Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Myo19'

545706

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7022 (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 84900547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 476 (L476P)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: L476P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: L476P

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

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,083,500	S203T	probably damaging	Het
Adat1	A	T	8: 111,989,862	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,116,899	V56L	probably benign	Het
Ascc3	T	A	10: 50,716,629	L1134I	possibly damaging	Het
C3	T	G	17: 57,217,286	D948A	probably damaging	Het
Ccdc40	A	G	11: 119,231,786	E138G	possibly damaging	Het
Cd80	A	G	16: 38,486,504		probably null	Het
Cdca7	T	A	2: 72,479,529		probably null	Het
Chit1	A	G	1: 134,151,292	S447G	probably benign	Het
Cmya5	C	T	13: 93,069,278		probably null	Het
Cnnm2	T	A	19: 46,858,940		probably null	Het
Cnnm2	A	T	19: 46,762,550	I260F	probably damaging	Het
Col1a2	T	C	6: 4,534,639	L881P	unknown	Het
Crebbp	A	T	16: 4,117,323	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,271,637	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,720,798	P4477S	probably benign	Het
Donson	A	G	16: 91,681,330	Y428H	probably damaging	Het
Dsp	G	T	13: 38,191,740	W1167L	probably benign	Het
Elmo2	C	T	2: 165,295,041	V592M	probably damaging	Het
Enpp3	T	A	10: 24,826,195	E60D	probably damaging	Het
Fam83b	TAAGA	T	9: 76,502,112		probably null	Het
Fbxo38	A	G	18: 62,536,224	C52R	probably damaging	Het
Gm10912	T	C	2: 104,066,710	W65R	probably damaging	Het
Gm43518	A	T	5: 123,936,427	M44L	probably benign	Het
Gm4881	A	T	7: 24,931,664		probably null	Het
Gm6583	A	C	5: 112,355,529	M103R	probably benign	Het
Gnb1	T	A	4: 155,553,456	D212E	probably damaging	Het
Gnl1	A	G	17: 35,988,728	N597S	probably damaging	Het
Gprin1	T	G	13: 54,739,042	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,623,214	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,519,209	S29P	probably damaging	Het
Ints6	A	G	14: 62,714,337	V232A	probably damaging	Het
Jup	A	G	11: 100,379,553	L376P	probably damaging	Het
Kdr	A	T	5: 75,972,260	Y119*	probably null	Het
Kif1a	T	G	1: 93,066,098	T377P	probably benign	Het
Lama5	C	A	2: 180,180,731	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,483,208	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,368,324	Q255*	probably null	Het
Msh3	A	C	13: 92,235,588	D891E	probably damaging	Het
Msl2	A	G	9: 101,075,282	N2D	possibly damaging	Het
Nbeal2	G	A	9: 110,638,618	R501W	probably damaging	Het
Nfasc	C	A	1: 132,621,049	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,917,100	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,244,481	D34E	probably damaging	Het
Nup205	T	A	6: 35,243,936	V1891D	probably benign	Het
Olfr172	T	C	16: 58,761,119	N19S	probably benign	Het
Olfr577	T	A	7: 102,973,968	N8I	possibly damaging	Het
Olfr936	G	T	9: 39,047,083	C156*	probably null	Het
Olfr998	T	A	2: 85,590,598	D19E	probably benign	Het
Oscp1	G	A	4: 126,082,990		probably null	Het
Pcdhgb7	A	G	18: 37,753,033	T419A	probably damaging	Het
Pdzph1	T	C	17: 58,974,126	D387G	probably benign	Het
Phc1	A	G	6: 122,335,031	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,622,063	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,500,871	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,376,394	L250Q	probably damaging	Het
Ror1	T	A	4: 100,407,911	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,957,802		probably null	Het
Rundc3b	T	C	5: 8,512,348	K340R	probably null	Het
Scn1a	T	A	2: 66,317,899	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,094,657		probably null	Het
Skiv2l	A	G	17: 34,845,207	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,200,059	M114K	probably damaging	Het
Sorl1	A	C	9: 41,969,751	I2158S	probably benign	Het
Strip1	A	T	3: 107,626,795	F174L	probably benign	Het
Sucnr1	A	T	3: 60,086,278	I76L	probably benign	Het
Syt17	C	T	7: 118,408,019	V412I	probably benign	Het
Tie1	T	A	4: 118,489,653	H18L	probably benign	Het
Tpp1	T	G	7: 105,748,922	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,241,569	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,657,822	N260S	probably benign	Het
Vps41	C	A	13: 18,842,268	T512K	possibly damaging	Het
Vps52	A	T	17: 33,959,319	M147L	probably benign	Het
Ywhaq	A	G	12: 21,391,751		probably benign	Het
Zfp619	A	G	7: 39,534,963	N139S	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
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
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'- GGAGGCACCTTTGTTCCTTG -3'
(R):5'- AGCATCCTCAGTGTCTGGAC -3'

Sequencing Primer
(F):5'- AGGCACCTTTGTTCCTTGTTTTATG -3'
(R):5'- CCCACGGTAGCAGAGTTGTAAC -3'

Posted On

2019-05-13