Mutagenetix > Incidental Mutation

Incidental Mutation 'R4644:Dsg1a'

351793

Institutional Source

Beutler Lab

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

MMRRC Submission

041905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20473785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 953 (I953L)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077146]

AlphaFold

Q61495

Predicted Effect

probably benign
Transcript: ENSMUST00000077146
AA Change: I953L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: I953L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.45e-14	SMART
CA	179	267	3.11e-21	SMART
CA	290	384	6.29e-8	SMART
CA	407	485	6.44e-1	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	590	598	N/A	INTRINSIC
Pfam:Cadherin_C	659	781	1.6e-10	PFAM
low complexity region	786	799	N/A	INTRINSIC
internal_repeat_1	823	888	9.56e-6	PROSPERO
internal_repeat_1	908	975	9.56e-6	PROSPERO
low complexity region	983	1004	N/A	INTRINSIC

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	G	1: 165,378,930 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,237,433 (GRCm39)	Y702*	probably null	Het
Bsph2	A	T	7: 13,304,942 (GRCm39)	V11E	possibly damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cflar	T	A	1: 58,770,426 (GRCm39)	I173N	probably damaging	Het
Dgkd	T	C	1: 87,864,016 (GRCm39)	V904A	probably damaging	Het
Dnajc21	T	C	15: 10,464,003 (GRCm39)	D54G	possibly damaging	Het
Doc2a	C	A	7: 126,450,618 (GRCm39)	T298K	probably benign	Het
Fga	C	A	3: 82,937,573 (GRCm39)	A150E	possibly damaging	Het
Frem3	T	A	8: 81,340,356 (GRCm39)	M883K	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Klhdc4	G	C	8: 122,548,739 (GRCm39)		probably benign	Het
Mgst1	T	C	6: 138,133,368 (GRCm39)	Y50H	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nsmaf	A	G	4: 6,419,940 (GRCm39)		probably benign	Het
Pp2d1	T	C	17: 53,823,015 (GRCm39)	K17R	probably benign	Het
Prss39	C	T	1: 34,541,207 (GRCm39)	T237M	probably damaging	Het
Ptpra	T	C	2: 130,386,078 (GRCm39)	I595T	probably damaging	Het
Ptpre	C	T	7: 135,253,661 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,807,416 (GRCm39)	C728*	probably null	Het
Scn11a	C	T	9: 119,644,269 (GRCm39)		probably null	Het
Scn1b	A	T	7: 30,817,212 (GRCm39)	L170*	probably null	Het
Semp2l2b	A	G	10: 21,942,660 (GRCm39)	V440A	probably benign	Het
Slc35f3	A	G	8: 127,047,809 (GRCm39)	R50G	possibly damaging	Het
Sorcs3	G	A	19: 48,672,036 (GRCm39)	V412M	probably damaging	Het
Spg11	C	T	2: 121,891,510 (GRCm39)	V1954I	probably benign	Het
Srcap	C	T	7: 127,151,770 (GRCm39)	R2049C	probably damaging	Het
Ssh2	T	C	11: 77,340,402 (GRCm39)	V518A	possibly damaging	Het
Stab1	G	A	14: 30,862,444 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,937,963 (GRCm39)	F1570S	probably benign	Het
Tpr	T	A	1: 150,299,250 (GRCm39)	V1076E	probably benign	Het
Ttn	A	T	2: 76,562,757 (GRCm39)	Y26986*	probably null	Het
Unc45a	C	T	7: 79,978,257 (GRCm39)	A673T	probably damaging	Het
Utp25	A	G	1: 192,810,788 (GRCm39)	Y72H	probably damaging	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Dsg1a	APN	18	20,473,263 (GRCm39)	missense	probably damaging	1.00
IGL01148:Dsg1a	APN	18	20,453,982 (GRCm39)	missense	probably damaging	0.97
IGL01534:Dsg1a	APN	18	20,474,053 (GRCm39)	missense	probably benign	0.06
IGL01566:Dsg1a	APN	18	20,469,840 (GRCm39)	splice site	probably benign
IGL01582:Dsg1a	APN	18	20,461,905 (GRCm39)	missense	probably null	1.00
IGL01913:Dsg1a	APN	18	20,455,293 (GRCm39)	missense	probably damaging	1.00
IGL01926:Dsg1a	APN	18	20,466,641 (GRCm39)	missense	possibly damaging	0.60
IGL02102:Dsg1a	APN	18	20,465,089 (GRCm39)	missense	probably benign	0.01
IGL02900:Dsg1a	APN	18	20,461,713 (GRCm39)	splice site	probably benign
IGL02937:Dsg1a	APN	18	20,464,591 (GRCm39)	missense	possibly damaging	0.93
IGL02962:Dsg1a	APN	18	20,473,381 (GRCm39)	missense	possibly damaging	0.92
IGL03003:Dsg1a	APN	18	20,469,876 (GRCm39)	missense	probably benign	0.43
PIT4687001:Dsg1a	UTSW	18	20,464,755 (GRCm39)	missense	probably benign	0.16
R0126:Dsg1a	UTSW	18	20,473,935 (GRCm39)	missense	probably benign	0.00
R0200:Dsg1a	UTSW	18	20,473,995 (GRCm39)	missense	probably benign	0.00
R0284:Dsg1a	UTSW	18	20,464,684 (GRCm39)	missense	probably damaging	0.98
R0394:Dsg1a	UTSW	18	20,466,807 (GRCm39)	missense	probably damaging	1.00
R0543:Dsg1a	UTSW	18	20,473,920 (GRCm39)	missense	probably damaging	1.00
R0656:Dsg1a	UTSW	18	20,468,949 (GRCm39)	splice site	probably benign
R0733:Dsg1a	UTSW	18	20,471,725 (GRCm39)	missense	probably damaging	0.97
R0750:Dsg1a	UTSW	18	20,473,210 (GRCm39)	missense	probably benign	0.10
R1300:Dsg1a	UTSW	18	20,465,206 (GRCm39)	missense	probably benign	0.19
R1501:Dsg1a	UTSW	18	20,465,076 (GRCm39)	missense	probably damaging	1.00
R1523:Dsg1a	UTSW	18	20,455,374 (GRCm39)	missense	probably damaging	0.99
R1673:Dsg1a	UTSW	18	20,464,561 (GRCm39)	missense	probably damaging	1.00
R1980:Dsg1a	UTSW	18	20,471,707 (GRCm39)	missense	probably damaging	1.00
R2102:Dsg1a	UTSW	18	20,466,830 (GRCm39)	missense	probably damaging	1.00
R2132:Dsg1a	UTSW	18	20,473,854 (GRCm39)	missense	probably damaging	1.00
R2299:Dsg1a	UTSW	18	20,473,207 (GRCm39)	missense	probably damaging	1.00
R2426:Dsg1a	UTSW	18	20,469,861 (GRCm39)	missense	probably damaging	0.96
R3031:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R4044:Dsg1a	UTSW	18	20,457,087 (GRCm39)	missense	probably damaging	1.00
R4075:Dsg1a	UTSW	18	20,473,127 (GRCm39)	missense	possibly damaging	0.53
R4661:Dsg1a	UTSW	18	20,473,590 (GRCm39)	missense	probably damaging	0.99
R4816:Dsg1a	UTSW	18	20,466,779 (GRCm39)	missense	probably benign	0.10
R5221:Dsg1a	UTSW	18	20,457,071 (GRCm39)	missense	possibly damaging	0.64
R5257:Dsg1a	UTSW	18	20,453,988 (GRCm39)	missense	probably damaging	1.00
R5360:Dsg1a	UTSW	18	20,474,011 (GRCm39)	missense	probably damaging	0.96
R5547:Dsg1a	UTSW	18	20,469,097 (GRCm39)	critical splice donor site	probably null
R5702:Dsg1a	UTSW	18	20,469,922 (GRCm39)	critical splice donor site	probably null
R5987:Dsg1a	UTSW	18	20,464,599 (GRCm39)	missense	probably damaging	1.00
R6108:Dsg1a	UTSW	18	20,473,304 (GRCm39)	missense	probably benign	0.19
R6170:Dsg1a	UTSW	18	20,469,043 (GRCm39)	missense	probably damaging	0.99
R7018:Dsg1a	UTSW	18	20,461,795 (GRCm39)	missense	possibly damaging	0.48
R7201:Dsg1a	UTSW	18	20,461,368 (GRCm39)	missense	probably damaging	0.98
R7730:Dsg1a	UTSW	18	20,464,768 (GRCm39)	missense	possibly damaging	0.77
R7814:Dsg1a	UTSW	18	20,471,572 (GRCm39)	splice site	probably null
R8185:Dsg1a	UTSW	18	20,473,669 (GRCm39)	missense	probably damaging	1.00
R8297:Dsg1a	UTSW	18	20,465,090 (GRCm39)	missense	probably benign	0.02
R8377:Dsg1a	UTSW	18	20,466,831 (GRCm39)	missense	probably damaging	1.00
R8409:Dsg1a	UTSW	18	20,473,208 (GRCm39)	missense	probably damaging	1.00
R8775:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8775-TAIL:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8818:Dsg1a	UTSW	18	20,473,599 (GRCm39)	missense	possibly damaging	0.87
R8821:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R8831:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R9030:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R9205:Dsg1a	UTSW	18	20,473,228 (GRCm39)	missense	probably damaging	1.00
R9239:Dsg1a	UTSW	18	20,473,750 (GRCm39)	missense	probably damaging	1.00
R9410:Dsg1a	UTSW	18	20,464,590 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CATCTCTGGTGCTGATTTGC -3'
(R):5'- TCCTCATGTGGCCAATAGTG -3'

Sequencing Primer
(F):5'- TGCATGGCATGTTAGAGATACCTGAC -3'
(R):5'- TGTTCAGCCCAGTGCCAGAAG -3'

Posted On

2015-10-08