Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Myo19'

548080

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: 0.145) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84907368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 738 (C738F)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093969
AA Change: C738F

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: C738F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (87/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,626,130	I419T	possibly damaging	Het
Afap1	T	C	5: 35,962,260	V294A	probably benign	Het
Amotl1	T	A	9: 14,575,236	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,900,791	S961G	probably damaging	Het
Asxl3	A	G	18: 22,517,674	K907E	probably damaging	Het
BC028528	A	T	3: 95,885,011	L137I	possibly damaging	Het
Cand1	A	T	10: 119,211,754	N610K	probably benign	Het
Cat	A	G	2: 103,474,353	I109T	probably benign	Het
Ccdc18	T	C	5: 108,193,798	V853A	probably benign	Het
Chd4	C	A	6: 125,108,442	D805E	possibly damaging	Het
Cnih1	A	C	14: 46,780,195	F77V	probably damaging	Het
Cntd1	A	T	11: 101,287,426	I284F	probably damaging	Het
Col6a3	C	A	1: 90,828,037	E177*	probably null	Het
Cpxm2	T	A	7: 132,143,679	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,677,242	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,835,374	S294P	probably damaging	Het
Dchs1	A	G	7: 105,757,021	C2335R	probably benign	Het
Disc1	G	T	8: 125,250,985	C719F	probably damaging	Het
Dnah14	A	C	1: 181,698,049	D2180A	probably benign	Het
Dopey2	G	A	16: 93,776,990	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,592,275	H481L	probably benign	Het
Epha6	A	G	16: 59,682,650	S965P	probably damaging	Het
Esrrg	G	T	1: 188,150,306	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,854,722	K438R	probably damaging	Het
Fam98a	C	A	17: 75,538,389	R454L	unknown	Het
Fam98c	A	T	7: 29,155,883		probably null	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Galnt13	A	G	2: 55,098,575	T470A	probably damaging	Het
Ggt7	A	T	2: 155,503,095		probably null	Het
Golim4	T	C	3: 75,878,650	E606G	probably damaging	Het
Gpd2	G	A	2: 57,307,100		probably null	Het
Grin2b	T	C	6: 135,780,306	M386V	probably damaging	Het
Hfm1	A	T	5: 106,911,440	S239T	probably benign	Het
Hmcn1	G	A	1: 150,773,890	T615I	probably benign	Het
Hook2	G	A	8: 84,997,411	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,857,815		probably null	Het
Igsf9b	A	G	9: 27,322,854	Y421C	probably damaging	Het
Il21	A	G	3: 37,232,480	L29P	probably damaging	Het
Ildr1	A	G	16: 36,722,368	S421G	probably benign	Het
Kat2b	C	A	17: 53,665,866	T736K	probably benign	Het
Kcng1	A	G	2: 168,262,609	V439A	probably damaging	Het
Kif21a	A	T	15: 90,948,903		probably null	Het
Lat	A	G	7: 126,369,146		probably null	Het
Mastl	T	A	2: 23,133,413	K433*	probably null	Het
Mettl2	A	G	11: 105,128,893	R119G	probably benign	Het
Mia2	C	T	12: 59,184,235	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,586,674	D133E	probably benign	Het
Mslnl	A	G	17: 25,743,212	T195A	probably benign	Het
Muc16	T	G	9: 18,639,755	T5081P	probably benign	Het
Mylpf	G	C	7: 127,213,967	R110P	probably damaging	Het
Nat8f4	T	A	6: 85,901,289	N84I	possibly damaging	Het
Nol8	C	T	13: 49,676,386	R1104C	probably damaging	Het
Notch1	A	T	2: 26,463,818	D1932E	probably benign	Het
Nsun3	A	T	16: 62,776,300	C152S	possibly damaging	Het
Olfr116	A	G	17: 37,623,706	F310L	probably benign	Het
Opcml	G	A	9: 28,675,211	W75*	probably null	Het
Pcdh7	G	A	5: 57,722,240	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,403,281	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,851,352	L551S	probably damaging	Het
Plaa	G	A	4: 94,569,823	Q637*	probably null	Het
Plekhh1	A	T	12: 79,075,430	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 65,829,500	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,484,513	V554A	probably damaging	Het
Rab44	A	G	17: 29,138,176		probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rasgrf2	T	C	13: 91,886,402	T1119A	probably damaging	Het
Rims2	A	G	15: 39,585,648	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,297,230	C280S	probably damaging	Het
Sde2	T	C	1: 180,866,262	F439S	probably damaging	Het
Setd5	T	C	6: 113,115,571	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,403,122	E1106G	probably benign	Het
Sis	T	G	3: 72,903,607	S1694R	probably damaging	Het
Smad9	T	A	3: 54,786,193	F181Y	probably benign	Het
Smg1	A	G	7: 118,198,279		probably benign	Het
Sspo	T	C	6: 48,448,582	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,478,109	M940T	unknown	Het
Tmem44	G	T	16: 30,547,395	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,156,950	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,431,566	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,818,827		probably benign	Het
Usp28	T	A	9: 49,039,156	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 22,851,893	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,615,795	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,923,828	L1580P	probably benign	Het
Vrk3	C	A	7: 44,768,466	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,307,404	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,755,545	M283K	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
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'- TCTAGAACTGCAAGAACAAGGC -3'
(R):5'- TGTAGCTCTGTGGTATAGTACTTAC -3'

Sequencing Primer
(F):5'- CAGTGTCTTCAGGCTACAGAGTC -3'
(R):5'- ACAGGTGTGGACACTACCCTTG -3'

Posted On

2019-05-13