Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01931:Myom3'

180445

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: 0.105) question?

Stock #

IGL01931

Quality Score

Status

Chromosome

Chromosomal Location

135487026-135542875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135516950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 840 (V840A)

Ref Sequence

ENSEMBL: ENSMUSP00000101480 (fasta)

Gene Model

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

AlphaFold

A2ABU4

Predicted Effect

probably benign
Transcript: ENSMUST00000105854
AA Change: V840A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: V840A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,869 (GRCm39)	E87G	unknown	Het
Ano2	A	G	6: 125,959,708 (GRCm39)	Y656C	probably damaging	Het
Cckbr	T	C	7: 105,075,310 (GRCm39)	S27P	probably benign	Het
Celsr1	T	A	15: 85,791,861 (GRCm39)	N2580I	probably damaging	Het
Cfap221	A	G	1: 119,860,625 (GRCm39)	L667P	probably damaging	Het
Col16a1	T	C	4: 129,966,634 (GRCm39)	C555R	possibly damaging	Het
Dync2h1	A	G	9: 7,114,973 (GRCm39)	V162A	probably damaging	Het
Dync2h1	G	A	9: 7,011,207 (GRCm39)	S3669L	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm4922	A	G	10: 18,660,042 (GRCm39)	S227P	probably benign	Het
Grin2c	A	G	11: 115,144,736 (GRCm39)	F597L	probably damaging	Het
Hook3	G	A	8: 26,578,083 (GRCm39)		probably benign	Het
Ltv1	A	G	10: 13,061,245 (GRCm39)	I106T	probably damaging	Het
Mdc1	T	C	17: 36,159,123 (GRCm39)	V501A	probably benign	Het
Myo15a	T	A	11: 60,386,964 (GRCm39)	C667S	probably damaging	Het
Naip1	G	T	13: 100,545,540 (GRCm39)	C1329*	probably null	Het
Oas1c	A	C	5: 120,943,560 (GRCm39)	I193S	probably benign	Het
Osbp2	C	T	11: 3,655,388 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,154,509 (GRCm39)		probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,456 (GRCm39)	Q302R	probably null	Het
Sec24b	G	A	3: 129,803,448 (GRCm39)	P305S	probably benign	Het
Spink5	A	T	18: 44,148,705 (GRCm39)	I923F	probably benign	Het
Thsd7a	A	T	6: 12,504,098 (GRCm39)	V352E	probably damaging	Het
Tpi1	A	G	6: 124,789,603 (GRCm39)	V152A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdfy4	C	T	14: 32,877,710 (GRCm39)	G85S	probably damaging	Het
Wnk4	A	G	11: 101,159,310 (GRCm39)	T139A	possibly damaging	Het
Zfp345	T	C	2: 150,315,270 (GRCm39)	H89R	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
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
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

2014-05-07