Mutagenetix > Incidental Mutation

Incidental Mutation 'R6346:Myom3'

513945

Institutional Source

Beutler Lab

Gene Symbol

Myom3

Ensembl Gene

ENSMUSG00000037139

Gene Name

myomesin family, member 3

Synonyms

8430427K15Rik

MMRRC Submission

044500-MU

Accession Numbers

Essential gene?

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

Stock #

R6346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135487026-135542875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135533362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1185 (N1185I)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

probably benign
Transcript: ENSMUST00000105854
AA Change: N1185I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: N1185I

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: ENSMUST00000142177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145304

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	T	7: 75,335,002 (GRCm39)	S455L	probably damaging	Het
Apbb1ip	T	G	2: 22,757,005 (GRCm39)		probably null	Het
Arhgap18	A	T	10: 26,722,061 (GRCm39)	I11F	probably damaging	Het
Arl14epl	A	T	18: 47,059,409 (GRCm39)	N8I	possibly damaging	Het
Atp4a	T	A	7: 30,414,781 (GRCm39)	I190N	possibly damaging	Het
Bfar	T	C	16: 13,519,997 (GRCm39)	F285S	probably damaging	Het
Carf	C	T	1: 60,180,699 (GRCm39)	Q409*	probably null	Het
Cd244a	T	C	1: 171,404,889 (GRCm39)	V247A	probably damaging	Het
Ceacam12	T	A	7: 17,803,326 (GRCm39)	I244K	probably damaging	Het
Cmya5	T	C	13: 93,228,698 (GRCm39)	E2130G	probably damaging	Het
Cyp2b23	T	G	7: 26,381,150 (GRCm39)	H69P	probably damaging	Het
Dixdc1	T	C	9: 50,595,253 (GRCm39)	Q183R	probably damaging	Het
Dock10	T	A	1: 80,553,573 (GRCm39)		probably null	Het
Fam20c	T	C	5: 138,752,450 (GRCm39)	F279S	probably damaging	Het
Hcn4	C	T	9: 58,766,327 (GRCm39)	T665I	unknown	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kdm7a	A	T	6: 39,128,145 (GRCm39)		probably null	Het
Ksr1	A	C	11: 78,910,490 (GRCm39)	L814R	possibly damaging	Het
Lmnb1	A	G	18: 56,876,310 (GRCm39)	I473V	probably benign	Het
Mllt3	T	C	4: 87,759,445 (GRCm39)	K201R	probably damaging	Het
Myo1b	C	T	1: 51,823,666 (GRCm39)	C413Y	probably damaging	Het
Nrde2	A	G	12: 100,098,565 (GRCm39)	S701P	probably benign	Het
Ntn4	A	T	10: 93,480,723 (GRCm39)	D112V	probably damaging	Het
Nup43	T	A	10: 7,550,826 (GRCm39)	V232D	probably damaging	Het
Pcdha6	G	A	18: 37,101,113 (GRCm39)	C102Y	probably damaging	Het
Pcdhgb8	T	C	18: 37,895,131 (GRCm39)	L67P	probably damaging	Het
Pkd1l3	A	G	8: 110,358,016 (GRCm39)	H836R	probably damaging	Het
Plekha1	T	A	7: 130,479,512 (GRCm39)	I10N	probably benign	Het
Prss29	A	G	17: 25,540,084 (GRCm39)	T161A	possibly damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Secisbp2	C	T	13: 51,833,923 (GRCm39)	H688Y	probably damaging	Het
Senp5	A	G	16: 31,802,665 (GRCm39)	Y508H	probably damaging	Het
Shc3	T	A	13: 51,605,651 (GRCm39)	T210S	possibly damaging	Het
Slc27a2	G	A	2: 126,429,800 (GRCm39)	V467M	probably damaging	Het
Slc27a5	T	A	7: 12,724,899 (GRCm39)	E487V	possibly damaging	Het
Snx1	T	C	9: 66,001,930 (GRCm39)	T298A	possibly damaging	Het
Trir	A	G	8: 85,753,643 (GRCm39)	D39G	possibly damaging	Het
Ubd	C	T	17: 37,506,242 (GRCm39)	Q43*	probably null	Het
Ube2o	T	C	11: 116,432,194 (GRCm39)	E924G	probably damaging	Het
Vps13a	T	C	19: 16,659,578 (GRCm39)	I1650V	possibly damaging	Het
Xirp2	C	A	2: 67,346,425 (GRCm39)	R2889S	probably benign	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	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
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
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'- ATGTGTTCATTTCTACCCTCAGT -3'
(R):5'- CGCACACATCTTAGGCCAC -3'

Sequencing Primer
(F):5'- TATGCTCACACAGATACACTCAC -3'
(R):5'- TCTTAGGCCACATGTCACAC -3'

Posted On

2018-04-27