Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Myo1g'

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267815

Institutional Source

Beutler Lab

Gene Symbol

Myo1g

Ensembl Gene

ENSMUSG00000020437

Gene Name

myosin IG

Synonyms

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3413 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

6506548-6520965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6517870 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 188 (H188Q)

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: H188Q

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: H188Q

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

0.1213

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	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
R3816:Myo1g	UTSW	11	6510926	missense	probably benign	0.02
R3872:Myo1g	UTSW	11	6514886	missense	possibly damaging	0.94
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	splice site	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
R7214:Myo1g	UTSW	11	6511055	missense	probably damaging	1.00
R7258:Myo1g	UTSW	11	6509416	missense	possibly damaging	0.92
R7265:Myo1g	UTSW	11	6510933	missense	possibly damaging	0.92
R7750:Myo1g	UTSW	11	6514849	missense	probably damaging	1.00
X0017:Myo1g	UTSW	11	6516077	critical splice donor site	probably null
X0061:Myo1g	UTSW	11	6517967	missense	probably damaging	1.00
Z1176:Myo1g	UTSW	11	6519045	missense	probably damaging	1.00
Z1177:Myo1g	UTSW	11	6517935	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGATTCCAGCCTGGGAG -3'
(R):5'- ATGTTGCACTGACCCTACGG -3'

Sequencing Primer
(F):5'- GACCCCATCATGTGTTTCCAGG -3'
(R):5'- TGACCCTACGGCCCCTCTG -3'

Posted On

2015-02-18