Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Myo19'

579622

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: 0.136) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84885800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 94 (H94L)

Ref Sequence

ENSEMBL: ENSMUSP00000020837 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably benign
Transcript: ENSMUST00000020837
AA Change: H94L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: H94L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: H94L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: H94L

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

0.1679

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,267	R516G	probably damaging	Het
Ak9	T	C	10: 41,389,091	F948S		Het
Aldh3b3	A	G	19: 3,964,549	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,598,500	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,685,171	R1186W	unknown	Het
Arpc4	T	A	6: 113,384,131	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,696,312	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,874,427	N103D	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camsap2	T	C	1: 136,270,940	T782A		Het
Catsperd	A	G	17: 56,664,055	I706M	probably benign	Het
Cbx2	T	C	11: 119,029,115	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,843,578	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,317,707	G632R	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efcc1	T	C	6: 87,730,990	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,227,709	L367*	probably null	Het
Eml2	T	A	7: 19,206,141	L627*	probably null	Het
F13b	A	G	1: 139,507,695	T193A	probably benign	Het
Hif3a	G	A	7: 17,042,635	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,816,676	I150N	probably damaging	Het
Man2b2	G	A	5: 36,810,313	H904Y	probably damaging	Het
Midn	A	G	10: 80,155,322	T389A	possibly damaging	Het
Naglu	T	C	11: 101,071,899	Y177H	probably damaging	Het
Nek1	T	A	8: 61,130,145	D1272E	probably benign	Het
Nxn	A	T	11: 76,261,552	V372E	probably damaging	Het
Obscn	G	A	11: 59,093,416	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,261,373	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,929,441	N920S		Het
Pkd1l3	C	A	8: 109,633,315	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,710,185	E133*	probably null	Het
Qser1	G	A	2: 104,789,514	L228F	probably damaging	Het
Rasa3	A	G	8: 13,614,605	I69T	possibly damaging	Het
Rb1	A	T	14: 73,269,137	S391T	probably damaging	Het
Rnf220	T	C	4: 117,296,136	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,899,328	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,960,616	K580E	probably damaging	Het
Stard4	T	C	18: 33,205,324	Y111C	unknown	Het
Tagap	C	A	17: 7,933,590	Q536K	possibly damaging	Het
Tank	T	C	2: 61,650,169	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,521,734	M144L	probably benign	Het
Tdrd9	T	C	12: 111,985,042	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,968,439	T1373K	probably benign	Het
Tle1	G	A	4: 72,137,112	P434L	probably damaging	Het
Tmed5	A	G	5: 108,124,629	V201A	probably benign	Het
Ust	A	G	10: 8,390,886		probably null	Het
Vmn2r94	T	C	17: 18,257,505	T215A	probably benign	Het
Zfp273	A	T	13: 67,825,132	Q126H	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
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
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'- TCTGTATTTGAGCCAGACTTTGC -3'
(R):5'- GCTAAGGACACAATTACACCTGAAG -3'

Sequencing Primer
(F):5'- TTGAGCCAGACTTTGCTAACAGC -3'
(R):5'- GACACAATTACACCTGAAGATCCTTC -3'

Posted On

2019-10-07