Mutagenetix > Incidental Mutation

Incidental Mutation 'R5739:Myo19'

444705

Institutional Source

Beutler Lab

Gene Symbol

Myo19

Ensembl Gene

ENSMUSG00000020527

Gene Name

myosin XIX

Synonyms

Myohd1, 1110055A02Rik

MMRRC Submission

043351-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R5739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84897624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 354 (I354T)

Ref Sequence

ENSEMBL: ENSMUSP00000091502 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

probably benign
Transcript: ENSMUST00000020837

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: I354T

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

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: I354T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174903

Meta Mutation Damage Score

0.6715

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,520,541	V356E	possibly damaging	Het
4931429L15Rik	A	T	9: 46,309,419	S50T	probably benign	Het
A930011G23Rik	A	G	5: 99,221,430	L529P	probably damaging	Het
Acer2	A	T	4: 86,900,555	N147Y	probably damaging	Het
Adamtsl1	A	G	4: 86,232,664	E353G	probably damaging	Het
Alg6	T	C	4: 99,744,500	F60L	probably benign	Het
Ano6	A	T	15: 95,913,379	D120V	probably damaging	Het
Armc3	A	G	2: 19,253,917	D265G	possibly damaging	Het
Arntl	G	A	7: 113,285,031	R92Q	probably damaging	Het
Aurkc	A	T	7: 7,002,860	Y249F	probably benign	Het
Cacna2d2	A	G	9: 107,512,329	I274V	probably benign	Het
Camk2n2	C	A	16: 20,621,080	G39C	probably damaging	Het
Ccdc39	A	G	3: 33,826,561	L419P	possibly damaging	Het
Cdh23	T	C	10: 60,305,609	M3117V	probably damaging	Het
Celsr3	A	G	9: 108,827,158	E280G	probably benign	Het
Cherp	TGCTGGTGGTGGGG	TG	8: 72,467,815		probably benign	Het
Clcn6	A	G	4: 148,014,189	V494A	probably damaging	Het
Col19a1	C	T	1: 24,337,915	G450S	probably damaging	Het
Crb2	T	G	2: 37,793,654	V1056G	probably damaging	Het
Crtac1	A	G	19: 42,302,173	F363S	probably damaging	Het
Dnaaf2	T	C	12: 69,196,941	S449G	probably benign	Het
Dnah7b	A	T	1: 46,233,992	I2427F	probably damaging	Het
Dnah8	T	A	17: 30,719,007	D1619E	probably benign	Het
Dock3	A	T	9: 106,973,796	S836T	possibly damaging	Het
Donson	A	T	16: 91,681,229		probably null	Het
Drc3	G	A	11: 60,375,130	R215H	possibly damaging	Het
Entpd2	T	C	2: 25,399,492	S329P	possibly damaging	Het
Eya2	T	C	2: 165,761,937	S332P	probably damaging	Het
Fam83f	T	A	15: 80,692,005	Y286N	probably damaging	Het
Fat4	T	C	3: 38,983,134	V3645A	probably benign	Het
G2e3	T	C	12: 51,372,504	F668L	possibly damaging	Het
Gm14403	T	A	2: 177,509,247	C329S	probably damaging	Het
Hmcn1	G	A	1: 150,808,697	T374I	probably benign	Het
Hmcn1	A	T	1: 150,758,474		probably null	Het
Hrnr	T	C	3: 93,323,129	S225P	unknown	Het
Ifi202b	C	T	1: 173,971,352		probably null	Het
Il10ra	A	T	9: 45,256,070	D394E	possibly damaging	Het
Itga2b	A	T	11: 102,465,909	D275E	probably benign	Het
Jaml	A	T	9: 45,088,728	D108V	probably damaging	Het
Kir3dl1	G	A	X: 136,526,482	D56N	probably damaging	Het
Lrrtm1	T	C	6: 77,244,889	V443A	probably damaging	Het
Mkln1	T	A	6: 31,496,702	S126R	probably benign	Het
Nucb1	A	T	7: 45,501,660	L99Q	probably damaging	Het
Olfr1312	A	G	2: 112,042,783	F83S	probably damaging	Het
Pask	A	G	1: 93,322,056	S541P	probably benign	Het
Pdpr	A	T	8: 111,134,620	I749F	possibly damaging	Het
Phyhipl	T	C	10: 70,559,569	D269G	possibly damaging	Het
Pkdcc	A	G	17: 83,215,794	D110G	probably benign	Het
Ppox	A	G	1: 171,279,996	L115P	probably damaging	Het
Ppp1r12c	A	G	7: 4,497,282	L94P	probably damaging	Het
Ppp6r2	T	A	15: 89,259,073	M141K	probably benign	Het
Prl3d1	A	T	13: 27,100,012	H188L	probably benign	Het
Psmb3	T	A	11: 97,713,470		probably benign	Het
Pxdn	T	A	12: 29,982,334	S150T	probably benign	Het
Ripor3	T	C	2: 167,981,283	T903A	probably damaging	Het
Rnase4	T	C	14: 51,104,849	L10S	probably benign	Het
Rnf224	T	C	2: 25,236,000	T114A	probably benign	Het
Rp1l1	A	T	14: 64,032,170	E1735V	probably benign	Het
Rrp1b	T	A	17: 32,045,976	Y60N	probably damaging	Het
Rsbn1l	A	T	5: 20,905,816	V508E	probably damaging	Het
Rubcnl	T	C	14: 75,040,941		probably null	Het
Rxfp4	A	G	3: 88,651,902		probably benign	Het
Sdccag8	A	G	1: 176,826,231	T85A	probably benign	Het
Slc46a1	A	T	11: 78,467,149	I343F	possibly damaging	Het
Ssh2	A	G	11: 77,449,813	D597G	probably damaging	Het
Syne2	T	A	12: 75,997,465	V3942E	possibly damaging	Het
Timd4	T	C	11: 46,817,746	S200P	probably benign	Het
Tmc5	G	A	7: 118,666,611		probably null	Het
Tmem8	T	A	17: 26,120,451	F580I	probably damaging	Het
Trbv16	A	G	6: 41,152,079	T66A	probably benign	Het
Ttc3	A	T	16: 94,439,324	K1103*	probably null	Het
Ttc7b	A	G	12: 100,384,233	V458A	probably damaging	Het
Ubxn10	A	G	4: 138,720,823	S181P	probably benign	Het
Vmn2r11	A	G	5: 109,059,248		probably null	Het
Vmn2r26	A	T	6: 124,025,966	N112Y	probably benign	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Zc3h10	T	C	10: 128,544,801	N229S	probably benign	Het
Zfp407	T	C	18: 84,208,742	*2247W	probably null	Het
Zfyve1	C	A	12: 83,575,136	V162L	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
R5558:Myo19	UTSW	11	84910448	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'- AATCAGAGTCGGGTGGCTTG -3'
(R):5'- CTCACAATGTTTGGTCCAACCC -3'

Sequencing Primer
(F):5'- AACACTGTGACTTCAAGTCCTG -3'
(R):5'- ATGTTTGGTCCAACCCTACACAGG -3'

Posted On

2016-11-21