Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Dsg1c'

276761

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

040792-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20247340-20285031 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20277052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 526 (I526V)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128
AA Change: I526V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: I526V

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: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	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
IGL01412:Dsg1c	APN	18	20247461	missense	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
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
R9619:Dsg1c	UTSW	18	20283442	missense	probably damaging	1.00
R9628:Dsg1c	UTSW	18	20264316	missense	probably damaging	1.00
R9710:Dsg1c	UTSW	18	20276987	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TGTTACAGATTCCCTTCAGAGG -3'
(R):5'- TGTTGTGGCCCCAGATGTAC -3'

Sequencing Primer
(F):5'- AGATTCCCTTCAGAGGACCTG -3'
(R):5'- TTGTGGCCCCAGATGTACCATAG -3'

Posted On

2015-04-06