Mutagenetix > Incidental Mutation

Incidental Mutation 'R8878:Des'

676666

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

068746-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R8878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75336973-75345223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75337137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 26 (L26M)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

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

AlphaFold

P31001

Predicted Effect

unknown
Transcript: ENSMUST00000027409
AA Change: L26M

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: L26M

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,324 (GRCm39)	H348Q	probably benign	Het
Ago1	T	A	4: 126,357,516 (GRCm39)	Y53F	probably benign	Het
Arrdc5	A	G	17: 56,601,342 (GRCm39)	L261P	probably benign	Het
Asb2	C	A	12: 103,290,138 (GRCm39)	W551L	possibly damaging	Het
Atl2	T	C	17: 80,160,232 (GRCm39)	I452V	probably benign	Het
Atxn7l3	T	C	11: 102,183,545 (GRCm39)	S203G	probably benign	Het
Bche	A	G	3: 73,608,506 (GRCm39)	F307L	probably benign	Het
C6	T	C	15: 4,826,454 (GRCm39)	V679A	probably benign	Het
Cd163	A	T	6: 124,297,469 (GRCm39)	N872Y	probably damaging	Het
Cdkal1	C	A	13: 29,658,607 (GRCm39)	V380F	probably damaging	Het
Ceacam11	A	T	7: 17,709,536 (GRCm39)	I245L	probably benign	Het
Ceacam16	G	T	7: 19,592,656 (GRCm39)	T84K	possibly damaging	Het
Ceacam2	T	A	7: 25,227,351 (GRCm39)	Q172L	probably benign	Het
Chga	T	G	12: 102,527,720 (GRCm39)	S125A	possibly damaging	Het
Col9a1	T	C	1: 24,236,048 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,380,547 (GRCm39)	A236S	probably benign	Het
Csmd1	A	G	8: 15,960,528 (GRCm39)	Y3296H	probably damaging	Het
Cyp2j8	C	A	4: 96,358,807 (GRCm39)	V371L	possibly damaging	Het
Edc3	A	G	9: 57,623,484 (GRCm39)	S140G	possibly damaging	Het
Fam161a	C	T	11: 22,970,092 (GRCm39)	T90I	probably benign	Het
Fancm	T	C	12: 65,173,522 (GRCm39)	Y1945H	probably damaging	Het
Fbn2	C	T	18: 58,257,318 (GRCm39)	V350I	probably benign	Het
Git2	A	G	5: 114,899,649 (GRCm39)	C235R	possibly damaging	Het
Gk2	T	C	5: 97,604,341 (GRCm39)	K166E	probably benign	Het
Gm12258	G	A	11: 58,750,112 (GRCm39)	R429H	unknown	Het
Gm7247	T	G	14: 51,666,210 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,414,932 (GRCm39)	Y59C	probably damaging	Het
Has1	G	T	17: 18,070,321 (GRCm39)	A200E	possibly damaging	Het
Hbs1l	T	C	10: 21,234,711 (GRCm39)	I588T	possibly damaging	Het
Helz2	A	G	2: 180,874,560 (GRCm39)	V1978A	possibly damaging	Het
Hoxb9	T	C	11: 96,165,557 (GRCm39)	Y209H	probably damaging	Het
Hps5	T	C	7: 46,421,345 (GRCm39)	D706G	probably benign	Het
Hydin	T	C	8: 111,035,720 (GRCm39)	V137A	probably benign	Het
Ifngr2	T	C	16: 91,359,847 (GRCm39)	I318T	probably benign	Het
Iqgap3	C	T	3: 88,020,532 (GRCm39)	T1290I	probably damaging	Het
Jrk	A	T	15: 74,578,988 (GRCm39)	V99E	probably benign	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kalrn	G	A	16: 34,018,830 (GRCm39)	P1311S	probably benign	Het
Kirrel3	A	G	9: 34,850,561 (GRCm39)		probably benign	Het
Klk1b9	T	C	7: 43,443,782 (GRCm39)	F99L	possibly damaging	Het
Lamb3	T	C	1: 193,013,124 (GRCm39)	C450R	probably damaging	Het
Lyst	T	A	13: 13,815,661 (GRCm39)	S1182T	probably benign	Het
Map1a	T	C	2: 121,138,125 (GRCm39)	V2933A	probably damaging	Het
Map2k5	A	T	9: 63,250,667 (GRCm39)		probably null	Het
Mcm6	A	G	1: 128,283,248 (GRCm39)		probably null	Het
Mmp17	G	A	5: 129,683,378 (GRCm39)	V505M	probably damaging	Het
Mpped2	A	G	2: 106,575,065 (GRCm39)	D50G	probably damaging	Het
Mtf1	T	A	4: 124,715,023 (GRCm39)	L216*	probably null	Het
Niban2	A	T	2: 32,811,105 (GRCm39)	M372L	probably benign	Het
Obscn	T	C	11: 58,890,638 (GRCm39)	E7298G	unknown	Het
Or52ab7	A	T	7: 102,978,212 (GRCm39)	H173L	possibly damaging	Het
Or56a3	T	C	7: 104,735,763 (GRCm39)	L280P	probably damaging	Het
Or6c205	T	C	10: 129,086,883 (GRCm39)	L160P	probably benign	Het
Or7d9	A	G	9: 20,197,358 (GRCm39)	D129G	probably damaging	Het
Otulinl	T	A	15: 27,664,884 (GRCm39)	H24L	probably benign	Het
Pax2	G	A	19: 44,777,215 (GRCm39)		probably null	Het
Pcnt	T	A	10: 76,244,675 (GRCm39)	E1135V	probably damaging	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Polq	A	G	16: 36,860,869 (GRCm39)	N497S	probably benign	Het
Ppfia4	T	C	1: 134,227,122 (GRCm39)	T1138A		Het
Prickle4	A	G	17: 48,001,587 (GRCm39)	L32P		Het
Prl2c2	C	T	13: 13,171,896 (GRCm39)	G158R	probably damaging	Het
Psd3	A	G	8: 68,210,750 (GRCm39)	I752T	probably benign	Het
Sag	A	T	1: 87,756,158 (GRCm39)	Y255F	probably benign	Het
Scn7a	A	T	2: 66,506,199 (GRCm39)	D1563E	probably damaging	Het
Secisbp2	A	G	13: 51,837,404 (GRCm39)	N855S	probably benign	Het
Setd2	T	C	9: 110,421,467 (GRCm39)	V2011A	probably benign	Het
Slc30a6	T	C	17: 74,730,112 (GRCm39)	V334A	probably damaging	Het
Spen	A	G	4: 141,204,520 (GRCm39)	V1369A	unknown	Het
Stac2	T	C	11: 97,932,373 (GRCm39)	T207A	probably benign	Het
Syne2	T	C	12: 75,952,067 (GRCm39)	V445A	probably benign	Het
Tas2r131	C	A	6: 132,934,467 (GRCm39)	W114L	probably damaging	Het
Tgfbrap1	G	A	1: 43,088,959 (GRCm39)	R815*	probably null	Het
Trpv2	A	T	11: 62,481,112 (GRCm39)	I404L	probably benign	Het
Zfp236	G	A	18: 82,617,122 (GRCm39)	T1791M	probably damaging	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
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
R9258:Des	UTSW	1	75,340,289 (GRCm39)	missense	probably benign	0.21
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'- CTACAAATAGTGCAGACAGCTAAGG -3'
(R):5'- AACTCCTGGTTCACAGCGTC -3'

Sequencing Primer
(F):5'- TGCAGACAGCTAAGGGGCTC -3'
(R):5'- AGAAGTCCAGCAGCTCGC -3'

Posted On

2021-07-15