Mutagenetix > Incidental Mutation

Incidental Mutation 'R7150:Myo19'

554078

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

045252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84770996-84802052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84796439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 684 (G684R)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093969]

AlphaFold

Q5SV80

Predicted Effect

probably benign
Transcript: ENSMUST00000093969
AA Change: G684R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: G684R

Domain	Start	End	E-Value	Type
MYSc	29	759	4.07e-219	SMART
IQ	760	782	1.74e1	SMART
IQ	783	804	1.97e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 125,589,653 (GRCm39)	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,529,630 (GRCm39)	S75P	probably benign	Het
Acad8	A	T	9: 26,889,750 (GRCm39)	F315I	probably damaging	Het
Adcy5	A	G	16: 35,118,904 (GRCm39)	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,693,382 (GRCm39)	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,977,583 (GRCm39)	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,296,491 (GRCm39)	F858C	probably damaging	Het
Ash1l	C	T	3: 88,984,381 (GRCm39)	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 91,031,848 (GRCm39)	A278E	probably damaging	Het
Btn1a1	A	T	13: 23,643,521 (GRCm39)	D309E	probably damaging	Het
Casd1	C	T	6: 4,624,211 (GRCm39)	R335C	probably benign	Het
Ceacam3	A	G	7: 16,885,487 (GRCm39)	Q30R		Het
Cfap20	C	T	8: 96,148,795 (GRCm39)	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,055,457 (GRCm39)		probably null	Het
Crot	A	G	5: 9,037,878 (GRCm39)	V146A	probably damaging	Het
Cx3cl1	A	G	8: 95,506,591 (GRCm39)	S199G	probably damaging	Het
Ddhd1	A	T	14: 45,895,263 (GRCm39)	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,583,689 (GRCm39)	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,408,055 (GRCm39)	D450E	probably benign	Het
Ercc3	A	T	18: 32,390,325 (GRCm39)	N538I	probably damaging	Het
Fzd1	A	T	5: 4,806,145 (GRCm39)	V479E	probably benign	Het
Gart	T	C	16: 91,425,351 (GRCm39)	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,469,888 (GRCm39)	V79L	probably benign	Het
Gucy1b1	T	C	3: 81,950,469 (GRCm39)	Y312C	probably damaging	Het
Hecw1	T	A	13: 14,609,045 (GRCm39)	M1L	probably benign	Het
Ip6k2	A	G	9: 108,673,930 (GRCm39)	I99V	unknown	Het
Itgb5	C	T	16: 33,761,013 (GRCm39)	T616I	probably benign	Het
Kmt2c	A	C	5: 25,505,360 (GRCm39)	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,601,346 (GRCm39)	R1008C	probably damaging	Het
Lin54	T	C	5: 100,633,159 (GRCm39)	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,318,395 (GRCm39)	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,513,726 (GRCm39)	E528G	probably benign	Het
Lyz3	T	C	10: 117,073,647 (GRCm39)	N62S	probably benign	Het
Mto1	A	G	9: 78,364,565 (GRCm39)	H299R	probably damaging	Het
Or14c45	A	C	7: 86,176,322 (GRCm39)	D119A	probably damaging	Het
Or7g32	A	T	9: 19,408,145 (GRCm39)	M34L	probably benign	Het
Pcdh18	C	A	3: 49,709,143 (GRCm39)	C724F	probably benign	Het
Pcdha3	A	T	18: 37,080,165 (GRCm39)	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,825,300 (GRCm39)	F764L	possibly damaging	Het
Pik3cb	C	A	9: 98,975,143 (GRCm39)	G246W	probably damaging	Het
Polr2m	A	T	9: 71,390,626 (GRCm39)	I192N	probably damaging	Het
Polr2m	G	T	9: 71,390,815 (GRCm39)	T129K	probably benign	Het
Pramel48	A	G	5: 95,630,680 (GRCm39)	I186V	possibly damaging	Het
Ptpn4	C	T	1: 119,619,475 (GRCm39)		probably null	Het
Scgb1b19	A	T	7: 32,986,940 (GRCm39)	K30N	possibly damaging	Het
Shpk	A	G	11: 73,104,315 (GRCm39)	T155A	probably damaging	Het
Slit3	T	C	11: 35,461,546 (GRCm39)	Y261H	probably damaging	Het
Sox13	A	G	1: 133,313,243 (GRCm39)	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,425,907 (GRCm39)	E61D	probably benign	Het
St18	A	G	1: 6,873,243 (GRCm39)	D326G	probably damaging	Het
Syde1	G	A	10: 78,422,032 (GRCm39)	Q566*	probably null	Het
Tacc2	A	G	7: 130,330,807 (GRCm39)	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Trim5	A	T	7: 103,926,017 (GRCm39)	N181K	probably damaging	Het
Trpc7	A	T	13: 56,931,509 (GRCm39)	I730K	probably benign	Het
Uqcrc1	T	A	9: 108,776,926 (GRCm39)	M377K	probably benign	Het
Vmn2r4	T	C	3: 64,305,898 (GRCm39)	N508S	probably benign	Het
Vmp1	A	T	11: 86,477,402 (GRCm39)	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854 (GRCm39)	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het

Other mutations in Myo19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Myo19	APN	11	84,800,324 (GRCm39)	missense	probably benign	0.00
IGL01120:Myo19	APN	11	84,798,104 (GRCm39)	missense	probably damaging	0.96
IGL01542:Myo19	APN	11	84,800,372 (GRCm39)	missense	probably damaging	0.96
IGL02341:Myo19	APN	11	84,778,871 (GRCm39)	splice site	probably benign
IGL02708:Myo19	APN	11	84,790,222 (GRCm39)	missense	possibly damaging	0.89
IGL03223:Myo19	APN	11	84,801,297 (GRCm39)	missense	possibly damaging	0.57
BB004:Myo19	UTSW	11	84,791,046 (GRCm39)	missense	probably damaging	1.00
BB014:Myo19	UTSW	11	84,791,046 (GRCm39)	missense	probably damaging	1.00
R0009:Myo19	UTSW	11	84,778,995 (GRCm39)	critical splice donor site	probably null
R0125:Myo19	UTSW	11	84,779,001 (GRCm39)	splice site	probably benign
R0142:Myo19	UTSW	11	84,785,429 (GRCm39)	missense	probably damaging	1.00
R0226:Myo19	UTSW	11	84,788,558 (GRCm39)	splice site	probably benign
R0230:Myo19	UTSW	11	84,784,159 (GRCm39)	missense	possibly damaging	0.91
R0482:Myo19	UTSW	11	84,800,245 (GRCm39)	missense	probably benign	0.00
R1981:Myo19	UTSW	11	84,782,996 (GRCm39)	missense	possibly damaging	0.46
R2035:Myo19	UTSW	11	84,788,434 (GRCm39)	missense	probably benign
R2185:Myo19	UTSW	11	84,783,047 (GRCm39)	missense	probably benign	0.00
R3176:Myo19	UTSW	11	84,783,001 (GRCm39)	missense	probably benign	0.01
R3276:Myo19	UTSW	11	84,783,001 (GRCm39)	missense	probably benign	0.01
R3824:Myo19	UTSW	11	84,776,505 (GRCm39)	missense	probably damaging	0.98
R3914:Myo19	UTSW	11	84,785,429 (GRCm39)	missense	probably damaging	1.00
R4333:Myo19	UTSW	11	84,799,114 (GRCm39)	missense	probably benign	0.00
R4335:Myo19	UTSW	11	84,799,114 (GRCm39)	missense	probably benign	0.00
R4647:Myo19	UTSW	11	84,785,468 (GRCm39)	missense	probably damaging	1.00
R4968:Myo19	UTSW	11	84,792,328 (GRCm39)	missense	probably damaging	1.00
R4971:Myo19	UTSW	11	84,783,023 (GRCm39)	missense	probably damaging	1.00
R5083:Myo19	UTSW	11	84,794,037 (GRCm39)	missense	possibly damaging	0.60
R5284:Myo19	UTSW	11	84,776,098 (GRCm39)	splice site	probably null
R5558:Myo19	UTSW	11	84,801,274 (GRCm39)	missense	probably damaging	1.00
R5739:Myo19	UTSW	11	84,788,450 (GRCm39)	missense	probably damaging	1.00
R5982:Myo19	UTSW	11	84,790,226 (GRCm39)	missense	probably damaging	0.97
R6093:Myo19	UTSW	11	84,776,535 (GRCm39)	missense	probably damaging	1.00
R6444:Myo19	UTSW	11	84,786,134 (GRCm39)	missense	probably benign
R6657:Myo19	UTSW	11	84,788,022 (GRCm39)	missense	probably benign
R6945:Myo19	UTSW	11	84,788,386 (GRCm39)	missense	probably benign	0.06
R7022:Myo19	UTSW	11	84,791,373 (GRCm39)	missense	probably damaging	0.99
R7058:Myo19	UTSW	11	84,798,194 (GRCm39)	missense	possibly damaging	0.89
R7155:Myo19	UTSW	11	84,791,412 (GRCm39)	missense	probably damaging	1.00
R7478:Myo19	UTSW	11	84,776,626 (GRCm39)	missense	probably benign	0.41
R7486:Myo19	UTSW	11	84,796,463 (GRCm39)	missense	probably benign
R7833:Myo19	UTSW	11	84,800,093 (GRCm39)	missense	probably benign
R7921:Myo19	UTSW	11	84,799,064 (GRCm39)	missense	possibly damaging	0.55
R7923:Myo19	UTSW	11	84,776,536 (GRCm39)	missense	possibly damaging	0.87
R7927:Myo19	UTSW	11	84,791,046 (GRCm39)	missense	probably damaging	1.00
R9105:Myo19	UTSW	11	84,794,029 (GRCm39)	missense	probably damaging	0.99
R9714:Myo19	UTSW	11	84,773,542 (GRCm39)	start codon destroyed	probably null	0.18
X0053:Myo19	UTSW	11	84,788,541 (GRCm39)	nonsense	probably null
Z1176:Myo19	UTSW	11	84,800,176 (GRCm39)	frame shift	probably null
Z1176:Myo19	UTSW	11	84,776,104 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATACCCTCCTCATTGATCCAGGG -3'
(R):5'- AAATGCTCTCCCATGTCCAC -3'

Sequencing Primer
(F):5'- TCATTGATCCAGGGGCGACAG -3'
(R):5'- ACCCGAGGAAGCTCTCTG -3'

Posted On

2019-05-15