Mutagenetix > Incidental Mutation

Incidental Mutation 'R9152:Dsg1c'

695118

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

068939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20416329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 743 (D743E)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably benign
Transcript: ENSMUST00000054128
AA Change: D743E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: D743E

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

0.0691

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	A	13: 104,613,275 (GRCm39)	R1009S	probably benign	Het
Akap13	T	A	7: 75,261,033 (GRCm39)	I1219K	probably damaging	Het
Ap3b1	T	C	13: 94,609,439 (GRCm39)		probably null	Het
Ap3b1	T	A	13: 94,630,239 (GRCm39)	D831E	unknown	Het
Arsa	G	A	15: 89,359,995 (GRCm39)		probably benign	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Cspg4	A	G	9: 56,795,463 (GRCm39)	K1066R	probably benign	Het
Cul4a	T	C	8: 13,155,799 (GRCm39)	M15T	probably benign	Het
Defb38	C	T	8: 19,076,558 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 66,021,457 (GRCm39)	D323G	probably damaging	Het
Eif1ad11	T	C	12: 87,993,946 (GRCm39)	L58P	probably damaging	Het
Elf1	T	C	14: 79,808,352 (GRCm39)	L268P	probably damaging	Het
Helq	G	T	5: 100,918,325 (GRCm39)	A863D	probably benign	Het
Hfm1	T	A	5: 106,989,611 (GRCm39)	R1368S	probably benign	Het
Hspg2	G	A	4: 137,249,876 (GRCm39)	G1379E	possibly damaging	Het
Kcnq5	A	T	1: 21,539,692 (GRCm39)		probably null	Het
Lrit2	C	T	14: 36,794,187 (GRCm39)	T417I	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Macroh2a1	CTTACCTCCAGCT	C	13: 56,232,004 (GRCm39)		probably null	Het
Mgat2	G	A	12: 69,232,497 (GRCm39)	W357*	probably null	Het
Mlkl	A	G	8: 112,046,403 (GRCm39)	L290P	probably damaging	Het
Or1j11	T	A	2: 36,311,439 (GRCm39)	S10T	possibly damaging	Het
Or2k2	T	C	4: 58,785,114 (GRCm39)	I203V	probably benign	Het
Or7g32	A	T	9: 19,408,448 (GRCm39)	I135F	probably damaging	Het
Pcnx1	T	C	12: 82,022,589 (GRCm39)	V853A		Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pik3c2a	G	A	7: 116,017,004 (GRCm39)	S251L	probably benign	Het
Prkch	T	C	12: 73,738,418 (GRCm39)	M175T	possibly damaging	Het
Psg22	A	T	7: 18,460,646 (GRCm39)	Q425L	probably damaging	Het
Qpctl	A	G	7: 18,883,025 (GRCm39)	L29P	probably damaging	Het
Ranbp10	A	T	8: 106,499,140 (GRCm39)	L549M	probably benign	Het
Rbbp6	A	G	7: 122,600,697 (GRCm39)	E1568G	unknown	Het
Rrh	A	T	3: 129,606,903 (GRCm39)	D173E	probably benign	Het
Scart2	A	T	7: 139,877,256 (GRCm39)	N857I	possibly damaging	Het
Selplg	A	G	5: 113,957,467 (GRCm39)	S280P	probably benign	Het
Septin11	T	C	5: 93,287,329 (GRCm39)	S17P	probably benign	Het
Stard9	T	C	2: 120,529,068 (GRCm39)	V1775A	probably damaging	Het
Tep1	A	C	14: 51,104,162 (GRCm39)	V244G	probably benign	Het
Tex24	A	C	8: 27,835,379 (GRCm39)	E302D	possibly damaging	Het
Trav18	A	G	14: 54,069,011 (GRCm39)	T19A	probably benign	Het
Trim56	T	C	5: 137,143,387 (GRCm39)	D43G	probably benign	Het
Trp53bp1	T	C	2: 121,029,056 (GRCm39)	T1869A	probably damaging	Het
Usp22	A	G	11: 61,049,201 (GRCm39)	C383R	probably damaging	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	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
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
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'- TGAAGGACGTCCATCCAATG -3'
(R):5'- AGTATAGGACTCCCTCACAGTG -3'

Sequencing Primer
(F):5'- GGACGTCCATCCAATGACTGTTTG -3'
(R):5'- GTGATATTACCATAGCCCAGAGGATC -3'

Posted On

2022-01-20