Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Myo19'

22398

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

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

Stock #

R0142 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84894603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 224 (R224H)

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

probably damaging
Transcript: ENSMUST00000093969
AA Change: R224H

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

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: R224H

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,718,254	S1347P	possibly damaging	Het
Abca6	T	G	11: 110,188,641	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,461,862	F41V	probably damaging	Het
Ago4	T	G	4: 126,516,932	E222A	probably benign	Het
Ap3b2	T	C	7: 81,473,080	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,507,112	T749M	probably benign	Het
Bicc1	T	C	10: 70,925,370	K937E	probably damaging	Het
Bmi1	G	A	2: 18,683,284		probably null	Het
Boc	A	C	16: 44,490,241	I772S	probably damaging	Het
C2	T	A	17: 34,873,528	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,603,882	A1416E	probably damaging	Het
Chst10	A	G	1: 38,871,729	L118P	probably damaging	Het
Crybg1	G	A	10: 43,999,063	T683I	possibly damaging	Het
Cul5	C	T	9: 53,635,050	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,179,934	R211I	probably benign	Het
Emilin1	A	G	5: 30,913,920	T16A	probably benign	Het
Ercc6l2	A	C	13: 63,872,506		probably benign	Het
Fsd2	T	A	7: 81,559,935	D53V	probably damaging	Het
Galnt13	A	G	2: 55,098,603	D479G	probably damaging	Het
Grk3	A	T	5: 112,915,053	W643R	probably damaging	Het
Hdgf	G	A	3: 87,913,109	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,327,282	V182E	probably damaging	Het
Ipo13	A	C	4: 117,905,569	L279R	probably damaging	Het
Itga9	C	A	9: 118,636,586	N169K	probably damaging	Het
Jph3	A	G	8: 121,753,371	T263A	possibly damaging	Het
Jph4	G	T	14: 55,108,326	Q625K	probably benign	Het
Kctd3	A	C	1: 188,996,398		probably null	Het
Kif26b	A	T	1: 178,915,389	S570C	probably damaging	Het
Klhl5	G	A	5: 65,143,350	W164*	probably null	Het
Lacc1	A	T	14: 77,030,799	H357Q	probably benign	Het
Lama2	A	G	10: 27,187,845	I1316T	probably benign	Het
Lcp2	C	T	11: 34,082,418	P332L	probably damaging	Het
Map3k6	A	T	4: 133,250,946	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,866,234	V252A	probably benign	Het
Myo16	T	A	8: 10,569,790	I1447N	probably benign	Het
Myo5a	C	T	9: 75,160,574	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560	R539C	possibly damaging	Het
Nfix	A	T	8: 84,721,686	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,253,006	R203G	probably benign	Het
Nup210l	G	A	3: 90,172,113	G968D	probably damaging	Het
Olfr1494	A	T	19: 13,749,255	I50F	probably benign	Het
Olfr697	G	T	7: 106,741,765	H56Q	probably benign	Het
Olfr884	A	T	9: 38,048,110	H296L	probably benign	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Plcz1	A	G	6: 140,007,697	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,744,177	P808T	probably damaging	Het
Srpk2	T	C	5: 23,527,930	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232	V830A	probably benign	Het
Tesc	A	T	5: 118,056,570	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,335	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,894,378	D704G	possibly damaging	Het
Tob1	T	C	11: 94,214,597	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,987,916	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,277,457	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,540,942	V205A	probably benign	Het
Usp29	G	A	7: 6,962,335	M392I	probably benign	Het
Uspl1	A	T	5: 149,188,349	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,196,373	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,492,588	C553S	probably damaging	Het
Vwce	A	T	19: 10,664,612	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,857,444		probably null	Het
Zfp423	A	T	8: 87,780,340	C1000*	probably null	Het
Zscan20	A	G	4: 128,585,837	F954L	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
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'- CACTACACCTGGCTTTCCAAGGAC -3'
(R):5'- AGGAAACCTCTGTGCCCAAATTGTG -3'

Sequencing Primer
(F):5'- TTCCAAGGACGCTCTGAATG -3'
(R):5'- CCCAAATTGTGCCTGGTGAG -3'

Posted On

2013-04-16