Mutagenetix > Incidental Mutation

Incidental Mutation 'R2438:Myo1g'

249703

Institutional Source

Beutler Lab

Gene Symbol

Myo1g

Ensembl Gene

ENSMUSG00000020437

Gene Name

myosin IG

Synonyms

E430002D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2438 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6456548-6470960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6461542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 636 (N636K)

Ref Sequence

ENSEMBL: ENSMUSP00000003459 (fasta)

Gene Model

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

AlphaFold

Q5SUA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000003459
AA Change: N636K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: N636K

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156878

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,936,133 (GRCm39)	V318A	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cd8b1	A	G	6: 71,306,740 (GRCm39)	K156E	probably damaging	Het
Ckap5	T	C	2: 91,425,753 (GRCm39)	M1262T	possibly damaging	Het
Crebbp	A	G	16: 3,972,722 (GRCm39)	M324T	possibly damaging	Het
Cwf19l1	G	A	19: 44,099,002 (GRCm39)	R523C	probably benign	Het
Defb21	A	T	2: 152,416,695 (GRCm39)	Y57F	possibly damaging	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Gfpt1	A	T	6: 87,034,727 (GRCm39)	E175V	probably null	Het
Gga1	T	C	15: 78,769,498 (GRCm39)	F157S	probably damaging	Het
Impdh2	A	T	9: 108,437,815 (GRCm39)	D28V	probably benign	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Krt5	T	C	15: 101,620,093 (GRCm39)	N208S	probably benign	Het
Matcap2	T	C	9: 22,342,979 (GRCm39)	V291A	probably damaging	Het
Myo15a	A	T	11: 60,373,878 (GRCm39)	I1242F	probably damaging	Het
Nrros	T	C	16: 31,962,929 (GRCm39)		probably null	Het
Nrros	C	T	16: 31,963,117 (GRCm39)	G264D	probably benign	Het
Nsun4	A	G	4: 115,905,794 (GRCm39)	V54A	probably benign	Het
Or4k49	A	T	2: 111,495,096 (GRCm39)	D175V	probably damaging	Het
Or5b105	A	T	19: 13,079,785 (GRCm39)	D294E	probably benign	Het
Pilrb2	T	A	5: 137,869,175 (GRCm39)	I142L	probably benign	Het
Ryr2	A	G	13: 11,816,734 (GRCm39)	S596P	probably damaging	Het
Sema5a	G	T	15: 32,550,399 (GRCm39)	S146I	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc43a2	A	T	11: 75,453,957 (GRCm39)	E290V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Zfp456	A	T	13: 67,515,073 (GRCm39)	I211N	probably damaging	Het

Other mutations in Myo1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Myo1g	APN	11	6,465,856 (GRCm39)	missense	possibly damaging	0.70
IGL01608:Myo1g	APN	11	6,466,780 (GRCm39)	missense	possibly damaging	0.61
IGL01679:Myo1g	APN	11	6,468,006 (GRCm39)	missense	possibly damaging	0.90
IGL01830:Myo1g	APN	11	6,464,522 (GRCm39)	nonsense	probably null
IGL02332:Myo1g	APN	11	6,470,766 (GRCm39)	missense	possibly damaging	0.61
IGL02813:Myo1g	APN	11	6,468,743 (GRCm39)	makesense	probably null
IGL02988:Myo1g	APN	11	6,458,183 (GRCm39)	splice site	probably benign
IGL03178:Myo1g	APN	11	6,462,181 (GRCm39)	missense	probably damaging	1.00
R0004:Myo1g	UTSW	11	6,465,901 (GRCm39)	missense	probably damaging	1.00
R0334:Myo1g	UTSW	11	6,461,084 (GRCm39)	splice site	probably benign
R0513:Myo1g	UTSW	11	6,460,203 (GRCm39)	missense	probably benign	0.00
R0730:Myo1g	UTSW	11	6,470,794 (GRCm39)	missense	probably damaging	1.00
R1054:Myo1g	UTSW	11	6,468,987 (GRCm39)	missense	probably damaging	1.00
R1434:Myo1g	UTSW	11	6,459,372 (GRCm39)	missense	probably benign	0.00
R1500:Myo1g	UTSW	11	6,470,811 (GRCm39)	missense	probably benign
R1513:Myo1g	UTSW	11	6,465,140 (GRCm39)	missense	probably damaging	0.99
R1720:Myo1g	UTSW	11	6,462,490 (GRCm39)	missense	probably benign	0.44
R1774:Myo1g	UTSW	11	6,465,988 (GRCm39)	missense	probably damaging	1.00
R1809:Myo1g	UTSW	11	6,462,283 (GRCm39)	missense	probably benign	0.02
R1957:Myo1g	UTSW	11	6,462,159 (GRCm39)	critical splice donor site	probably null
R1978:Myo1g	UTSW	11	6,470,829 (GRCm39)	missense	possibly damaging	0.53
R2212:Myo1g	UTSW	11	6,467,870 (GRCm39)	missense	possibly damaging	0.88
R2566:Myo1g	UTSW	11	6,462,539 (GRCm39)	critical splice acceptor site	probably null
R3158:Myo1g	UTSW	11	6,464,527 (GRCm39)	missense	possibly damaging	0.62
R3159:Myo1g	UTSW	11	6,464,527 (GRCm39)	missense	possibly damaging	0.62
R3413:Myo1g	UTSW	11	6,467,870 (GRCm39)	missense	possibly damaging	0.88
R3816:Myo1g	UTSW	11	6,460,926 (GRCm39)	missense	probably benign	0.02
R3872:Myo1g	UTSW	11	6,464,886 (GRCm39)	missense	possibly damaging	0.94
R3946:Myo1g	UTSW	11	6,470,760 (GRCm39)	missense	possibly damaging	0.89
R4551:Myo1g	UTSW	11	6,467,874 (GRCm39)	missense	probably damaging	1.00
R4625:Myo1g	UTSW	11	6,462,240 (GRCm39)	missense	probably damaging	1.00
R4630:Myo1g	UTSW	11	6,469,047 (GRCm39)	missense	probably damaging	1.00
R4700:Myo1g	UTSW	11	6,466,785 (GRCm39)	splice site	probably null
R4713:Myo1g	UTSW	11	6,466,080 (GRCm39)	missense	probably null	1.00
R4964:Myo1g	UTSW	11	6,465,976 (GRCm39)	missense	probably damaging	1.00
R5183:Myo1g	UTSW	11	6,458,243 (GRCm39)	missense	probably damaging	1.00
R5191:Myo1g	UTSW	11	6,465,105 (GRCm39)	missense	probably benign
R5192:Myo1g	UTSW	11	6,464,816 (GRCm39)	missense	probably damaging	1.00
R5726:Myo1g	UTSW	11	6,459,420 (GRCm39)	missense	probably benign	0.06
R5841:Myo1g	UTSW	11	6,457,000 (GRCm39)	missense	probably benign	0.05
R5942:Myo1g	UTSW	11	6,464,888 (GRCm39)	missense	probably damaging	1.00
R6225:Myo1g	UTSW	11	6,469,168 (GRCm39)	missense	probably damaging	1.00
R6517:Myo1g	UTSW	11	6,462,509 (GRCm39)	missense	probably damaging	0.99
R6563:Myo1g	UTSW	11	6,467,146 (GRCm39)	missense	possibly damaging	0.91
R7214:Myo1g	UTSW	11	6,461,055 (GRCm39)	missense	probably damaging	1.00
R7258:Myo1g	UTSW	11	6,459,416 (GRCm39)	missense	possibly damaging	0.92
R7265:Myo1g	UTSW	11	6,460,933 (GRCm39)	missense	possibly damaging	0.92
R7750:Myo1g	UTSW	11	6,464,849 (GRCm39)	missense	probably damaging	1.00
R8683:Myo1g	UTSW	11	6,467,569 (GRCm39)	critical splice donor site	probably null
R8910:Myo1g	UTSW	11	6,468,009 (GRCm39)	missense	possibly damaging	0.66
R9035:Myo1g	UTSW	11	6,464,916 (GRCm39)	missense	probably damaging	1.00
R9103:Myo1g	UTSW	11	6,466,153 (GRCm39)	missense	possibly damaging	0.88
R9162:Myo1g	UTSW	11	6,460,897 (GRCm39)	missense	probably damaging	0.98
R9487:Myo1g	UTSW	11	6,456,913 (GRCm39)	missense	probably benign
X0017:Myo1g	UTSW	11	6,466,077 (GRCm39)	critical splice donor site	probably null
X0061:Myo1g	UTSW	11	6,467,967 (GRCm39)	missense	probably damaging	1.00
Z1176:Myo1g	UTSW	11	6,469,045 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo1g	UTSW	11	6,467,935 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACAGACATTTTGTTGCCTTGG -3'
(R):5'- TCTTAGGGACCTGAGAAGCC -3'

Sequencing Primer
(F):5'- GAGGTGCACTGGCCCTAAC -3'
(R):5'- ACCTGAGAAGCCCTGGC -3'

Posted On

2014-11-12