Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Des'

161039

Institutional Source

Beutler Lab

Gene Symbol

Des

Ensembl Gene

ENSMUSG00000026208

Gene Name

desmin

Synonyms

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75336973-75345223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75340121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 343 (S343P)

Ref Sequence

ENSEMBL: ENSMUSP00000027409 (fasta)

Gene Model

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

AlphaFold

P31001

Predicted Effect

probably damaging
Transcript: ENSMUST00000027409
AA Change: S343P

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

SMART Domains

Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: S343P

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: ENSMUST00000130095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152799

Meta Mutation Damage Score

0.7210

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,168,360 (GRCm39)		probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cdk14	T	C	5: 4,938,927 (GRCm39)	S404G	possibly damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Endov	A	G	11: 119,382,651 (GRCm39)	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Or8k3	T	A	2: 86,058,799 (GRCm39)	N172I	probably damaging	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,707,144 (GRCm39)	D14E	probably null	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	probably benign	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
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
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'- GACACTTTGAGCCCAGTACAGACC -3'
(R):5'- AGGCCATCTTCACATTGAGCAGG -3'

Sequencing Primer
(F):5'- CTAAGGAATCAGATGTGTCACCCTG -3'
(R):5'- CATTGAGCAGGTCCTGGTACTC -3'

Posted On

2014-03-14