Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Myo19'

34070

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

038473-MU

Accession Numbers

Essential gene?

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

Stock #

R0230 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

84770996-84802052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84784159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 186 (C186S)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020837] [ENSMUST00000093969]

AlphaFold

Q5SV80

Predicted Effect

probably benign
Transcript: ENSMUST00000020837

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527

Domain	Start	End	E-Value	Type
MYSc	29	205	2.18e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093969
AA Change: C186S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: C186S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174903

Meta Mutation Damage Score

0.1959

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy1	T	C	3: 113,352,079 (GRCm39)	D371G	probably benign	Het
Asrgl1	T	A	19: 9,095,883 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,585,383 (GRCm39)		probably benign	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,471,978 (GRCm39)	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,158,995 (GRCm39)	T504M	probably damaging	Het
Cdk12	T	G	11: 98,094,817 (GRCm39)	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,368,576 (GRCm39)	L81P	probably damaging	Het
Chrd	T	C	16: 20,552,025 (GRCm39)	L43P	probably benign	Het
Col6a4	A	C	9: 105,949,565 (GRCm39)	M690R	probably benign	Het
Cyp39a1	A	T	17: 44,042,903 (GRCm39)	R418W	probably damaging	Het
Dars2	C	T	1: 160,890,357 (GRCm39)	V162M	probably benign	Het
Dixdc1	C	T	9: 50,606,807 (GRCm39)	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,946,791 (GRCm39)	E1194*	probably null	Het
Dnah7b	T	C	1: 46,258,508 (GRCm39)	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,746,141 (GRCm39)	E3991K	probably damaging	Het
Dsp	A	T	13: 38,381,681 (GRCm39)	I2210F	probably benign	Het
Ebf1	A	G	11: 44,886,949 (GRCm39)	S556G	probably damaging	Het
Enam	G	A	5: 88,637,514 (GRCm39)		probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168 (GRCm39)	D579G	probably damaging	Het
Ephb3	A	T	16: 21,039,525 (GRCm39)	I426F	probably damaging	Het
Fam135b	T	G	15: 71,317,886 (GRCm39)	I1359L	probably benign	Het
Fcgbpl1	T	A	7: 27,856,250 (GRCm39)	H2012Q	probably damaging	Het
Gm16519	T	C	17: 71,236,128 (GRCm39)	S26P	probably benign	Het
Gm17622	T	A	13: 96,627,594 (GRCm39)		probably null	Het
Gpat2	G	A	2: 127,277,765 (GRCm39)	V764I	possibly damaging	Het
Gpx4	G	A	10: 79,890,838 (GRCm39)	A81T	probably benign	Het
Gss	C	A	2: 155,420,326 (GRCm39)	R83L	probably damaging	Het
Hcls1	C	A	16: 36,758,216 (GRCm39)	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336 (GRCm39)	V438A	probably benign	Het
Hnf4a	T	C	2: 163,401,005 (GRCm39)	F184S	probably damaging	Het
Katnal1	T	A	5: 148,855,460 (GRCm39)	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,174,083 (GRCm39)	D30G	probably benign	Het
Kyat1	T	C	2: 30,084,087 (GRCm39)	E11G	probably benign	Het
Lefty1	T	A	1: 180,764,579 (GRCm39)	V168E	probably damaging	Het
Map2k6	C	T	11: 110,387,281 (GRCm39)	P218S	probably damaging	Het
Mlkl	C	G	8: 112,041,694 (GRCm39)	K415N	probably benign	Het
Myh7	A	T	14: 55,211,390 (GRCm39)	M1593K	probably benign	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185 (GRCm38)	N192S	probably benign	Het
Or1j17	G	A	2: 36,578,628 (GRCm39)	V205M	probably benign	Het
Or2n1	A	G	17: 38,486,841 (GRCm39)	I289V	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8u9	T	C	2: 86,001,886 (GRCm39)	I92V	probably benign	Het
Pdcd6ip	A	G	9: 113,514,361 (GRCm39)		probably benign	Het
Pde4b	T	C	4: 102,454,707 (GRCm39)	Y186H	probably benign	Het
Pex7	A	G	10: 19,780,331 (GRCm39)	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,635,209 (GRCm39)	V1339A	probably benign	Het
Proser1	A	G	3: 53,386,383 (GRCm39)	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,674,997 (GRCm39)	D658G	probably damaging	Het
Rassf8	A	C	6: 145,765,700 (GRCm39)		probably benign	Het
Rfc4	G	A	16: 22,932,849 (GRCm39)	Q363*	probably null	Het
Rxfp1	T	C	3: 79,552,282 (GRCm39)	N673S	probably damaging	Het
Scn7a	T	C	2: 66,556,628 (GRCm39)	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,345,984 (GRCm39)		probably benign	Het
Scube2	C	T	7: 109,423,971 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,301,262 (GRCm39)	N184D	probably benign	Het
Slco1a5	T	A	6: 142,182,054 (GRCm39)		probably benign	Het
Slf1	T	A	13: 77,260,867 (GRCm39)		probably benign	Het
Smarca4	G	A	9: 21,612,168 (GRCm39)	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,250,993 (GRCm39)		probably benign	Het
Sox5	A	G	6: 144,155,064 (GRCm39)	F11L	probably benign	Het
Spag17	T	C	3: 100,014,143 (GRCm39)	S2139P	probably benign	Het
Spice1	A	T	16: 44,185,939 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,900,704 (GRCm39)		probably benign	Het
Srebf2	T	A	15: 82,066,286 (GRCm39)	N571K	probably damaging	Het
Tbl3	A	G	17: 24,920,307 (GRCm39)	L670P	probably damaging	Het
Tmem45a2	A	G	16: 56,867,359 (GRCm39)	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,826,053 (GRCm39)	N132D	possibly damaging	Het
Ttn	T	C	2: 76,567,778 (GRCm39)	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739 (GRCm39)	Y32*	probably null	Het
Ush2a	C	T	1: 188,582,301 (GRCm39)	P3788L	probably damaging	Het
Usp22	T	A	11: 61,050,023 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,197,381 (GRCm39)		probably benign	Het
Zbtb41	C	T	1: 139,374,673 (GRCm39)	T711I	probably damaging	Het
Zfp457	T	C	13: 67,442,180 (GRCm39)	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,754,150 (GRCm39)		probably benign	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
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
R7150:Myo19	UTSW	11	84,796,439 (GRCm39)	missense	probably benign
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'- ACATGCTGTGTCTGCCTAAAACCTG -3'
(R):5'- CTGCTGCCCCGTTTGCTGAG -3'

Sequencing Primer
(F):5'- tcacaactcccataacctcatc -3'
(R):5'- cgtttgctgagcccacc -3'

Posted On

2013-05-09