Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Des'

471585

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75336973-75345223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75339628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 329 (S329T)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

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

AlphaFold

P31001

Predicted Effect

probably benign
Transcript: ENSMUST00000027409
AA Change: S329T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: S329T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144894

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	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
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
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'- GCAGGGTGAATGTAGAGTCTCC -3'
(R):5'- CAGGGTGACACATCTGATTCC -3'

Sequencing Primer
(F):5'- GGTGAATGTAGAGTCTCCATACTCC -3'
(R):5'- GGGTGACACATCTGATTCCTTAGTAC -3'

Posted On

2017-03-31