Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Myo19'

384461

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84892197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 179 (M179K)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000020837
AA Change: M179K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: M179K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: M179K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: M179K

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,325,599		probably benign	Het
A2ml1	A	T	6: 128,547,227	F1147L	probably damaging	Het
Abca2	T	C	2: 25,441,994	S1373P	probably damaging	Het
Abca9	A	T	11: 110,152,048	S392T	probably benign	Het
Abcd2	T	C	15: 91,163,110	D580G	probably benign	Het
Actl9	T	A	17: 33,433,908	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,336,931	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Cd3eap	T	C	7: 19,357,562	N207D	probably benign	Het
Cdkl3	T	C	11: 52,011,168	V68A	possibly damaging	Het
Cnot1	A	G	8: 95,721,626	F2266S	probably damaging	Het
Colq	T	C	14: 31,545,077	R159G	probably damaging	Het
Ctse	A	T	1: 131,664,392	D152V	probably damaging	Het
Cul7	G	T	17: 46,659,119	M1011I	probably benign	Het
Cyb5r4	G	T	9: 87,057,171	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,882,168	K216E	probably damaging	Het
F5	A	T	1: 164,194,186	H1410L	probably benign	Het
Frem2	T	C	3: 53,539,183	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,985,878	T3985M	probably benign	Het
Gak	T	C	5: 108,596,806	Y535C	probably damaging	Het
Gm15448	T	A	7: 3,822,806	M355L	probably benign	Het
Gzmc	G	T	14: 56,232,369	P158Q	probably damaging	Het
Hook3	A	G	8: 26,082,579	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Ing4	A	T	6: 125,043,998	M28L	probably benign	Het
Irs3	T	A	5: 137,644,492	D228V	probably damaging	Het
Jade1	T	A	3: 41,601,401	I301N	probably damaging	Het
Kif13b	T	A	14: 64,757,562	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,310,872	S2658P	probably benign	Het
Map3k4	A	G	17: 12,249,495		probably null	Het
Map4k5	C	T	12: 69,852,719	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827	S3694P	probably damaging	Het
Mgea5	C	A	19: 45,770,046		probably null	Het
Mroh7	A	G	4: 106,691,552	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,816,278	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,833,060	N117I	probably benign	Het
Myo1c	A	G	11: 75,671,588	Y902C	probably damaging	Het
Nf1	T	A	11: 79,444,643	I977K	probably damaging	Het
Nos1	T	C	5: 117,943,834	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,486,877	D119G	probably damaging	Het
Olfr1212	A	T	2: 88,958,519	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,167,759	V219A	probably damaging	Het
Prdx1	T	C	4: 116,691,931		probably null	Het
Rbfox1	C	T	16: 7,294,088	R173C	probably damaging	Het
Rbp3	T	A	14: 33,954,470	V125D	probably damaging	Het
Rhot1	T	A	11: 80,233,474	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978	R129C	probably damaging	Het
Setbp1	A	G	18: 78,858,167	S762P	probably benign	Het
Slc13a3	A	G	2: 165,448,699	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,218,870	M689K	probably benign	Het
Top2a	T	C	11: 98,993,841	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,638,854	N109K	probably damaging	Het
Tyk2	A	G	9: 21,120,501		probably null	Het
Wdfy3	A	T	5: 101,948,972	L320*	probably null	Het
Zfp456	T	C	13: 67,366,876	E237G	probably benign	Het
Zscan10	A	G	17: 23,607,173	E103G	possibly damaging	Het

Other mutations in Myo19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Myo19	APN	11	84909498	missense	probably benign	0.00
IGL01120:Myo19	APN	11	84907278	missense	probably damaging	0.96
IGL01542:Myo19	APN	11	84909546	missense	probably damaging	0.96
IGL02341:Myo19	APN	11	84888045	splice site	probably benign
IGL02708:Myo19	APN	11	84899396	missense	possibly damaging	0.89
IGL03223:Myo19	APN	11	84910471	missense	possibly damaging	0.57
BB004:Myo19	UTSW	11	84900220	missense	probably damaging	1.00
BB014:Myo19	UTSW	11	84900220	missense	probably damaging	1.00
R0009:Myo19	UTSW	11	84888169	critical splice donor site	probably null
R0125:Myo19	UTSW	11	84888175	splice site	probably benign
R0142:Myo19	UTSW	11	84894603	missense	probably damaging	1.00
R0226:Myo19	UTSW	11	84897732	splice site	probably benign
R0230:Myo19	UTSW	11	84893333	missense	possibly damaging	0.91
R0482:Myo19	UTSW	11	84909419	missense	probably benign	0.00
R1981:Myo19	UTSW	11	84892170	missense	possibly damaging	0.46
R2035:Myo19	UTSW	11	84897608	missense	probably benign
R2185:Myo19	UTSW	11	84892221	missense	probably benign	0.00
R3176:Myo19	UTSW	11	84892175	missense	probably benign	0.01
R3276:Myo19	UTSW	11	84892175	missense	probably benign	0.01
R3824:Myo19	UTSW	11	84885679	missense	probably damaging	0.98
R3914:Myo19	UTSW	11	84894603	missense	probably damaging	1.00
R4333:Myo19	UTSW	11	84908288	missense	probably benign	0.00
R4335:Myo19	UTSW	11	84908288	missense	probably benign	0.00
R4647:Myo19	UTSW	11	84894642	missense	probably damaging	1.00
R4968:Myo19	UTSW	11	84901502	missense	probably damaging	1.00
R5083:Myo19	UTSW	11	84903211	missense	possibly damaging	0.60
R5284:Myo19	UTSW	11	84885272	splice site	probably null
R5558:Myo19	UTSW	11	84910448	missense	probably damaging	1.00
R5739:Myo19	UTSW	11	84897624	missense	probably damaging	1.00
R5982:Myo19	UTSW	11	84899400	missense	probably damaging	0.97
R6093:Myo19	UTSW	11	84885709	missense	probably damaging	1.00
R6444:Myo19	UTSW	11	84895308	missense	probably benign
R6657:Myo19	UTSW	11	84897196	missense	probably benign
R6945:Myo19	UTSW	11	84897560	missense	probably benign	0.06
R7022:Myo19	UTSW	11	84900547	missense	probably damaging	0.99
R7058:Myo19	UTSW	11	84907368	missense	possibly damaging	0.89
R7150:Myo19	UTSW	11	84905613	missense	probably benign
R7155:Myo19	UTSW	11	84900586	missense	probably damaging	1.00
R7478:Myo19	UTSW	11	84885800	missense	probably benign	0.41
R7486:Myo19	UTSW	11	84905637	missense	probably benign
R7833:Myo19	UTSW	11	84909267	missense	probably benign
R7921:Myo19	UTSW	11	84908238	missense	possibly damaging	0.55
R7923:Myo19	UTSW	11	84885710	missense	possibly damaging	0.87
R7927:Myo19	UTSW	11	84900220	missense	probably damaging	1.00
R9105:Myo19	UTSW	11	84903203	missense	probably damaging	0.99
R9714:Myo19	UTSW	11	84882716	start codon destroyed	probably null	0.18
X0053:Myo19	UTSW	11	84897715	nonsense	probably null
Z1176:Myo19	UTSW	11	84885278	missense	probably benign	0.05
Z1176:Myo19	UTSW	11	84909350	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACGCTGTAGTGGGCATCTC -3'
(R):5'- CAGCTCTATCTAGAAAAGGGGTTTTG -3'

Sequencing Primer
(F):5'- TGTAGTGGGCATCTCTCCCG -3'
(R):5'- TCTAGAAAAGGGGTTTTGCAGATGC -3'

Posted On

2016-04-27