Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Myom3'

305555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myom3

Ensembl Gene

ENSMUSG00000037139

Gene Name

myomesin family, member 3

Synonyms

8430427K15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

135759715-135815564 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 135814303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1402 (E1402*)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

probably null
Transcript: ENSMUST00000105854
AA Change: E1402*

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: E1402*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145304

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	probably benign	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
IGL02477:Myom3	APN	4	135779368	missense	probably benign	0.22
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