	5: 21,815,736	I505L	probably damaging	Het
Slc39a6	T	C	18: 24,585,356	N548S	probably damaging	Het
Sp7	T	C	15: 102,359,363	T3A	possibly damaging	Het
Tango6	T	C	8: 106,818,499	V998A	probably benign	Het
Tas2r130	A	T	6: 131,630,510	Y107*	probably null	Het
Tjp2	T	C	19: 24,100,775	E918G	probably damaging	Het
Trim12a	C	T	7: 104,306,995	A113T	probably benign	Het
Zan	T	A	5: 137,393,032	D4730V	unknown	Het
Zfp607a	A	T	7: 27,878,684	D393V	probably damaging	Het

Other mutations in Dsg1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Dsg1c	APN	18	20274676	missense	probably damaging	1.00
IGL00596:Dsg1c	APN	18	20281842	splice site	probably benign
IGL02037:Dsg1c	APN	18	20276950	missense	probably benign	0.02
IGL02247:Dsg1c	APN	18	20264316	missense	probably damaging	1.00
IGL02386:Dsg1c	APN	18	20276999	missense	probably benign
IGL02408:Dsg1c	APN	18	20274719	missense	probably damaging	1.00
IGL02519:Dsg1c	APN	18	20283733	missense	probably damaging	1.00
IGL02591:Dsg1c	APN	18	20275192	missense	probably damaging	1.00
IGL02730:Dsg1c	APN	18	20274830	missense	probably damaging	1.00
IGL02836:Dsg1c	APN	18	20267929	missense	probably benign	0.07
IGL03335:Dsg1c	APN	18	20283697	missense	probably benign	0.01
Nancy	UTSW	18	20283114	missense	probably damaging	1.00
R0385:Dsg1c	UTSW	18	20283654	missense	probably damaging	1.00
R0561:Dsg1c	UTSW	18	20274775	missense	probably benign	0.04
R0570:Dsg1c	UTSW	18	20270378	missense	probably damaging	1.00
R0573:Dsg1c	UTSW	18	20279241	missense	probably benign	0.02
R0621:Dsg1c	UTSW	18	20279695	missense	possibly damaging	0.62
R0632:Dsg1c	UTSW	18	20272346	splice site	probably benign
R1183:Dsg1c	UTSW	18	20283198	missense	probably damaging	1.00
R1529:Dsg1c	UTSW	18	20282023	missense	probably damaging	1.00
R1596:Dsg1c	UTSW	18	20282047	missense	probably damaging	1.00
R1619:Dsg1c	UTSW	18	20264842	missense	probably benign	0.36
R1623:Dsg1c	UTSW	18	20275177	missense	probably damaging	1.00
R1844:Dsg1c	UTSW	18	20283039	splice site	probably null
R1881:Dsg1c	UTSW	18	20272540	splice site	probably benign
R2017:Dsg1c	UTSW	18	20266196	missense	possibly damaging	0.67
R2072:Dsg1c	UTSW	18	20275252	missense	probably benign	0.09
R2319:Dsg1c	UTSW	18	20275178	missense	probably damaging	1.00
R2340:Dsg1c	UTSW	18	20267888	missense	probably damaging	1.00
R3403:Dsg1c	UTSW	18	20270350	missense	probably damaging	1.00
R3407:Dsg1c	UTSW	18	20282058	critical splice donor site	probably null
R3874:Dsg1c	UTSW	18	20277052	missense	probably benign	0.02
R3910:Dsg1c	UTSW	18	20266196	missense	possibly damaging	0.67
R4535:Dsg1c	UTSW	18	20275265	missense	probably benign	0.01
R4739:Dsg1c	UTSW	18	20275189	missense	possibly damaging	0.95
R5038:Dsg1c	UTSW	18	20264844	missense	probably benign	0.00
R5165:Dsg1c	UTSW	18	20277023	missense	probably damaging	1.00
R5210:Dsg1c	UTSW	18	20274701	missense	probably damaging	0.97
R5253:Dsg1c	UTSW	18	20272379	missense	probably damaging	1.00
R5327:Dsg1c	UTSW	18	20267937	missense	possibly damaging	0.75
R5361:Dsg1c	UTSW	18	20283646	missense	possibly damaging	0.94
R5475:Dsg1c	UTSW	18	20282031	missense	probably damaging	0.99
R5512:Dsg1c	UTSW	18	20272511	missense	probably damaging	1.00
R5681:Dsg1c	UTSW	18	20283213	missense	probably damaging	1.00
R5710:Dsg1c	UTSW	18	20272351	missense	probably benign	0.06
R5889:Dsg1c	UTSW	18	20283601	missense	possibly damaging	0.87
R6513:Dsg1c	UTSW	18	20274630	missense	probably benign	0.01
R6596:Dsg1c	UTSW	18	20270524	splice site	probably null
R6941:Dsg1c	UTSW	18	20267923	missense	probably damaging	0.96
R7041:Dsg1c	UTSW	18	20266144	missense	probably damaging	1.00
R7061:Dsg1c	UTSW	18	20277009	missense	probably benign
R7240:Dsg1c	UTSW	18	20283109	missense	probably damaging	1.00
R8048:Dsg1c	UTSW	18	20274767	missense	probably damaging	1.00
R8092:Dsg1c	UTSW	18	20281972	missense	probably damaging	1.00
R8103:Dsg1c	UTSW	18	20283114	missense	probably damaging	1.00
R8117:Dsg1c	UTSW	18	20276959	missense	probably benign
R8192:Dsg1c	UTSW	18	20266198	missense	probably damaging	1.00
R8801:Dsg1c	UTSW	18	20276965	missense	probably benign	0.00
R9059:Dsg1c	UTSW	18	20275249	missense	probably damaging	1.00
R9152:Dsg1c	UTSW	18	20283272	missense	probably benign	0.06
R9292:Dsg1c	UTSW	18	20283718	missense	probably damaging	1.00
R9469:Dsg1c	UTSW	18	20267890	missense	probably damaging	1.00
R9596:Dsg1c	UTSW	18	20283304	missense	probably benign	0.17
R9628:Dsg1c	UTSW	18	20264316	missense	probably damaging	1.00
X0026:Dsg1c	UTSW	18	20283258	missense	probably damaging	1.00
Z1176:Dsg1c	UTSW	18	20283573	missense	probably damaging	1.00
Z1177:Dsg1c	UTSW	18	20264949	missense	probably damaging	1.00

Posted On

2013-11-05