Mutagenetix > Incidental Mutation

Incidental Mutation 'R5158:Myom3'

396824

Institutional Source

Beutler Lab

Gene Symbol

Myom3

Ensembl Gene

ENSMUSG00000037139

Gene Name

myomesin family, member 3

Synonyms

8430427K15Rik

MMRRC Submission

042740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5158 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135487026-135542875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135492897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 149 (C149S)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000105854
AA Change: C149S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: C149S

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,825,755 (GRCm39)	T357I	probably benign	Het
Abca14	A	T	7: 119,852,652 (GRCm39)	R872S	probably benign	Het
Adnp2	A	G	18: 80,180,758 (GRCm39)	Y47H	probably damaging	Het
Atp6v0d2	T	C	4: 19,878,292 (GRCm39)	N327S	probably damaging	Het
Ccdc190	A	G	1: 169,760,578 (GRCm39)	R69G	probably benign	Het
Cfap54	T	C	10: 92,901,059 (GRCm39)	D213G	probably damaging	Het
Clcn4	G	A	7: 7,294,618 (GRCm39)	T381I	possibly damaging	Het
Cobl	A	G	11: 12,206,198 (GRCm39)	F477S	possibly damaging	Het
Ctdspl2	T	A	2: 121,811,774 (GRCm39)	V205E	probably benign	Het
Dhx37	A	T	5: 125,492,216 (GRCm39)	Y1128N	probably damaging	Het
Ehmt2	G	A	17: 35,130,640 (GRCm39)	E1085K	probably damaging	Het
Fam149a	T	G	8: 45,803,472 (GRCm39)	I340L	possibly damaging	Het
Fut9	T	A	4: 25,620,731 (GRCm39)	I28F	probably benign	Het
Il36g	T	A	2: 24,082,798 (GRCm39)	I191K	probably damaging	Het
Iqgap1	T	C	7: 80,392,816 (GRCm39)	N716D	probably benign	Het
Itgb7	T	C	15: 102,125,464 (GRCm39)	D672G	probably benign	Het
Kat6b	A	G	14: 21,720,054 (GRCm39)	M1469V	possibly damaging	Het
Kif3a	T	C	11: 53,479,578 (GRCm39)	F430L	probably benign	Het
L3mbtl3	T	C	10: 26,179,586 (GRCm39)	D523G	unknown	Het
Mcf2l	A	G	8: 13,059,715 (GRCm39)	Q736R	probably damaging	Het
Mpl	T	G	4: 118,313,881 (GRCm39)	D128A	probably damaging	Het
N4bp2	A	G	5: 65,965,805 (GRCm39)	I1285V	probably damaging	Het
Nalcn	T	C	14: 123,753,149 (GRCm39)	Q279R	probably damaging	Het
Ndc1	T	G	4: 107,232,362 (GRCm39)	S182R	probably damaging	Het
Ngf	A	T	3: 102,427,445 (GRCm39)	M65L	possibly damaging	Het
Or2n1	T	A	17: 38,486,345 (GRCm39)	Y123*	probably null	Het
Pigb	T	C	9: 72,929,683 (GRCm39)	Y300C	probably damaging	Het
Pla2g2a	T	G	4: 138,560,595 (GRCm39)	*69G	probably null	Het
Ppp1r12b	T	C	1: 134,814,166 (GRCm39)	E379G	probably damaging	Het
Ptdss2	T	C	7: 140,731,684 (GRCm39)	F164S	probably benign	Het
Ptprc	T	C	1: 138,102,822 (GRCm39)	T2A	possibly damaging	Het
Ptprq	T	A	10: 107,370,565 (GRCm39)	N2042I	probably damaging	Het
Rdh10	A	T	1: 16,178,221 (GRCm39)	R164S	probably damaging	Het
Sec31a	A	T	5: 100,541,180 (GRCm39)	I309N	probably damaging	Het
Skint5	A	T	4: 113,599,409 (GRCm39)	I710N	unknown	Het
Slc25a30	A	T	14: 76,008,956 (GRCm39)	L26Q	probably damaging	Het
Sptan1	G	A	2: 29,868,455 (GRCm39)	V34I	probably damaging	Het
Sult1e1	A	T	5: 87,735,453 (GRCm39)	I75N	probably damaging	Het
Trpa1	A	G	1: 14,951,885 (GRCm39)	V938A	probably benign	Het
Vps16	C	T	2: 130,283,199 (GRCm39)	R531C	probably damaging	Het
Zbtb22	C	T	17: 34,137,423 (GRCm39)	H523Y	probably damaging	Het
Zfp39	G	A	11: 58,780,671 (GRCm39)	T697M	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
R1235:Myom3	UTSW	4	135,516,854 (GRCm39)	missense	probably benign	0.09
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
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'- AGAGCACAGTCCTTGACCAC -3'
(R):5'- TATGGCCTTGCTGAGACAGAGG -3'

Sequencing Primer
(F):5'- CAGTCCTTGACCACTGAGC -3'
(R):5'- AACCTTGGGTGAAGATGCCC -3'

Posted On

2016-06-21