Mutagenetix > Incidental Mutations

Incidental Mutation 'R5284:Myo19'

402951

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

042841-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R5284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 84885272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020837] [ENSMUST00000093969] [ENSMUST00000108080]

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000020837
AA Change: L28Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: L28Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: L28Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: L28Q

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

probably null
Transcript: ENSMUST00000108080

SMART Domains

Protein: ENSMUSP00000103715
Gene: ENSMUSG00000045140

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	62	95	N/A	INTRINSIC
transmembrane domain	134	152	N/A	INTRINSIC
transmembrane domain	162	181	N/A	INTRINSIC
transmembrane domain	202	219	N/A	INTRINSIC
transmembrane domain	232	254	N/A	INTRINSIC
transmembrane domain	261	280	N/A	INTRINSIC
Pfam:GWT1	300	462	1.6e-36	PFAM
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141705

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,981,059	Q1259L	probably benign	Het
AI314180	C	T	4: 58,836,172	E723K	possibly damaging	Het
Arhgef26	T	C	3: 62,419,631	S522P	probably damaging	Het
Asic5	C	T	3: 82,008,523	P218L	probably damaging	Het
Atad1	T	C	19: 32,687,271	M248V	probably benign	Het
Bank1	T	C	3: 136,064,154	D522G	probably damaging	Het
Bod1l	G	A	5: 41,820,467	S1168L	probably benign	Het
Cactin	A	G	10: 81,323,762	D51G	probably damaging	Het
Camkk1	A	G	11: 73,037,555	D261G	probably benign	Het
Cep152	A	G	2: 125,580,021	S930P	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Crim1	A	T	17: 78,313,266	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,522,682		probably null	Het
Dhdds	A	G	4: 133,980,212	V187A	probably benign	Het
Egfem1	A	G	3: 29,650,787	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,763,344		probably null	Het
Ep400	A	G	5: 110,668,124	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,798,800	T581S	probably damaging	Het
Erg	C	T	16: 95,459,243	M1I	probably null	Het
Fastkd1	T	C	2: 69,712,188	T92A	probably benign	Het
Gabpb1	T	C	2: 126,652,357	H116R	possibly damaging	Het
Gucy2c	A	G	6: 136,763,043	L262P	possibly damaging	Het
Ifi203	C	T	1: 173,928,708		probably benign	Het
Kcnk13	A	C	12: 100,061,289	I208L	probably benign	Het
Klhl7	A	G	5: 24,159,617	T550A	probably benign	Het
Krtap12-1	G	T	10: 77,720,965	C114F	possibly damaging	Het
Myh7b	A	G	2: 155,632,314	T1650A	probably benign	Het
Nav1	C	T	1: 135,449,963	W1656*	probably null	Het
Nup188	A	T	2: 30,330,635	S907C	probably damaging	Het
Olfr212	T	A	6: 116,516,552	Y258*	probably null	Het
Oplah	A	T	15: 76,306,559	H125Q	probably benign	Het
Pcnx	A	T	12: 81,919,029	T657S	probably benign	Het
Phf14	C	A	6: 11,997,120	Q796K	probably damaging	Het
Plaa	T	C	4: 94,569,637	I699V	probably benign	Het
Prex2	C	A	1: 11,266,090	S1504*	probably null	Het
Prpf18	G	A	2: 4,645,670	Q50*	probably null	Het
Rnf213	A	G	11: 119,458,866	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,149,276	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,586,420	S487P	probably damaging	Het
Setdb1	G	T	3: 95,327,570	R941S	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Smg8	G	A	11: 87,080,311	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,279,947	V440E	probably damaging	Het
Tsen15	A	G	1: 152,371,873	S123P	probably damaging	Het
Tspan12	G	T	6: 21,835,467	A69D	probably damaging	Het
Ubiad1	G	A	4: 148,436,498	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,409,445	K90*	probably null	Het
Wdr19	C	T	5: 65,225,409	T492I	probably damaging	Het
Zfp423	C	T	8: 87,781,677	D659N	possibly damaging	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
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
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'- CCCATAACCTGGTAGTTGAGTTTATC -3'
(R):5'- TCAGGAGTCTCAATTCGTGGTC -3'

Sequencing Primer
(F):5'- TGAAACTTGAGCCACCTGG -3'
(R):5'- TTCGTGGTCTCAACTGAGGAAACC -3'

Posted On

2016-07-22