Mutagenetix > Incidental Mutation

Incidental Mutation 'R9258:Des'

701982

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R9258 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75336973-75345223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75340289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 399 (V399L)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

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

AlphaFold

P31001

Predicted Effect

probably benign
Transcript: ENSMUST00000027409
AA Change: V399L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: V399L

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: 99.8%
20x: 99.3%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	A	8: 124,709,347 (GRCm39)	Q69L	probably benign	Het
Abtb2	A	C	2: 103,546,410 (GRCm39)	Q930P	probably null	Het
Adam18	G	A	8: 25,158,574 (GRCm39)	T73I	probably benign	Het
Ankrd54	A	T	15: 78,946,996 (GRCm39)	M1K	probably null	Het
Anks1	T	C	17: 28,277,400 (GRCm39)	V1106A	probably damaging	Het
Aox1	A	T	1: 58,351,515 (GRCm39)	I701F	probably damaging	Het
Arfgef3	C	T	10: 18,465,387 (GRCm39)	R2152H	probably damaging	Het
Arnt2	C	T	7: 84,010,798 (GRCm39)	G37E	probably damaging	Het
Arpp21	G	A	9: 111,953,956 (GRCm39)	T581M	probably benign	Het
Arvcf	A	G	16: 18,216,957 (GRCm39)	N428S	probably damaging	Het
C2cd3	A	G	7: 100,098,026 (GRCm39)	E1471G		Het
Cadm1	A	G	9: 47,710,730 (GRCm39)	K211R	probably benign	Het
Cdh6	A	G	15: 13,064,462 (GRCm39)	S143P	probably damaging	Het
Cep152	G	A	2: 125,421,356 (GRCm39)	Q1125*	probably null	Het
Cfap54	A	C	10: 92,770,960 (GRCm39)	S2095A	unknown	Het
Col12a1	T	C	9: 79,613,645 (GRCm39)	T67A	probably benign	Het
Col6a3	T	C	1: 90,700,703 (GRCm39)	N3216S	unknown	Het
Cpeb2	T	A	5: 43,391,455 (GRCm39)	L217Q		Het
Ctbp2	A	T	7: 132,597,021 (GRCm39)	N119K	probably damaging	Het
Dnah2	G	T	11: 69,368,079 (GRCm39)	H1753Q	probably damaging	Het
Dnajc6	T	C	4: 101,475,813 (GRCm39)	V562A	probably benign	Het
Dusp13b	T	C	14: 21,791,155 (GRCm39)	D99G	probably benign	Het
Ehd3	A	G	17: 74,127,561 (GRCm39)	I165V	probably benign	Het
Eme2	C	T	17: 25,112,053 (GRCm39)	V241M	probably damaging	Het
Eml5	A	G	12: 98,810,376 (GRCm39)	L860P	possibly damaging	Het
Eogt	T	A	6: 97,089,043 (GRCm39)	K521M	possibly damaging	Het
Epb41l5	T	C	1: 119,506,701 (GRCm39)	T489A	probably benign	Het
Fmo5	G	T	3: 97,558,802 (GRCm39)	V421L	probably benign	Het
Gabpa	C	T	16: 84,653,403 (GRCm39)	P268S	probably benign	Het
Gas2l3	G	T	10: 89,262,315 (GRCm39)	H136N	probably benign	Het
Gm5592	C	T	7: 40,938,407 (GRCm39)	A563V	possibly damaging	Het
Gpn3	A	T	5: 122,519,508 (GRCm39)	D205V	probably benign	Het
H13	T	C	2: 152,522,999 (GRCm39)	L104S	probably damaging	Het
H2-Q4	T	A	17: 35,599,105 (GRCm39)	V125E	probably benign	Het
Ifih1	A	G	2: 62,442,242 (GRCm39)	F374S	probably damaging	Het
Ildr2	A	G	1: 166,131,158 (GRCm39)	D338G	probably damaging	Het
Kmt2b	A	T	7: 30,281,893 (GRCm39)	N1162K	probably null	Het
Lmntd1	T	C	6: 145,359,256 (GRCm39)	D298G	probably damaging	Het
Lrrc32	T	A	7: 98,148,345 (GRCm39)	V375E	probably benign	Het
Lrrc37a	A	C	11: 103,393,022 (GRCm39)	I801R	probably benign	Het
Matcap1	A	G	8: 106,008,775 (GRCm39)	V414A	probably damaging	Het
Mgam	A	G	6: 40,657,121 (GRCm39)	E935G	probably benign	Het
Mms22l	A	T	4: 24,588,238 (GRCm39)	T917S	probably damaging	Het
Myo3a	A	T	2: 22,467,545 (GRCm39)	E1204D	possibly damaging	Het
Nav3	T	A	10: 109,550,243 (GRCm39)	E1829V	probably damaging	Het
Nccrp1	C	T	7: 28,245,632 (GRCm39)	G150D	probably damaging	Het
Nlrp4b	G	T	7: 10,444,087 (GRCm39)	W12L	probably damaging	Het
Nmb	T	C	7: 80,554,001 (GRCm39)	T71A	possibly damaging	Het
Ogfod2	T	A	5: 124,250,505 (GRCm39)	H35Q	probably benign	Het
Ola1	A	T	2: 72,929,732 (GRCm39)	S290R	probably damaging	Het
Or1e30	T	G	11: 73,678,281 (GRCm39)	N172K	probably benign	Het
Or4k47	A	T	2: 111,452,329 (GRCm39)	I30N	possibly damaging	Het
Or51v15-ps1	T	G	7: 103,278,543 (GRCm39)	Y208S	unknown	Het
Or52e2	C	A	7: 102,804,409 (GRCm39)	E182*	probably null	Het
Or5p68	T	G	7: 107,945,886 (GRCm39)	T101P	probably benign	Het
Or9i14	A	T	19: 13,792,099 (GRCm39)	L285*	probably null	Het
Pcsk9	T	C	4: 106,316,047 (GRCm39)	D132G	possibly damaging	Het
Pkhd1	A	T	1: 20,444,174 (GRCm39)	V2296E	probably damaging	Het
Prl2c5	A	T	13: 13,365,297 (GRCm39)	I151L	probably damaging	Het
Prl3d3	A	T	13: 27,344,931 (GRCm39)	D101V	possibly damaging	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Rasal1	A	T	5: 120,793,155 (GRCm39)	I87F	possibly damaging	Het
Rpgrip1l	A	T	8: 91,987,614 (GRCm39)	Y814*	probably null	Het
Rpl3l	T	G	17: 24,951,447 (GRCm39)		probably null	Het
Rrbp1	C	A	2: 143,853,161 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,364 (GRCm39)	S4158P	probably damaging	Het
Scube2	G	T	7: 109,398,515 (GRCm39)	S951Y	probably damaging	Het
Sec14l1	T	C	11: 117,041,002 (GRCm39)	V396A	probably benign	Het
Sh3gl1	T	A	17: 56,325,911 (GRCm39)	K173*	probably null	Het
Shank3	A	T	15: 89,388,521 (GRCm39)	E371V	probably damaging	Het
Slc25a24	A	G	3: 109,066,751 (GRCm39)	T302A	probably damaging	Het
Slc25a41	A	T	17: 57,348,580 (GRCm39)	H4Q	probably benign	Het
Slc45a1	A	T	4: 150,723,071 (GRCm39)	V271D	possibly damaging	Het
Smad6	A	T	9: 63,927,573 (GRCm39)	L245Q	probably damaging	Het
Smad7	C	A	18: 75,527,317 (GRCm39)	Q388K	probably damaging	Het
Snx29	G	T	16: 11,532,799 (GRCm39)	D348Y	possibly damaging	Het
Son	A	T	16: 91,474,570 (GRCm39)	H2418L	unknown	Het
Sppl3	G	A	5: 115,233,922 (GRCm39)	V331M	probably damaging	Het
St13	T	G	15: 81,272,569 (GRCm39)	T92P	probably benign	Het
St3gal4	A	G	9: 34,963,643 (GRCm39)	W222R	probably damaging	Het
Stk32a	T	A	18: 43,444,999 (GRCm39)	N264K	probably benign	Het
Stoml3	T	A	3: 53,405,397 (GRCm39)	I26N	possibly damaging	Het
Taf7	T	C	18: 37,776,021 (GRCm39)	E182G	probably damaging	Het
Tas2r138	A	G	6: 40,590,129 (GRCm39)	V39A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,823 (GRCm39)	S418G	possibly damaging	Het
Tbr1	T	A	2: 61,642,723 (GRCm39)	C663S	probably benign	Het
Tmc5	A	T	7: 118,222,501 (GRCm39)	Y67F	probably benign	Het
Tnfsf4	A	C	1: 161,244,814 (GRCm39)	I168L	probably benign	Het
Trav5-1	T	G	14: 52,860,347 (GRCm39)	S51A	probably benign	Het
Trmt10c	A	T	16: 55,854,646 (GRCm39)	C330S	possibly damaging	Het
Trpm1	T	C	7: 63,884,713 (GRCm39)	M798T	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Unc13d	CATGCC	CATGCCTCCGATGCC	11: 115,959,007 (GRCm39)		probably benign	Het
Vmn1r199	A	G	13: 22,566,822 (GRCm39)	T39A	possibly damaging	Het
Vmn1r74	T	A	7: 11,580,999 (GRCm39)	C100S	possibly damaging	Het
Vmn2r77	T	A	7: 86,452,302 (GRCm39)	I494K	possibly damaging	Het
Wdr17	G	A	8: 55,112,654 (GRCm39)	Q816*	probably null	Het

Other mutations in Des

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Des	APN	1	75,339,227 (GRCm39)	missense	probably benign	0.02
IGL02416:Des	APN	1	75,339,372 (GRCm39)	critical splice donor site	probably null
IGL02953:Des	APN	1	75,340,288 (GRCm39)	missense	possibly damaging	0.95
IGL03156:Des	APN	1	75,339,640 (GRCm39)	missense	probably damaging	1.00
IGL03288:Des	APN	1	75,338,985 (GRCm39)	missense	possibly damaging	0.79
R0032:Des	UTSW	1	75,338,810 (GRCm39)	missense	possibly damaging	0.87
R0849:Des	UTSW	1	75,337,272 (GRCm39)	missense	probably benign
R0885:Des	UTSW	1	75,337,374 (GRCm39)	missense	probably damaging	1.00
R1271:Des	UTSW	1	75,337,290 (GRCm39)	missense	probably benign	0.01
R1452:Des	UTSW	1	75,340,121 (GRCm39)	missense	probably damaging	1.00
R1559:Des	UTSW	1	75,337,230 (GRCm39)	missense	probably benign	0.11
R1929:Des	UTSW	1	75,340,137 (GRCm39)	missense	probably damaging	0.99
R2144:Des	UTSW	1	75,343,448 (GRCm39)	missense	probably benign	0.45
R2145:Des	UTSW	1	75,340,108 (GRCm39)	splice site	probably benign
R2271:Des	UTSW	1	75,340,137 (GRCm39)	missense	probably damaging	0.99
R4182:Des	UTSW	1	75,339,228 (GRCm39)	missense	probably benign	0.00
R4184:Des	UTSW	1	75,339,228 (GRCm39)	missense	probably benign	0.00
R4383:Des	UTSW	1	75,337,413 (GRCm39)	missense	possibly damaging	0.94
R5268:Des	UTSW	1	75,339,572 (GRCm39)	missense	possibly damaging	0.50
R5787:Des	UTSW	1	75,340,290 (GRCm39)	missense	probably damaging	0.98
R5974:Des	UTSW	1	75,339,628 (GRCm39)	missense	probably benign	0.10
R6044:Des	UTSW	1	75,340,113 (GRCm39)	critical splice acceptor site	probably null
R6985:Des	UTSW	1	75,343,431 (GRCm39)	missense	possibly damaging	0.80
R7359:Des	UTSW	1	75,337,596 (GRCm39)	missense	probably damaging	1.00
R7467:Des	UTSW	1	75,339,605 (GRCm39)	missense	possibly damaging	0.48
R7798:Des	UTSW	1	75,339,003 (GRCm39)	missense	probably damaging	0.96
R8878:Des	UTSW	1	75,337,137 (GRCm39)	missense	unknown
R8957:Des	UTSW	1	75,340,295 (GRCm39)	missense	probably damaging	1.00
R9245:Des	UTSW	1	75,343,406 (GRCm39)	missense	probably benign	0.17
R9507:Des	UTSW	1	75,343,434 (GRCm39)	missense	probably benign	0.02
R9707:Des	UTSW	1	75,337,533 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- ATCCCTTGCAGAACGACTCC -3'
(R):5'- ACATTGTGCTTTACCCAAGTGG -3'

Sequencing Primer
(F):5'- TTGCAGAACGACTCCCTGATGAG -3'
(R):5'- AAGTGGCCCTCGTTAATTTTCTG -3'

Posted On

2022-03-25