Mutagenetix > Incidental Mutations

Incidental Mutation 'R5841:Myo1g'

450447

Institutional Source

Beutler Lab

Gene Symbol

Myo1g

Ensembl Gene

ENSMUSG00000020437

Gene Name

myosin IG

Synonyms

MMRRC Submission

044061-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6506548-6520965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6507000 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 942 (Y942F)

Ref Sequence

ENSEMBL: ENSMUSP00000003459 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003459
AA Change: Y942F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: Y942F

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: ENSMUST00000134639

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,174,350	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596	V188D	probably benign	Het
Bbs12	T	G	3: 37,319,521	N39K	probably benign	Het
Bend5	A	G	4: 111,433,470	Y221C	probably damaging	Het
Brd8	A	G	18: 34,605,523	S683P	probably damaging	Het
Caskin1	A	G	17: 24,496,209	D79G	probably damaging	Het
Cdyl	T	C	13: 35,872,561	L509P	probably damaging	Het
Cenpf	G	T	1: 189,657,444	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,600,682	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,985,238	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,326,702	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,097,506	F181Y	probably damaging	Het
Dennd5b	T	C	6: 149,044,755	T453A	probably benign	Het
Dlgap3	A	G	4: 127,195,400	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,951,021		probably benign	Het
Dync2li1	G	A	17: 84,633,562	G69R	probably damaging	Het
Edc3	T	C	9: 57,744,602	V331A	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ganc	C	T	2: 120,411,539	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,772,317	C179F	unknown	Het
Gm13088	A	G	4: 143,655,539	S196P	possibly damaging	Het
Gm15448	T	A	7: 3,822,899	R324*	probably null	Het
Gnptg	A	G	17: 25,235,417	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,826,210	V349I	probably benign	Het
Hydin	T	C	8: 110,533,214	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,058,840	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,559,396	R13H	probably benign	Het
Klb	A	T	5: 65,379,324	K666*	probably null	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Kpna7	T	C	5: 144,993,956	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,570	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,480,153	Y2692F	probably benign	Het
Meis2	T	A	2: 116,058,664	E202D	probably benign	Het
Mgat4c	A	T	10: 102,388,965	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,922,985	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Mycbpap	T	A	11: 94,505,610	R135W	probably damaging	Het
Myrf	T	C	19: 10,223,547	K52R	probably null	Het
Ncf2	A	T	1: 152,821,518		silent	Het
Olfr585	T	C	7: 103,097,954	F71S	probably damaging	Het
Otx1	T	C	11: 21,998,594		probably benign	Het
Pcnx	T	A	12: 81,918,655	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,492,270	L305P	probably damaging	Het
Polr3a	A	T	14: 24,450,698	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,984	T644A	probably benign	Het
Ptbp1	A	G	10: 79,859,932	D289G	probably benign	Het
Pwp2	A	G	10: 78,172,118	F868L	probably benign	Het
Rgs8	A	G	1: 153,692,828	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,602,354		probably benign	Het
Sbf1	T	C	15: 89,308,068	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,125,721	Y349*	probably null	Het
Slc38a9	T	C	13: 112,695,322	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,912,349	M216K	probably damaging	Het
Slc9a3r2	A	T	17: 24,644,877	M8K	probably benign	Het
Srebf1	T	A	11: 60,203,584	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,252,829	N315S	probably benign	Het
Strc	A	G	2: 121,365,877	F1557L	probably benign	Het
Susd3	C	A	13: 49,238,726		probably benign	Het
Usp54	G	A	14: 20,550,283	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,137,802	N150K	probably damaging	Het
Vwa8	C	T	14: 78,994,518	H606Y	probably benign	Het
Zmym6	A	G	4: 127,100,670	I206V	possibly 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
R3413:Myo1g	UTSW	11	6517870	missense	possibly damaging	0.88
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
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
R8683:Myo1g	UTSW	11	6517569	critical splice donor site	probably null
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'- TCCCTCTCTGCAACAGGAAG -3'
(R):5'- ACACACTTCCACTGCATGATG -3'

Sequencing Primer
(F):5'- TCTCTGCAACAGGAAGGGCAG -3'
(R):5'- TGGCTGGACACTGGAGC -3'

Posted On

2016-12-20