Mutagenetix > Incidental Mutation

Incidental Mutation 'BB004:Myo19'

642285

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

Accession Numbers

Essential gene?

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

Stock #

BB004

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84900220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 419 (E419G)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: E419G

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

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: E419G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	A	2: 91,421,905	D37V	probably damaging	Het
4921539E11Rik	A	G	4: 103,266,342	M111T	probably benign	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Agrn	C	T	4: 156,172,809	G1188D	probably damaging	Het
Amz2	A	G	11: 109,429,058	K90R	probably damaging	Het
Arhgef4	G	T	1: 34,807,253	Q227H	probably damaging	Het
B4galt3	T	A	1: 171,271,772	C10*	probably null	Het
Banf2	T	A	2: 144,073,798	M53K	probably benign	Het
BC034090	A	T	1: 155,241,625	L249*	probably null	Het
Cftr	A	G	6: 18,267,971	D673G	possibly damaging	Het
Cntnap2	G	T	6: 47,095,687	C1063F	possibly damaging	Het
Dnah3	A	G	7: 119,951,271	I296T	probably damaging	Het
Dpy19l2	A	G	9: 24,695,901	V88A	probably benign	Het
Fbln5	T	C	12: 101,818,388		probably benign	Het
Fbn1	T	C	2: 125,383,736	D532G	possibly damaging	Het
Fnta	G	A	8: 26,004,426	R258*	probably null	Het
Gch1	G	A	14: 47,155,923	H201Y	probably damaging	Het
Gm13023	T	A	4: 143,792,966	I99N	probably benign	Het
Grik2	A	T	10: 49,240,794	S624T	probably damaging	Het
Grm5	T	A	7: 88,036,174	S500T	probably benign	Het
Hmcn1	T	A	1: 150,609,775	I4359F	probably damaging	Het
Hrc	T	A	7: 45,336,053	H209Q	possibly damaging	Het
Hsd17b14	T	C	7: 45,565,971	M164T	probably damaging	Het
Hydin	T	C	8: 110,580,844	F3952L	possibly damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lig4	A	T	8: 9,973,629	H50Q	possibly damaging	Het
Lrp6	G	T	6: 134,520,550	R165S	probably damaging	Het
Muc4	A	G	16: 32,771,637	T958A		Het
Ndufa5	A	G	6: 24,527,292	V16A	possibly damaging	Het
Olfr714	T	C	7: 107,074,289	F154L	probably benign	Het
Phf24	A	C	4: 42,934,774	T137P	probably damaging	Het
Pkp4	A	T	2: 59,311,754	N467I	probably damaging	Het
Rbm12b2	C	T	4: 12,095,417	R759C	possibly damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rnf34	T	A	5: 122,850,225		probably benign	Het
Scaf8	T	A	17: 3,159,220	S73T	unknown	Het
Scn4a	T	A	11: 106,342,383	E454D	probably damaging	Het
Serpina1e	A	G	12: 103,951,191	V73A	probably benign	Het
Sh3rf2	A	G	18: 42,111,422	T350A	probably benign	Het
Slc35a1	A	G	4: 34,669,021	V264A	probably damaging	Het
Slf2	A	G	19: 44,935,301	K185E	probably damaging	Het
Spsb2	T	C	6: 124,809,373	F23S	probably benign	Het
Ssx2ip	T	G	3: 146,432,610	L404R	probably damaging	Het
Strn4	T	A	7: 16,826,631	L236Q	probably null	Het
Tcp10b	A	G	17: 13,069,692	T202A	probably benign	Het
Tdp1	G	T	12: 99,912,296	V448L	probably damaging	Het
Tecrl	T	C	5: 83,354,819	E61G	probably damaging	Het
Tepp	T	A	8: 95,313,158	S68T	probably benign	Het
Trim50	T	C	5: 135,353,611	F106L	probably benign	Het
Usp5	G	T	6: 124,824,229	F224L	probably benign	Het
Vmn2r114	G	C	17: 23,291,645	N620K	probably damaging	Het
Vmn2r45	C	A	7: 8,483,514	M258I	probably benign	Het
Zfp574	T	A	7: 25,080,147	V198E	probably benign	Het
Zmym4	A	G	4: 126,905,377	I722T	probably benign	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
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
R4971:Myo19	UTSW	11	84892197	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'- GCTGCCCTTCATTCAGATGTG -3'
(R):5'- TCCCAGAGGAGCATTAAGGAAC -3'

Sequencing Primer
(F):5'- CTTGCTCTGATGTAGTATGAAGCAAG -3'
(R):5'- CAAGGAACAAAGGTGCCT -3'

Posted On

2020-08-01