Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Myo1g'

48025

Institutional Source

Beutler Lab

Gene Symbol

Myo1g

Ensembl Gene

ENSMUSG00000020437

Gene Name

myosin IG

Synonyms

E430002D17Rik

MMRRC Submission

038707-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0513 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

6456548-6470960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6460203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 782 (T782A)

Ref Sequence

ENSEMBL: ENSMUSP00000003459 (fasta)

Gene Model

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

AlphaFold

Q5SUA5

Predicted Effect

probably benign
Transcript: ENSMUST00000003459
AA Change: T782A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003459
Gene: ENSMUSG00000020437
AA Change: T782A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dag1	G	A	9: 108,085,684 (GRCm39)	P486S	possibly damaging	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	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
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
R2438:Myo1g	UTSW	11	6,461,542 (GRCm39)	missense	probably damaging	1.00
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'- GTTCCCTTGTGAAGACCAGGACAC -3'
(R):5'- AGCCAGCCTTCTCTGAGACAAGAC -3'

Sequencing Primer
(F):5'- GCCACTGAATGTCACTCAGC -3'
(R):5'- CTAGACTCAGGAGGCTAGTGTC -3'

Posted On

2013-06-12