Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Myom3'

294984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myom3

Ensembl Gene

ENSMUSG00000037139

Gene Name

myomesin family, member 3

Synonyms

8430427K15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

135759715-135815564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135779368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 484 (L484Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105854]

AlphaFold

A2ABU4

Predicted Effect

probably benign
Transcript: ENSMUST00000105854
AA Change: L484Q

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: L484Q

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
low complexity region	53	83	N/A	INTRINSIC
coiled coil region	119	150	N/A	INTRINSIC
IG	160	248	7.64e-9	SMART
IG	277	364	1.37e-1	SMART
FN3	374	457	4.8e-13	SMART
FN3	502	585	9.99e-11	SMART
FN3	603	684	1.74e-10	SMART
FN3	702	785	2.5e-11	SMART
FN3	804	887	7.73e-17	SMART
Blast:IG_like	904	1098	1e-100	BLAST
PDB:2JTD\|A	1000	1105	4e-25	PDB
low complexity region	1107	1119	N/A	INTRINSIC
IG	1127	1209	4.46e-1	SMART
IGc2	1349	1416	1.4e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in Myom3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Myom3	APN	4	135762571	missense	possibly damaging	0.66
IGL01490:Myom3	APN	4	135810778	missense	possibly damaging	0.79
IGL01931:Myom3	APN	4	135789639	missense	probably benign	0.05
IGL01935:Myom3	APN	4	135788381	missense	probably damaging	1.00
IGL01939:Myom3	APN	4	135765589	missense	possibly damaging	0.95
IGL01981:Myom3	APN	4	135785849	nonsense	probably null
IGL01985:Myom3	APN	4	135765702	critical splice donor site	probably null
IGL02043:Myom3	APN	4	135770675	missense	probably damaging	1.00
IGL02733:Myom3	APN	4	135814303	nonsense	probably null
IGL03253:Myom3	APN	4	135783097	missense	possibly damaging	0.85
BB008:Myom3	UTSW	4	135789636	missense	probably benign
BB018:Myom3	UTSW	4	135789636	missense	probably benign
R0359:Myom3	UTSW	4	135778143	missense	probably damaging	1.00
R0525:Myom3	UTSW	4	135764926	missense	possibly damaging	0.69
R0665:Myom3	UTSW	4	135764926	missense	possibly damaging	0.69
R0668:Myom3	UTSW	4	135764926	missense	possibly damaging	0.69
R0690:Myom3	UTSW	4	135788426	splice site	probably benign
R1235:Myom3	UTSW	4	135789543	missense	probably benign	0.09
R1692:Myom3	UTSW	4	135775551	missense	probably benign	0.00
R1793:Myom3	UTSW	4	135810755	missense	probably benign	0.42
R1859:Myom3	UTSW	4	135779396	missense	probably benign	0.01
R1863:Myom3	UTSW	4	135778037	missense	probably benign
R1876:Myom3	UTSW	4	135779400	missense	probably benign	0.01
R2103:Myom3	UTSW	4	135776412	missense	probably benign	0.05
R2152:Myom3	UTSW	4	135803233	missense	probably benign	0.05
R4633:Myom3	UTSW	4	135775699	missense	probably benign	0.00
R4726:Myom3	UTSW	4	135807275	splice site	probably null
R4884:Myom3	UTSW	4	135783055	missense	possibly damaging	0.90
R4943:Myom3	UTSW	4	135814274	missense	possibly damaging	0.73
R5040:Myom3	UTSW	4	135789659	missense	probably damaging	1.00
R5151:Myom3	UTSW	4	135789572	missense	probably benign	0.01
R5158:Myom3	UTSW	4	135765586	missense	probably damaging	0.99
R5169:Myom3	UTSW	4	135775578	missense	probably benign	0.01
R5239:Myom3	UTSW	4	135800992	splice site	probably benign
R6130:Myom3	UTSW	4	135762571	missense	probably benign
R6253:Myom3	UTSW	4	135785892	missense	probably benign	0.07
R6253:Myom3	UTSW	4	135801003	missense	probably benign	0.00
R6331:Myom3	UTSW	4	135776377	missense	possibly damaging	0.46
R6346:Myom3	UTSW	4	135806051	missense	probably benign	0.00
R6502:Myom3	UTSW	4	135762513	start gained	probably benign
R6613:Myom3	UTSW	4	135812459	missense	possibly damaging	0.80
R6899:Myom3	UTSW	4	135803292	missense	probably damaging	1.00
R6969:Myom3	UTSW	4	135801060	missense	probably damaging	0.98
R7088:Myom3	UTSW	4	135803278	missense	probably damaging	1.00
R7159:Myom3	UTSW	4	135808851	missense	probably damaging	1.00
R7203:Myom3	UTSW	4	135795179	missense	possibly damaging	0.92
R7397:Myom3	UTSW	4	135783118	missense	probably damaging	0.98
R7453:Myom3	UTSW	4	135801035	missense	probably damaging	1.00
R7815:Myom3	UTSW	4	135801363	missense	possibly damaging	0.67
R7931:Myom3	UTSW	4	135789636	missense	probably benign
R7939:Myom3	UTSW	4	135807278	critical splice donor site	probably null
R8024:Myom3	UTSW	4	135801748	missense	probably benign	0.02
R8167:Myom3	UTSW	4	135807193	missense	possibly damaging	0.48
R8188:Myom3	UTSW	4	135779920	missense	probably damaging	1.00
R8709:Myom3	UTSW	4	135796296	missense	possibly damaging	0.81
R8745:Myom3	UTSW	4	135795198	critical splice donor site	probably null
R8890:Myom3	UTSW	4	135814254	missense	probably benign	0.30
R8922:Myom3	UTSW	4	135764911	missense	probably damaging	1.00
R8984:Myom3	UTSW	4	135787944	missense
R9090:Myom3	UTSW	4	135778168	missense	probably benign	0.00
R9178:Myom3	UTSW	4	135779399	missense	probably benign	0.00
R9235:Myom3	UTSW	4	135814342	missense	probably damaging	1.00
R9271:Myom3	UTSW	4	135778168	missense	probably benign	0.00
R9396:Myom3	UTSW	4	135785888	missense	probably benign	0.01
Z1176:Myom3	UTSW	4	135764820	missense	probably benign	0.00

Posted On

2015-04-16