Mutagenetix > Incidental Mutation

Incidental Mutation 'R5083:Myo19'

387269

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

042672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84903211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 654 (A654S)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093969
AA Change: A654S

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: A654S

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	C	T	17: 48,166,390	V120M	possibly damaging	Het
Abca6	T	C	11: 110,218,967	D646G	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,314,018	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,982,826	V824L	probably null	Het
Bet1	T	C	6: 4,077,895	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cfap65	A	G	1: 74,906,441	S1373P	probably damaging	Het
Chd9	T	C	8: 90,984,374	L353P	probably damaging	Het
Chil3	C	A	3: 106,164,089		probably null	Het
Comp	C	T	8: 70,381,300	T655M	probably damaging	Het
Dctd	T	C	8: 48,111,716	Y18H	probably damaging	Het
Ddx39b	G	A	17: 35,253,029	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,471,999	S889R	probably benign	Het
Dtx2	T	C	5: 136,012,190	Y150H	probably damaging	Het
Epx	A	G	11: 87,872,680	F238S	probably damaging	Het
Ergic2	T	C	6: 148,196,014	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734	I184T	probably benign	Het
Esf1	G	T	2: 140,157,071	A495E	possibly damaging	Het
Esf1	T	C	2: 140,158,579	Y429C	possibly damaging	Het
Fcho1	C	A	8: 71,717,176	R101L	probably benign	Het
Foxn4	T	A	5: 114,256,927	D313V	probably damaging	Het
Gm11568	T	C	11: 99,857,972	M1T	probably null	Het
Gm14409	A	G	2: 177,265,571	F45L	probably damaging	Het
Gphn	T	A	12: 78,623,289		probably null	Het
Grid2	C	T	6: 64,320,152	Q500*	probably null	Het
Igsf10	A	G	3: 59,326,273	S1680P	probably damaging	Het
Ints12	T	C	3: 133,100,777	M155T	possibly damaging	Het
Invs	A	T	4: 48,396,307	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,621,362	E180G	probably damaging	Het
Mgat3	G	A	15: 80,211,298	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,643,014	V263A	probably benign	Het
Mroh7	A	T	4: 106,690,318	V1109D	probably benign	Het
Myo15b	A	T	11: 115,866,656	T1111S	probably benign	Het
Mypn	A	T	10: 63,118,528	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,323,294		probably null	Het
Olfr250	G	A	9: 38,368,062	C172Y	possibly damaging	Het
Olfr437	G	T	6: 43,167,339	A94S	probably benign	Het
Olfr676	A	T	7: 105,035,411	Y71F	probably damaging	Het
Pdcd2	A	G	17: 15,522,822	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 116,342,401	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,236,044	T6A	probably benign	Het
Ros1	T	A	10: 52,163,941	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,824,892	H70N	probably damaging	Het
Skint1	A	G	4: 112,029,433	R359G	probably benign	Het
Slc44a5	A	T	3: 154,247,787	I269L	probably benign	Het
Slfn10-ps	T	A	11: 83,030,515		noncoding transcript	Het
Suclg1	C	A	6: 73,263,980	T164K	probably benign	Het
Tgds	C	A	14: 118,116,079		probably null	Het
Ttn	T	C	2: 76,813,533	D13117G	probably damaging	Het
Ttn	T	C	2: 76,870,737		probably benign	Het
Vmn2r28	A	T	7: 5,480,672	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 10,159,465	Y582*	probably null	Het
Vps33b	G	T	7: 80,274,641	K65N	probably 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
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'- CTTAGCTATATGAGGAGCCAGG -3'
(R):5'- TAGGAATGTAGGCCCTACCAGG -3'

Sequencing Primer
(F):5'- GGTTTCTCATGATCCCACAGAGAC -3'
(R):5'- CAGGGCAGAGATTCCACACTG -3'

Posted On

2016-06-06