Mutagenetix > Incidental Mutation

Incidental Mutation 'R9105:Myo19'

691973

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

068917-MU

Accession Numbers

Essential gene?

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

Stock #

R9105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84903203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 651 (I651T)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: I651T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: I651T

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: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,603,545	K139*	probably null	Het
Acsl5	A	T	19: 55,280,570	K221I	probably benign	Het
Actrt2	G	A	4: 154,667,220	T153I	probably damaging	Het
Adam34	C	T	8: 43,650,748	C620Y	probably damaging	Het
Adgrl2	T	C	3: 148,837,653	K812E	possibly damaging	Het
Aig1	T	C	10: 13,653,595	T224A	probably benign	Het
Apbb2	G	T	5: 66,302,672	S694*	probably null	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Bcl3	T	A	7: 19,809,250	I352F	probably damaging	Het
Btbd19	C	T	4: 117,120,764	R276Q	probably damaging	Het
Btnl9	G	A	11: 49,175,634	P368S	probably benign	Het
Ccdc97	T	C	7: 25,713,112	T302A	probably benign	Het
Cdh11	T	C	8: 102,634,336	D790G	probably damaging	Het
Cep350	T	C	1: 155,959,815	N45S	probably damaging	Het
Col5a2	T	A	1: 45,380,206	Y1238F	probably benign	Het
Ctdspl2	C	T	2: 122,006,870	L373F	probably damaging	Het
Dolpp1	A	T	2: 30,399,140		probably null	Het
Efr3b	A	T	12: 3,981,782	L340Q	probably damaging	Het
Ehd4	T	C	2: 120,102,279	N222S	probably damaging	Het
Fam26e	A	G	10: 34,092,148	V303A	probably benign	Het
Fgf8	A	C	19: 45,742,051		probably benign	Het
Frmd4a	A	G	2: 4,535,183	I205V	probably damaging	Het
G6pc3	C	T	11: 102,193,577	A271V	probably benign	Het
Gab1	T	C	8: 80,788,960	D243G	probably damaging	Het
Gbp9	A	G	5: 105,094,076	I205T	probably benign	Het
Gm340	G	A	19: 41,584,872	A689T	possibly damaging	Het
Gtf2b	T	A	3: 142,783,289	F304Y	probably benign	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Ip6k3	A	G	17: 27,145,195	L293P	probably damaging	Het
Itgb7	A	G	15: 102,227,469	S44P	probably damaging	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lancl1	T	A	1: 67,004,803	Y346F	possibly damaging	Het
Lca5l	T	G	16: 96,159,471	E602A	probably damaging	Het
Lrp1b	A	G	2: 41,506,791	V421A		Het
Lrrtm3	A	G	10: 64,088,557	V277A	possibly damaging	Het
Lypla1	T	C	1: 4,841,059	L189P	probably damaging	Het
Msantd3	A	T	4: 48,560,963	N180Y	possibly damaging	Het
Muc3	T	C	5: 137,142,390	Y131C		Het
Ndst2	T	C	14: 20,730,002	S57G	probably benign	Het
Olfr106-ps	C	T	17: 37,394,840	T100I	probably benign	Het
Olfr1222	C	T	2: 89,125,651	V27I	probably benign	Het
Olfr342	A	G	2: 36,528,282	Y290C	probably damaging	Het
Olfr414	T	A	1: 174,431,295	I289N	probably damaging	Het
Pik3c2a	T	C	7: 116,372,814	T794A	probably benign	Het
Pla2g6	T	A	15: 79,299,197		probably null	Het
Pnrc1	C	A	4: 33,246,207	G251*	probably null	Het
Pramef17	A	T	4: 143,992,025		probably benign	Het
Psg17	A	T	7: 18,821,408	V3E	probably benign	Het
Psmb9	A	T	17: 34,182,931		probably benign	Het
Slc12a5	A	G	2: 164,996,194	T982A	probably benign	Het
Srrd	T	C	5: 112,337,599	D286G	possibly damaging	Het
Tcp10b	T	C	17: 13,066,349	S153P	probably benign	Het
Tmem131	C	A	1: 36,815,510	S886I	probably benign	Het
Ttk	T	A	9: 83,863,491	D630E	probably damaging	Het
Vnn3	T	C	10: 23,864,563	W255R	probably damaging	Het
Vps13c	T	G	9: 67,870,799		probably benign	Het
Wdfy3	T	C	5: 101,882,646	Q2332R	probably benign	Het
Xkr8	A	T	4: 132,732,337	Y43*	probably null	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
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
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'- GCTATATGAGGAGCCAGGTAC -3'
(R):5'- TCCATAGGAATGTAGGCCCTAC -3'

Sequencing Primer
(F):5'- TCGGTTTCTCATGATCCCACAGAG -3'
(R):5'- CCAGGGCAGAGATTCCACACTG -3'

Posted On

2021-12-30