Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Des'

682071

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R8957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75336973-75345223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75340295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 401 (I401F)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

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

AlphaFold

P31001

Predicted Effect

probably damaging
Transcript: ENSMUST00000027409
AA Change: I401F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: I401F

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: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	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
R8878:Des	UTSW	1	75,337,137 (GRCm39)	missense	unknown
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'- CTAGACATGCTCTGAGCCTACC -3'
(R):5'- ATGGGCAGAATGGTAGCCTC -3'

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

Posted On

2021-08-31