Mutagenetix > Incidental Mutation

Incidental Mutation 'R1235:Myom3'

152403

Institutional Source

Beutler Lab

Gene Symbol

Myom3

Ensembl Gene

ENSMUSG00000037139

Gene Name

myomesin family, member 3

Synonyms

8430427K15Rik

MMRRC Submission

039303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135487026-135542875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135516854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 808 (Y808F)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

probably benign
Transcript: ENSMUST00000105854
AA Change: Y808F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: Y808F

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsg	T	C	11: 109,424,933 (GRCm39)		probably null	Het
Col6a1	C	A	10: 76,548,158 (GRCm39)	A633S	unknown	Het
Dnajb3	C	T	1: 88,133,201 (GRCm39)	R67H	probably benign	Het
Fam53c	T	A	18: 34,901,311 (GRCm39)	L76Q	probably damaging	Het
Gys2	A	T	6: 142,376,019 (GRCm39)	Y548N	probably damaging	Het
Kcnh3	T	A	15: 99,139,984 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,354,380 (GRCm39)	V483I	probably damaging	Het
Nmur1	C	T	1: 86,314,415 (GRCm39)	G307S	probably damaging	Het
Or8w1	T	G	2: 87,465,159 (GRCm39)		probably null	Het
Pcdhb13	T	C	18: 37,578,012 (GRCm39)	*797Q	probably null	Het
Plcb4	G	A	2: 135,814,868 (GRCm39)	G719R	probably damaging	Het
Pld1	A	T	3: 28,082,883 (GRCm39)	T143S	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sema5a	A	T	15: 32,609,372 (GRCm39)	Y426F	probably benign	Het
Trpc7	G	T	13: 57,035,352 (GRCm39)	H194N	probably damaging	Het
Vmn2r106	A	T	17: 20,499,741 (GRCm39)	F165I	probably benign	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zp2	A	T	7: 119,737,566 (GRCm39)	F240I	possibly damaging	Het

Other mutations in Myom3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Myom3	APN	4	135,489,882 (GRCm39)	missense	possibly damaging	0.66
IGL01490:Myom3	APN	4	135,538,089 (GRCm39)	missense	possibly damaging	0.79
IGL01931:Myom3	APN	4	135,516,950 (GRCm39)	missense	probably benign	0.05
IGL01935:Myom3	APN	4	135,515,692 (GRCm39)	missense	probably damaging	1.00
IGL01939:Myom3	APN	4	135,492,900 (GRCm39)	missense	possibly damaging	0.95
IGL01981:Myom3	APN	4	135,513,160 (GRCm39)	nonsense	probably null
IGL01985:Myom3	APN	4	135,493,013 (GRCm39)	critical splice donor site	probably null
IGL02043:Myom3	APN	4	135,497,986 (GRCm39)	missense	probably damaging	1.00
IGL02477:Myom3	APN	4	135,506,679 (GRCm39)	missense	probably benign	0.22
IGL02733:Myom3	APN	4	135,541,614 (GRCm39)	nonsense	probably null
IGL03253:Myom3	APN	4	135,510,408 (GRCm39)	missense	possibly damaging	0.85
BB008:Myom3	UTSW	4	135,516,947 (GRCm39)	missense	probably benign
BB018:Myom3	UTSW	4	135,516,947 (GRCm39)	missense	probably benign
R0359:Myom3	UTSW	4	135,505,454 (GRCm39)	missense	probably damaging	1.00
R0525:Myom3	UTSW	4	135,492,237 (GRCm39)	missense	possibly damaging	0.69
R0665:Myom3	UTSW	4	135,492,237 (GRCm39)	missense	possibly damaging	0.69
R0668:Myom3	UTSW	4	135,492,237 (GRCm39)	missense	possibly damaging	0.69
R0690:Myom3	UTSW	4	135,515,737 (GRCm39)	splice site	probably benign
R1692:Myom3	UTSW	4	135,502,862 (GRCm39)	missense	probably benign	0.00
R1793:Myom3	UTSW	4	135,538,066 (GRCm39)	missense	probably benign	0.42
R1859:Myom3	UTSW	4	135,506,707 (GRCm39)	missense	probably benign	0.01
R1863:Myom3	UTSW	4	135,505,348 (GRCm39)	missense	probably benign
R1876:Myom3	UTSW	4	135,506,711 (GRCm39)	missense	probably benign	0.01
R2103:Myom3	UTSW	4	135,503,723 (GRCm39)	missense	probably benign	0.05
R2152:Myom3	UTSW	4	135,530,544 (GRCm39)	missense	probably benign	0.05
R4633:Myom3	UTSW	4	135,503,010 (GRCm39)	missense	probably benign	0.00
R4726:Myom3	UTSW	4	135,534,586 (GRCm39)	splice site	probably null
R4884:Myom3	UTSW	4	135,510,366 (GRCm39)	missense	possibly damaging	0.90
R4943:Myom3	UTSW	4	135,541,585 (GRCm39)	missense	possibly damaging	0.73
R5040:Myom3	UTSW	4	135,516,970 (GRCm39)	missense	probably damaging	1.00
R5151:Myom3	UTSW	4	135,516,883 (GRCm39)	missense	probably benign	0.01
R5158:Myom3	UTSW	4	135,492,897 (GRCm39)	missense	probably damaging	0.99
R5169:Myom3	UTSW	4	135,502,889 (GRCm39)	missense	probably benign	0.01
R5239:Myom3	UTSW	4	135,528,303 (GRCm39)	splice site	probably benign
R6130:Myom3	UTSW	4	135,489,882 (GRCm39)	missense	probably benign
R6253:Myom3	UTSW	4	135,528,314 (GRCm39)	missense	probably benign	0.00
R6253:Myom3	UTSW	4	135,513,203 (GRCm39)	missense	probably benign	0.07
R6331:Myom3	UTSW	4	135,503,688 (GRCm39)	missense	possibly damaging	0.46
R6346:Myom3	UTSW	4	135,533,362 (GRCm39)	missense	probably benign	0.00
R6502:Myom3	UTSW	4	135,489,824 (GRCm39)	start gained	probably benign
R6613:Myom3	UTSW	4	135,539,770 (GRCm39)	missense	possibly damaging	0.80
R6899:Myom3	UTSW	4	135,530,603 (GRCm39)	missense	probably damaging	1.00
R6969:Myom3	UTSW	4	135,528,371 (GRCm39)	missense	probably damaging	0.98
R7088:Myom3	UTSW	4	135,530,589 (GRCm39)	missense	probably damaging	1.00
R7159:Myom3	UTSW	4	135,536,162 (GRCm39)	missense	probably damaging	1.00
R7203:Myom3	UTSW	4	135,522,490 (GRCm39)	missense	possibly damaging	0.92
R7397:Myom3	UTSW	4	135,510,429 (GRCm39)	missense	probably damaging	0.98
R7453:Myom3	UTSW	4	135,528,346 (GRCm39)	missense	probably damaging	1.00
R7815:Myom3	UTSW	4	135,528,674 (GRCm39)	missense	possibly damaging	0.67
R7931:Myom3	UTSW	4	135,516,947 (GRCm39)	missense	probably benign
R7939:Myom3	UTSW	4	135,534,589 (GRCm39)	critical splice donor site	probably null
R8024:Myom3	UTSW	4	135,529,059 (GRCm39)	missense	probably benign	0.02
R8167:Myom3	UTSW	4	135,534,504 (GRCm39)	missense	possibly damaging	0.48
R8188:Myom3	UTSW	4	135,507,231 (GRCm39)	missense	probably damaging	1.00
R8709:Myom3	UTSW	4	135,523,607 (GRCm39)	missense	possibly damaging	0.81
R8745:Myom3	UTSW	4	135,522,509 (GRCm39)	critical splice donor site	probably null
R8890:Myom3	UTSW	4	135,541,565 (GRCm39)	missense	probably benign	0.30
R8922:Myom3	UTSW	4	135,492,222 (GRCm39)	missense	probably damaging	1.00
R8984:Myom3	UTSW	4	135,515,255 (GRCm39)	missense
R9090:Myom3	UTSW	4	135,505,479 (GRCm39)	missense	probably benign	0.00
R9178:Myom3	UTSW	4	135,506,710 (GRCm39)	missense	probably benign	0.00
R9235:Myom3	UTSW	4	135,541,653 (GRCm39)	missense	probably damaging	1.00
R9271:Myom3	UTSW	4	135,505,479 (GRCm39)	missense	probably benign	0.00
R9396:Myom3	UTSW	4	135,513,199 (GRCm39)	missense	probably benign	0.01
Z1176:Myom3	UTSW	4	135,492,131 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACAATCTGCCCAGCTTGTACAC -3'
(R):5'- CTGAGAACGGTTTATGTTTGCCTGC -3'

Sequencing Primer
(F):5'- CACTGACTgctgagctgg -3'
(R):5'- GCTTCTGCCAAATGCAGTG -3'

Posted On

2014-01-29