Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Dsg1c'

688892

Institutional Source

Beutler Lab

Gene Symbol

Dsg1c

Ensembl Gene

ENSMUSG00000034774

Gene Name

desmoglein 1 gamma

Synonyms

Dsg6

MMRRC Submission

068885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20380397-20418088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20408306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 452 (T452S)

Ref Sequence

ENSEMBL: ENSMUSP00000054799 (fasta)

Gene Model

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

AlphaFold

Q7TSF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054128
AA Change: T452S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054799
Gene: ENSMUSG00000034774
AA Change: T452S

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

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,124,732 (GRCm39)	D48E	probably benign	Het
Ablim2	A	G	5: 35,959,850 (GRCm39)	T101A	probably damaging	Het
Acot8	A	G	2: 164,634,829 (GRCm39)	S316P	probably benign	Het
Acta2	G	T	19: 34,219,155 (GRCm39)	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,562,692 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,455,073 (GRCm39)	D57G	probably damaging	Het
Azin2	A	G	4: 128,828,440 (GRCm39)	Y351H	probably benign	Het
Ccdc142	T	C	6: 83,079,400 (GRCm39)	C246R	probably damaging	Het
Col25a1	C	A	3: 130,268,499 (GRCm39)	Q179K	unknown	Het
Ddx46	C	T	13: 55,799,921 (GRCm39)	A277V	probably benign	Het
Diaph1	T	A	18: 38,022,798 (GRCm39)	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,094,578 (GRCm39)	P830L	probably benign	Het
Dnah3	C	G	7: 119,684,368 (GRCm39)	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,812 (GRCm39)	D550G	probably benign	Het
Dph3	T	C	14: 31,807,384 (GRCm39)	N31D	probably benign	Het
Dsg4	T	A	18: 20,604,182 (GRCm39)	M883K	possibly damaging	Het
Efcab3	T	C	11: 104,642,689 (GRCm39)	V1104A	possibly damaging	Het
Epn1	T	G	7: 5,098,067 (GRCm39)	S293A	probably benign	Het
Fggy	T	A	4: 95,688,841 (GRCm39)	Y318*	probably null	Het
Hip1	A	G	5: 135,457,597 (GRCm39)	L703P	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,970,180 (GRCm39)		probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Larp4	A	G	15: 99,889,693 (GRCm39)	E204G	probably benign	Het
Lbr	A	G	1: 181,645,119 (GRCm39)	I511T		Het
Lingo3	G	T	10: 80,670,523 (GRCm39)	T469K	probably benign	Het
Lrrc30	A	T	17: 67,938,798 (GRCm39)	W261R	probably damaging	Het
Man2b1	T	C	8: 85,818,155 (GRCm39)	V442A	probably damaging	Het
Mroh3	T	A	1: 136,109,533 (GRCm39)	R891S	probably benign	Het
Mtcl1	T	A	17: 66,650,606 (GRCm39)	M1620L	probably benign	Het
Myo18a	T	C	11: 77,668,899 (GRCm39)	V253A	possibly damaging	Het
Or5b101	A	T	19: 13,005,277 (GRCm39)	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,652,722 (GRCm39)	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,883,254 (GRCm39)	V294A	probably benign	Het
Ptk7	A	T	17: 46,877,117 (GRCm39)	D980E	probably damaging	Het
Rdh11	T	A	12: 79,238,713 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,365,805 (GRCm39)	L558R	probably damaging	Het
Slc22a26	C	T	19: 7,762,559 (GRCm39)	M460I	probably benign	Het
Smc1b	G	A	15: 85,004,875 (GRCm39)	Q400*	probably null	Het
Spg11	T	C	2: 121,918,788 (GRCm39)	E947G	probably damaging	Het
Stab1	T	C	14: 30,876,805 (GRCm39)	I840V	probably benign	Het
Tlk1	T	C	2: 70,617,277 (GRCm39)	T68A	possibly damaging	Het
Traip	A	G	9: 107,840,549 (GRCm39)	I273V	probably benign	Het
Trim30c	T	G	7: 104,031,272 (GRCm39)	*514C	probably null	Het
U2surp	A	G	9: 95,363,716 (GRCm39)	Y615H	probably 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
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
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'- TCCAGAAAACTGGCAGCATG -3'
(R):5'- TGTATTCCAATCACAGCCCC -3'

Sequencing Primer
(F):5'- CTGGCAGCATGAGGTGG -3'
(R):5'- ATCACAGCCCCCACCTTCTC -3'

Posted On

2021-11-19