Mutagenetix > Incidental Mutations

Incidental Mutation 'R4335:Myo19'

323744

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R4335 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84908288 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 816 (A816T)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093969] [ENSMUST00000103195]

Predicted Effect

probably benign
Transcript: ENSMUST00000093969
AA Change: A816T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: A816T

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 benign
Transcript: ENSMUST00000103195

SMART Domains

Protein: ENSMUSP00000099484
Gene: ENSMUSG00000020526

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	7	36	9.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144552

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,544,370	L710P	probably damaging	Het
Abca9	G	A	11: 110,152,017	T402M	probably damaging	Het
Apbb1ip	G	A	2: 22,871,562		probably null	Het
Armh1	A	T	4: 117,214,463	I308N	probably damaging	Het
Ceacam5	G	A	7: 17,752,129	R517Q	probably benign	Het
Clic4	C	T	4: 135,218,605	S167N	probably benign	Het
Ehbp1l1	A	T	19: 5,708,769	L1644Q	probably damaging	Het
Erh	A	G	12: 80,642,841	L3P	probably benign	Het
Fam71d	T	C	12: 78,712,232	S109P	possibly damaging	Het
Fbxw7	T	C	3: 84,972,495	C375R	probably damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fsd2	A	T	7: 81,542,065	S521R	probably damaging	Het
Hace1	A	G	10: 45,709,961	Y865C	probably damaging	Het
Iqcf1	G	A	9: 106,501,873	R62H	possibly damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Leng8	T	C	7: 4,147,038	Y781H	probably damaging	Het
Med8	G	T	4: 118,409,370		probably null	Het
Nat8f2	A	G	6: 85,868,251	L43P	probably damaging	Het
Omd	A	C	13: 49,590,236	D254A	probably benign	Het
Psd2	G	T	18: 36,007,530	A622S	probably damaging	Het
Rnf207	G	A	4: 152,315,605		probably benign	Het
Rsbn1l	T	C	5: 20,908,193	I444V	probably null	Het
Rxfp1	A	G	3: 79,686,798		probably null	Het
Selenot	C	A	3: 58,585,301	R70S	possibly damaging	Het
Sox6	A	G	7: 115,512,724	S557P	probably benign	Het
Sp9	G	A	2: 73,274,289	V396M	probably damaging	Het
Ston1	T	C	17: 88,635,697	F177S	probably damaging	Het
Syne2	A	G	12: 76,028,092	E4602G	probably damaging	Het
Tbc1d19	A	G	5: 53,872,277	T327A	possibly damaging	Het
Tsga13	T	C	6: 30,900,045	D179G	probably damaging	Het
Wdr27	T	A	17: 14,920,756		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
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
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'- CAGGAATGACTTTGTACTGACAG -3'
(R):5'- CTGAACTAGACAGACAGGCTC -3'

Sequencing Primer
(F):5'- ACTGACAGAGTGTATCCCTGG -3'
(R):5'- AAACTGAAGCGCCTTGGC -3'

Posted On

2015-06-24