Mutagenetix > Incidental Mutations

Incidental Mutation 'R7359:Des'

571155

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75360329-75368579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75360952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 179 (R179C)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027409]

AlphaFold

P31001

Predicted Effect

probably damaging
Transcript: ENSMUST00000027409
AA Change: R179C

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

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: R179C

Domain	Start	End	E-Value	Type
Pfam:Filament_head	9	105	1.3e-25	PFAM
Filament	106	414	7.41e-148	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,189,574	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,671,682	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,667,112	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,280,282	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,449,378	I192L	possibly damaging	Het
B4galnt4	A	G	7: 141,071,284	H926R	probably damaging	Het
BC067074	T	C	13: 113,342,430	S1503P		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc68	C	T	18: 69,956,052	A222V	probably benign	Het
Cdc23	T	C	18: 34,641,341	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,781,007	Y188H	unknown	Het
Cfap57	T	A	4: 118,598,965	T511S	probably benign	Het
Cftr	T	C	6: 18,221,624	V245A	probably benign	Het
Cit	A	G	5: 115,926,574	D505G	probably damaging	Het
Cmah	T	G	13: 24,468,556	N556K	probably benign	Het
D430041D05Rik	C	A	2: 104,214,137	D839Y	probably damaging	Het
Dek	T	C	13: 47,105,589	D47G	unknown	Het
Desi2	A	G	1: 178,187,943	N10D	probably benign	Het
Dlg5	T	C	14: 24,164,547	N679S	probably damaging	Het
Dnajc24	T	C	2: 106,001,948	Y30C	probably damaging	Het
Dock10	T	A	1: 80,709,348	H34L	probably benign	Het
Dock5	A	G	14: 67,765,888	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125	V576A	probably benign	Het
Dusp6	A	G	10: 99,264,065	E125G	probably benign	Het
Dync1h1	T	C	12: 110,624,602	Y1035H	probably benign	Het
Dysf	G	A	6: 84,195,324		probably null	Het
En1	A	G	1: 120,607,088	K369E	unknown	Het
F2r	A	G	13: 95,604,686	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,699,222	Y97C	probably damaging	Het
Fggy	T	C	4: 95,769,480	V286A	probably benign	Het
Flot2	T	C	11: 78,058,557	I322T	probably benign	Het
Fndc1	A	T	17: 7,813,486		probably null	Het
Frs3	A	G	17: 47,699,525	D28G	probably damaging	Het
Gimap3	C	T	6: 48,765,346	D217N	probably benign	Het
Gm128	A	G	3: 95,240,623	V120A	probably benign	Het
Gm14548	T	A	7: 3,898,104		probably benign	Het
Gm17190	T	C	13: 96,082,462	V102A	probably damaging	Het
Gm17268	A	G	11: 82,028,231	V20A	unknown	Het
Grsf1	A	T	5: 88,665,564		probably null	Het
Hmcn2	A	T	2: 31,388,383	Y1699F	probably benign	Het
Hnmt	T	A	2: 24,048,719	M36L	probably benign	Het
Hoxd1	C	A	2: 74,764,103	T234K	probably damaging	Het
Hydin	C	G	8: 110,506,101	S1679R	probably damaging	Het
Jag1	T	C	2: 137,084,306	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,028,858	W486R	probably damaging	Het
Kcnh6	A	G	11: 106,018,963	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,841,299	F276V	probably benign	Het
Lrp6	G	T	6: 134,450,960	Y1556*	probably null	Het
Mpdz	G	A	4: 81,356,395	L855F	probably benign	Het
Muc16	A	T	9: 18,643,020	D3992E	unknown	Het
Npc1	T	C	18: 12,195,180	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,494,359	T18A	probably benign	Het
Olfr1120	T	A	2: 87,358,211	L256I	possibly damaging	Het
Olfr130	G	A	17: 38,067,615	W148*	probably null	Het
Olfr358	A	T	2: 37,005,437	M59K	probably damaging	Het
Olfr949-ps1	T	C	9: 39,365,479	*307R	probably null	Het
Pcdh15	A	T	10: 74,584,216	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,884,331	K51E	probably damaging	Het
Pde1b	G	A	15: 103,521,325	D82N	probably damaging	Het
Phf23	T	A	11: 69,998,641	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,967,894	V1006A	unknown	Het
Pkhd1l1	G	T	15: 44,589,486	V3936F	probably damaging	Het
Pnpla1	T	C	17: 28,881,185	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppl	A	G	16: 5,089,341	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,321,275		probably benign	Het
Racgap1	C	T	15: 99,631,200	S264N	probably benign	Het
Rdh13	T	C	7: 4,427,697	D289G	probably benign	Het
Rtp3	T	C	9: 110,986,296	I334V	probably benign	Het
Setd2	A	T	9: 110,562,944	D200V		Het
Simc1	A	G	13: 54,503,918	S15G	unknown	Het
Sirpb1c	A	T	3: 15,833,225	M150K	probably benign	Het
Smoc1	T	A	12: 81,150,701	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,712,490	Y59C	probably damaging	Het
Stard9	A	G	2: 120,698,280	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,916,108	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,075,533	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376	N720S	probably null	Het
Vmn1r11	T	C	6: 57,138,199	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,405,095	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,367,539	M836K	probably benign	Het
Vmn2r61	A	C	7: 42,265,983	H118P	probably benign	Het
Vps33a	A	G	5: 123,558,633	I319T	probably benign	Het
Vwf	T	A	6: 125,566,257	S151T		Het
Zfp423	T	C	8: 87,782,243	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,808,235	F23S	probably damaging	Het

Other mutations in Des

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Des	APN	1	75362583	missense	probably benign	0.02
IGL02416:Des	APN	1	75362728	critical splice donor site	probably null
IGL02953:Des	APN	1	75363644	missense	possibly damaging	0.95
IGL03156:Des	APN	1	75362996	missense	probably damaging	1.00
IGL03288:Des	APN	1	75362341	missense	possibly damaging	0.79
R0032:Des	UTSW	1	75362166	missense	possibly damaging	0.87
R0849:Des	UTSW	1	75360628	missense	probably benign
R0885:Des	UTSW	1	75360730	missense	probably damaging	1.00
R1271:Des	UTSW	1	75360646	missense	probably benign	0.01
R1452:Des	UTSW	1	75363477	missense	probably damaging	1.00
R1559:Des	UTSW	1	75360586	missense	probably benign	0.11
R1929:Des	UTSW	1	75363493	missense	probably damaging	0.99
R2144:Des	UTSW	1	75366804	missense	probably benign	0.45
R2145:Des	UTSW	1	75363464	splice site	probably benign
R2271:Des	UTSW	1	75363493	missense	probably damaging	0.99
R4182:Des	UTSW	1	75362584	missense	probably benign	0.00
R4184:Des	UTSW	1	75362584	missense	probably benign	0.00
R4383:Des	UTSW	1	75360769	missense	possibly damaging	0.94
R5268:Des	UTSW	1	75362928	missense	possibly damaging	0.50
R5787:Des	UTSW	1	75363646	missense	probably damaging	0.98
R5974:Des	UTSW	1	75362984	missense	probably benign	0.10
R6044:Des	UTSW	1	75363469	critical splice acceptor site	probably null
R6985:Des	UTSW	1	75366787	missense	possibly damaging	0.80
R7467:Des	UTSW	1	75362961	missense	possibly damaging	0.48
R7798:Des	UTSW	1	75362359	missense	probably damaging	0.96
R8878:Des	UTSW	1	75360493	missense	unknown
R8957:Des	UTSW	1	75363651	missense	probably damaging	1.00
R9245:Des	UTSW	1	75366762	missense	probably benign	0.17
R9258:Des	UTSW	1	75363645	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CTGCAAGAGCTCAATGACCG -3'
(R):5'- TCCAGTGTTACATAGAAGGGGC -3'

Sequencing Primer
(F):5'- TTCGCCAACTACATCGAGAAGGTG -3'
(R):5'- GGCCAGGAAAGATCTCTACTTAGC -3'

Posted On

2019-09-13