Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03253:Myom3'

414595

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: 0.103) question?

Stock #

IGL03253

Quality Score

Status

Chromosome

Chromosomal Location

135487026-135542875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135510408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 567 (E567G)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105854
AA Change: E567G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: E567G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,187,657 (GRCm39)	V98I	probably benign	Het
Aadacl4	G	T	4: 144,349,858 (GRCm39)	V372L	probably benign	Het
Acp5	A	T	9: 22,039,083 (GRCm39)	I210N	probably damaging	Het
Ash1l	G	A	3: 88,891,981 (GRCm39)	A1287T	probably damaging	Het
AU018091	A	T	7: 3,214,002 (GRCm39)	C72S	probably damaging	Het
Ccdc178	G	A	18: 21,978,068 (GRCm39)	Q800*	probably null	Het
Cd47	A	T	16: 49,714,561 (GRCm39)	H190L	probably benign	Het
Clca3a2	T	A	3: 144,777,324 (GRCm39)	H849L	probably benign	Het
Cmya5	G	A	13: 93,227,778 (GRCm39)	Q2437*	probably null	Het
Depdc5	T	C	5: 33,026,157 (GRCm39)		probably benign	Het
Erp44	T	A	4: 48,208,750 (GRCm39)	I237F	probably benign	Het
Gramd1a	C	T	7: 30,839,271 (GRCm39)	W8*	probably null	Het
Gucy2d	C	T	7: 98,100,871 (GRCm39)	A398V	probably benign	Het
Hecw2	T	C	1: 53,871,875 (GRCm39)	E1357G	possibly damaging	Het
Ighv1-11	T	C	12: 114,579,468 (GRCm39)		probably benign	Het
Itih3	A	C	14: 30,633,880 (GRCm39)		probably null	Het
Kcnk5	A	G	14: 20,192,405 (GRCm39)	V252A	probably benign	Het
Kif14	A	G	1: 136,415,198 (GRCm39)	E771G	probably damaging	Het
Klc1	T	C	12: 111,748,078 (GRCm39)		probably benign	Het
Or4a70	A	G	2: 89,324,143 (GRCm39)	V171A	possibly damaging	Het
Pfpl	A	G	19: 12,407,393 (GRCm39)	D548G	probably damaging	Het
Psma5-ps	A	G	10: 85,149,556 (GRCm39)		noncoding transcript	Het
Rad54l2	A	G	9: 106,581,422 (GRCm39)	V833A	probably damaging	Het
Scnn1g	A	T	7: 121,337,156 (GRCm39)	K6*	probably null	Het
Sun1	T	C	5: 139,209,341 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,053,434 (GRCm39)		probably null	Het
Ttc1	T	A	11: 43,629,650 (GRCm39)	E172V	probably benign	Het
Ttn	A	G	2: 76,599,364 (GRCm39)	V19215A	probably damaging	Het
Vwa3a	A	G	7: 120,378,092 (GRCm39)	I461V	probably benign	Het
Wdr73	A	G	7: 80,547,694 (GRCm39)	M110T	probably benign	Het
Zfand4	A	T	6: 116,261,770 (GRCm39)	D111V	probably damaging	Het
Zscan4f	T	A	7: 11,135,270 (GRCm39)	N225K	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
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
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

Posted On

2016-08-02