Mutagenetix > Incidental Mutations

Incidental Mutation 'R3872:Myo1g'

276624

Institutional Source

Beutler Lab

Gene Symbol

Myo1g

Ensembl Gene

ENSMUSG00000020437

Gene Name

myosin IG

Synonyms

MMRRC Submission

040790-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6506548-6520965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6514886 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 463 (V463I)

Ref Sequence

ENSEMBL: ENSMUSP00000003459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003459] [ENSMUST00000134489] [ENSMUST00000144725] [ENSMUST00000146536]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003459
AA Change: V463I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: V463I

Domain	Start	End	E-Value	Type
MYSc	9	714	N/A	SMART
IQ	715	737	2.79e0	SMART
Pfam:Myosin_TH1	821	1024	2.8e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131823

Predicted Effect

probably benign
Transcript: ENSMUST00000134489

SMART Domains

Protein: ENSMUSP00000122356
Gene: ENSMUSG00000020437

Domain	Start	End	E-Value	Type
Pfam:Myosin_head	51	99	5.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144725

SMART Domains

Protein: ENSMUSP00000120975
Gene: ENSMUSG00000020437

Domain	Start	End	E-Value	Type
Blast:MYSc	9	43	8e-14	BLAST
low complexity region	48	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146536

SMART Domains

Protein: ENSMUSP00000122438
Gene: ENSMUSG00000020437

Domain	Start	End	E-Value	Type
Blast:MYSc	9	38	2e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156878

Meta Mutation Damage Score

0.0832

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced B cell spreading, migration and homing and impaired T cell motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,010,219	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Baz2a	T	A	10: 128,124,110	M1419K	probably damaging	Het
BC055324	A	T	1: 163,986,964	S137T	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201		noncoding transcript	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Car12	C	A	9: 66,717,552		probably benign	Het
Cic	T	C	7: 25,271,699	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,575,327		probably benign	Het
Col6a4	T	C	9: 106,013,659	N1812S	possibly damaging	Het
Cry1	T	C	10: 85,133,160		probably null	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209	P274T	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,510	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,721,058	Y710C	probably damaging	Het
Dsc3	C	A	18: 19,971,508	K587N	probably damaging	Het
Epcam	C	A	17: 87,639,926	T36K	possibly damaging	Het
Epha2	T	C	4: 141,308,405	W51R	probably damaging	Het
Eya4	A	T	10: 23,155,972	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,000,329	V447I	possibly damaging	Het
Frg2f1	T	A	4: 119,530,958	T115S	possibly damaging	Het
Gm8332	T	C	12: 88,249,706	D132G	unknown	Het
Hecw2	A	T	1: 53,832,757		probably benign	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Iqca	A	T	1: 90,089,481	Y411N	probably damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt34	T	C	11: 100,041,417	H27R	probably benign	Het
Mia3	T	C	1: 183,356,998	E791G	probably benign	Het
Mroh2b	A	T	15: 4,925,061	K669*	probably null	Het
Msmo1	C	T	8: 64,722,463		probably null	Het
Muc6	T	C	7: 141,640,600	T1387A	probably benign	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr192	G	A	16: 59,098,761	T77I	unknown	Het
Pde10a	C	A	17: 8,757,091	T16K	possibly damaging	Het
Pfas	T	C	11: 69,000,263	T310A	probably damaging	Het
Phb2	G	A	6: 124,716,431		probably null	Het
Plin3	A	G	17: 56,284,181	S200P	probably damaging	Het
Plxna1	C	A	6: 89,332,692	E1087*	probably null	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Sacs	C	T	14: 61,148,068	T6M	probably benign	Het
Scfd1	A	G	12: 51,392,196	Y147C	probably damaging	Het
Sept1	T	C	7: 127,215,275		probably benign	Het
Sept5	A	G	16: 18,622,973	L344P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc35f1	A	G	10: 53,021,910	D139G	possibly damaging	Het
Sod3	A	G	5: 52,368,289	Y110C	probably damaging	Het
Stk35	T	C	2: 129,810,575	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,622,422	T279M	probably benign	Het
Tdo2	T	C	3: 81,968,086	E187G	probably benign	Het
Tmem150b	A	T	7: 4,724,361	Y48*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 42,136,454	S227L	probably benign	Het
Vps33a	C	T	5: 123,531,192	V549I	probably benign	Het
Zfp788	T	A	7: 41,649,444	Y449*	probably null	Het

Other mutations in Myo1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Myo1g	APN	11	6515856	missense	possibly damaging	0.70
IGL01608:Myo1g	APN	11	6516780	missense	possibly damaging	0.61
IGL01679:Myo1g	APN	11	6518006	missense	possibly damaging	0.90
IGL01830:Myo1g	APN	11	6514522	nonsense	probably null
IGL02332:Myo1g	APN	11	6520766	missense	possibly damaging	0.61
IGL02813:Myo1g	APN	11	6518743	makesense	probably null
IGL02988:Myo1g	APN	11	6508183	splice site	probably benign
IGL03178:Myo1g	APN	11	6512181	missense	probably damaging	1.00
R0004:Myo1g	UTSW	11	6515901	missense	probably damaging	1.00
R0334:Myo1g	UTSW	11	6511084	splice site	probably benign
R0513:Myo1g	UTSW	11	6510203	missense	probably benign	0.00
R0730:Myo1g	UTSW	11	6520794	missense	probably damaging	1.00
R1054:Myo1g	UTSW	11	6518987	missense	probably damaging	1.00
R1434:Myo1g	UTSW	11	6509372	missense	probably benign	0.00
R1500:Myo1g	UTSW	11	6520811	missense	probably benign
R1513:Myo1g	UTSW	11	6515140	missense	probably damaging	0.99
R1720:Myo1g	UTSW	11	6512490	missense	probably benign	0.44
R1774:Myo1g	UTSW	11	6515988	missense	probably damaging	1.00
R1809:Myo1g	UTSW	11	6512283	missense	probably benign	0.02
R1957:Myo1g	UTSW	11	6512159	critical splice donor site	probably null
R1978:Myo1g	UTSW	11	6520829	missense	possibly damaging	0.53
R2212:Myo1g	UTSW	11	6517870	missense	possibly damaging	0.88
R2438:Myo1g	UTSW	11	6511542	missense	probably damaging	1.00
R2566:Myo1g	UTSW	11	6512539	critical splice acceptor site	probably null
R3158:Myo1g	UTSW	11	6514527	missense	possibly damaging	0.62
R3159:Myo1g	UTSW	11	6514527	missense	possibly damaging	0.62
R3413:Myo1g	UTSW	11	6517870	missense	possibly damaging	0.88
R3816:Myo1g	UTSW	11	6510926	missense	probably benign	0.02
R3946:Myo1g	UTSW	11	6520760	missense	possibly damaging	0.89
R4551:Myo1g	UTSW	11	6517874	missense	probably damaging	1.00
R4625:Myo1g	UTSW	11	6512240	missense	probably damaging	1.00
R4630:Myo1g	UTSW	11	6519047	missense	probably damaging	1.00
R4700:Myo1g	UTSW	11	6516785	unclassified	probably null
R4713:Myo1g	UTSW	11	6516080	missense	probably null	1.00
R4964:Myo1g	UTSW	11	6515976	missense	probably damaging	1.00
R5183:Myo1g	UTSW	11	6508243	missense	probably damaging	1.00
R5191:Myo1g	UTSW	11	6515105	missense	probably benign
R5192:Myo1g	UTSW	11	6514816	missense	probably damaging	1.00
R5726:Myo1g	UTSW	11	6509420	missense	probably benign	0.06
R5841:Myo1g	UTSW	11	6507000	missense	probably benign	0.05
R5942:Myo1g	UTSW	11	6514888	missense	probably damaging	1.00
R6225:Myo1g	UTSW	11	6519168	missense	probably damaging	1.00
R6517:Myo1g	UTSW	11	6512509	missense	probably damaging	0.99
R6563:Myo1g	UTSW	11	6517146	missense	possibly damaging	0.91
X0017:Myo1g	UTSW	11	6516077	critical splice donor site	probably null
X0061:Myo1g	UTSW	11	6517967	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCGGAACCTGTCTGTG -3'
(R):5'- TGCAGCAGCTCTTTATCCAG -3'

Sequencing Primer
(F):5'- ATCGGAACCTGTCTGTGTGTCC -3'
(R):5'- AGCTCTTTATCCAGCTTATCCTGAAG -3'

Posted On

2015-04-06