Mutagenetix > Incidental Mutation

Incidental Mutation 'R5558:Myo19'

436419

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

043115-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R5558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 84910448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 940 (P940R)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: P940R

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

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: P940R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156046

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	C	3: 88,693,096	H164P	probably damaging	Het
Abcg4	T	C	9: 44,281,408	K177E	probably damaging	Het
Acvr1	T	C	2: 58,459,017	T378A	probably damaging	Het
Agtpbp1	A	G	13: 59,482,580	V779A	probably benign	Het
Alms1	C	T	6: 85,641,329	Q2786*	probably null	Het
Arhgef28	A	C	13: 97,961,460	L882R	probably damaging	Het
Cbx2	A	G	11: 119,028,949	T447A	probably benign	Het
Ch25h	A	G	19: 34,474,463	W222R	probably damaging	Het
Chsy3	T	G	18: 59,176,397	S241A	probably damaging	Het
Cyfip1	T	C	7: 55,892,001	S345P	possibly damaging	Het
Cyp4a30b	C	A	4: 115,458,866	D291E	probably damaging	Het
Dcstamp	A	G	15: 39,759,540	Y419C	probably damaging	Het
Eif3d	G	A	15: 77,961,847	R359C	probably damaging	Het
Elavl4	C	A	4: 110,206,603	G267V	probably benign	Het
Gars	T	C	6: 55,065,607	S442P	probably damaging	Het
Gas6	C	T	8: 13,466,764	R578Q	probably null	Het
Hist1h4d	C	A	13: 23,581,796	N65K	possibly damaging	Het
Ifitm6	T	C	7: 141,016,072	I103V	probably benign	Het
Igsf5	T	A	16: 96,386,531	I241N	possibly damaging	Het
Iqce	A	G	5: 140,671,805		probably null	Het
Kif20b	C	A	19: 34,951,549	Q1192K	probably damaging	Het
Lap3	A	G	5: 45,504,751	N298D	probably benign	Het
Lca5	A	T	9: 83,401,743	S246T	probably damaging	Het
Mrps5	G	A	2: 127,602,435	G330S	probably damaging	Het
Myh15	C	T	16: 49,069,537	R164C	probably benign	Het
Olfr1406	T	C	1: 173,184,018	R139G	probably benign	Het
Olfr1445	T	C	19: 12,884,387	F169L	probably benign	Het
Pcdh10	A	G	3: 45,384,168	D920G	probably damaging	Het
Pgm5	A	T	19: 24,824,451		probably null	Het
Phactr4	T	C	4: 132,378,455	E137G	probably damaging	Het
Pkn1	C	T	8: 83,684,722	V239M	probably damaging	Het
Plcz1	T	A	6: 140,039,755	D20V	probably damaging	Het
Prkca	A	T	11: 107,981,647	I429N	probably damaging	Het
Ptk2	A	T	15: 73,304,445	Y251N	probably damaging	Het
R3hdm2	T	C	10: 127,444,402	F31S	probably damaging	Het
Rab11fip1	T	A	8: 27,151,975	E932V	probably damaging	Het
Rilp	A	G	11: 75,511,425	Y250C	probably damaging	Het
Sclt1	A	G	3: 41,661,590	I474T	probably benign	Het
Slc14a2	T	A	18: 78,159,166	D583V	possibly damaging	Het
Slc30a4	A	G	2: 122,686,983	I324T	probably damaging	Het
Slc6a5	G	A	7: 49,927,573	V326I	probably benign	Het
Slco1c1	C	T	6: 141,567,496	T617I	probably damaging	Het
Sntg1	A	G	1: 8,414,271	S442P	possibly damaging	Het
Sys1	G	T	2: 164,464,509	A128S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tmed5	A	G	5: 108,124,596	I212T	probably benign	Het
Tnks	T	C	8: 34,965,665	M1V	probably null	Het
Trpa1	T	C	1: 14,898,268	H452R	probably damaging	Het
Trpm3	T	C	19: 22,978,573	V1133A	probably damaging	Het
Ttn	T	A	2: 76,725,051	I30537F	probably damaging	Het
Ush2a	T	C	1: 188,797,827	V3271A	possibly damaging	Het
Utp20	C	G	10: 88,751,467	G2489R	probably damaging	Het
Vmn1r70	A	T	7: 10,634,475	S278C	probably benign	Het
Wdpcp	G	A	11: 21,711,732	A335T	probably benign	Het
Zc3h18	G	T	8: 122,386,920	R217L	probably damaging	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,036,509		probably benign	Het
Zfp955b	C	T	17: 33,302,187	T210I	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
R5284:Myo19	UTSW	11	84885272	splice site	probably null
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'- TCCCTGAAATCAACAAGGGG -3'
(R):5'- TGGGAATAGCTTGGCACTTG -3'

Sequencing Primer
(F):5'- AGAAGTGTTCTGATCTTCCAGC -3'
(R):5'- CACTTGCGTGTGGGATCTAATGTC -3'

Posted On

2016-10-24