Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Dsg1a'

187865

Institutional Source

Beutler Lab

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20464561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 352 (R352Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

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

AlphaFold

Q61495

Predicted Effect

probably damaging
Transcript: ENSMUST00000077146
AA Change: R352Q

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

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: R352Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,725,161 (GRCm39)		probably null	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,877,093 (GRCm39)		probably null	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,133,491 (GRCm39)	V650D	probably benign	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,073,919 (GRCm39)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp408	G	A	2: 91,476,353 (GRCm39)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	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
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
R4644:Dsg1a	UTSW	18	20,473,785 (GRCm39)	missense	probably benign	0.04
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'- CCAACAAGTAACACTGGACTGGGTAAG -3'
(R):5'- ACCTAACATTTGTGGAAGCTCGACC -3'

Sequencing Primer
(F):5'- AGCAAGTGGATTTGTGTTCAACC -3'
(R):5'- TGGAAGCTCGACCTGTGTC -3'

Posted On

2014-05-09