Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Dsc3'

37806

Institutional Source

Beutler Lab

Gene Symbol

Dsc3

Ensembl Gene

ENSMUSG00000059898

Gene Name

desmocollin 3

Synonyms

5430426I24Rik

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20093987-20135408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20114298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 319 (Y319H)

Ref Sequence

ENSEMBL: ENSMUSP00000153261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115848] [ENSMUST00000225110]

AlphaFold

P55850

Predicted Effect

probably damaging
Transcript: ENSMUST00000115848
AA Change: Y319H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111514
Gene: ENSMUSG00000059898
AA Change: Y319H

Domain	Start	End	E-Value	Type
Cadherin_pro	31	113	9.08e-41	SMART
CA	156	241	4.99e-11	SMART
CA	265	353	7.79e-22	SMART
CA	376	471	2.66e-6	SMART
CA	494	576	4.58e-19	SMART
CA	595	677	3.02e-2	SMART
transmembrane domain	692	714	N/A	INTRINSIC
Pfam:Cadherin_C	778	895	1.1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225110
AA Change: Y319H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3894

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	probably benign	Het

Other mutations in Dsc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dsc3	APN	18	20,118,688 (GRCm39)	missense	probably null	1.00
IGL01978:Dsc3	APN	18	20,107,253 (GRCm39)	missense	possibly damaging	0.79
IGL02101:Dsc3	APN	18	20,134,963 (GRCm39)	missense	probably benign	0.01
IGL02165:Dsc3	APN	18	20,116,709 (GRCm39)	missense	probably benign	0.06
IGL02543:Dsc3	APN	18	20,098,885 (GRCm39)	missense	probably benign	0.11
IGL02970:Dsc3	APN	18	20,101,317 (GRCm39)	missense	probably damaging	1.00
IGL03097:Dsc3	UTSW	18	20,107,105 (GRCm39)	missense	probably benign	0.30
R0133:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	probably damaging	0.96
R0360:Dsc3	UTSW	18	20,104,639 (GRCm39)	missense	possibly damaging	0.79
R0673:Dsc3	UTSW	18	20,122,647 (GRCm39)	missense	probably damaging	1.00
R0826:Dsc3	UTSW	18	20,114,229 (GRCm39)	missense	probably damaging	0.99
R1120:Dsc3	UTSW	18	20,120,034 (GRCm39)	missense	probably benign	0.05
R1491:Dsc3	UTSW	18	20,120,091 (GRCm39)	missense	probably damaging	0.99
R1667:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R1688:Dsc3	UTSW	18	20,099,284 (GRCm39)	missense	probably damaging	1.00
R1792:Dsc3	UTSW	18	20,120,055 (GRCm39)	missense	probably damaging	1.00
R1858:Dsc3	UTSW	18	20,098,773 (GRCm39)	missense	probably damaging	0.97
R1965:Dsc3	UTSW	18	20,113,729 (GRCm39)	missense	probably damaging	1.00
R1988:Dsc3	UTSW	18	20,098,903 (GRCm39)	missense	possibly damaging	0.86
R2049:Dsc3	UTSW	18	20,122,737 (GRCm39)	missense	possibly damaging	0.65
R2127:Dsc3	UTSW	18	20,101,411 (GRCm39)	missense	probably benign	0.00
R2143:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2144:Dsc3	UTSW	18	20,113,743 (GRCm39)	missense	possibly damaging	0.81
R2148:Dsc3	UTSW	18	20,098,695 (GRCm39)	missense	probably damaging	0.99
R3038:Dsc3	UTSW	18	20,124,617 (GRCm39)	missense	possibly damaging	0.58
R3872:Dsc3	UTSW	18	20,104,565 (GRCm39)	missense	probably damaging	0.99
R4229:Dsc3	UTSW	18	20,098,878 (GRCm39)	missense	probably damaging	1.00
R4298:Dsc3	UTSW	18	20,113,811 (GRCm39)	missense	possibly damaging	0.62
R4491:Dsc3	UTSW	18	20,134,922 (GRCm39)	missense	probably benign	0.30
R4590:Dsc3	UTSW	18	20,122,752 (GRCm39)	missense	probably damaging	1.00
R4615:Dsc3	UTSW	18	20,104,545 (GRCm39)	missense	possibly damaging	0.67
R5316:Dsc3	UTSW	18	20,096,598 (GRCm39)	missense	possibly damaging	0.67
R5758:Dsc3	UTSW	18	20,122,591 (GRCm39)	missense	probably damaging	1.00
R5796:Dsc3	UTSW	18	20,104,558 (GRCm39)	missense	probably benign	0.01
R5916:Dsc3	UTSW	18	20,120,077 (GRCm39)	missense	probably damaging	1.00
R6022:Dsc3	UTSW	18	20,099,395 (GRCm39)	missense	probably damaging	0.97
R6233:Dsc3	UTSW	18	20,098,852 (GRCm39)	missense	possibly damaging	0.77
R6351:Dsc3	UTSW	18	20,099,348 (GRCm39)	missense	probably benign	0.05
R6971:Dsc3	UTSW	18	20,099,275 (GRCm39)	critical splice donor site	probably null
R7261:Dsc3	UTSW	18	20,113,814 (GRCm39)	nonsense	probably null
R7442:Dsc3	UTSW	18	20,114,213 (GRCm39)	missense	probably damaging	1.00
R7795:Dsc3	UTSW	18	20,099,288 (GRCm39)	missense	probably damaging	1.00
R8051:Dsc3	UTSW	18	20,114,270 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,114,274 (GRCm39)	missense	probably damaging	1.00
R8531:Dsc3	UTSW	18	20,101,449 (GRCm39)	missense	probably benign
R8872:Dsc3	UTSW	18	20,122,679 (GRCm39)	missense	probably benign	0.02
R8927:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R8928:Dsc3	UTSW	18	20,107,234 (GRCm39)	missense	probably benign
R9140:Dsc3	UTSW	18	20,122,616 (GRCm39)	missense	probably benign	0.01
R9493:Dsc3	UTSW	18	20,122,752 (GRCm39)	nonsense	probably null
X0061:Dsc3	UTSW	18	20,122,684 (GRCm39)	missense	probably damaging	1.00
Z1177:Dsc3	UTSW	18	20,099,372 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATGCCTCAAAGGATGGCAATACC -3'
(R):5'- TGCCTGGCTTACTCTAGACCAGTG -3'

Sequencing Primer
(F):5'- GGATGGCAATACCTTTTTAAGCCC -3'
(R):5'- gggagtaaacaacaacatgatgag -3'

Posted On

2013-05-23