Mutagenetix > Incidental Mutation

Incidental Mutation 'R7921:Myo19'

648388

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: 0.172) question?

Stock #

R7921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84908238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 799 (T799I)

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: T799I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: T799I

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (84/88)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,677,995	M1426R	probably benign	Het
Adh7	A	T	3: 138,224,010	Y149F	probably damaging	Het
Ankdd1b	C	A	13: 96,424,780	V319F	possibly damaging	Het
Ankrd13d	T	C	19: 4,271,030	D483G	probably damaging	Het
Anks4b	A	T	7: 120,182,769	E341V	probably benign	Het
Aqp12	A	G	1: 93,012,008	H253R	probably benign	Het
Atp2c1	A	G	9: 105,414,687	I892T	probably damaging	Het
Atp8b3	A	T	10: 80,530,603	N275K	probably damaging	Het
Carmil2	C	A	8: 105,691,104	N610K	probably damaging	Het
Cd96	GCCCAAAC	G	16: 46,038,480		probably null	Het
Cdh10	A	T	15: 18,991,956	I434F	probably damaging	Het
Celf1	A	T	2: 90,998,747	Q53L	probably benign	Het
Cers4	T	A	8: 4,515,704	V50E	probably damaging	Het
Chd9	T	C	8: 91,042,281		probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Ckap5	A	G	2: 91,548,940	Y75C	probably damaging	Het
Cndp1	A	G	18: 84,622,258	M274T	probably benign	Het
Col22a1	A	T	15: 71,981,962		probably null	Het
Col24a1	G	T	3: 145,474,238	G1162C	probably damaging	Het
Cr2	A	T	1: 195,151,667	L938Q	possibly damaging	Het
Cubn	G	A	2: 13,424,727	T1321I	probably benign	Het
Cyp3a44	G	A	5: 145,791,688	P242L	probably damaging	Het
Ddx4	A	T	13: 112,601,507	D539E	probably benign	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dgkd	G	T	1: 87,924,084	V403L	probably damaging	Het
Dnah2	T	A	11: 69,520,834	M321L	probably benign	Het
Dpy19l1	A	T	9: 24,422,338	M433K	possibly damaging	Het
Enoph1	A	G	5: 100,061,133	K116E	probably benign	Het
Exd1	C	A	2: 119,530,099	C174F	probably damaging	Het
Exoc7	A	T	11: 116,297,682		probably null	Het
Fam183b	T	C	11: 58,801,781	H40R	possibly damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Farp2	G	C	1: 93,567,515		probably null	Het
Fbxo22	A	T	9: 55,218,353	I167L	probably benign	Het
Fchsd2	A	G	7: 101,250,542	N365S	probably benign	Het
Fgr	T	G	4: 132,986,521		probably null	Het
Fkbp9	A	G	6: 56,851,385	D194G	probably damaging	Het
Flnb	T	C	14: 7,933,800	S2152P	possibly damaging	Het
Flnc	A	G	6: 29,447,770	I1191V	possibly damaging	Het
Fpr-rs7	A	T	17: 20,113,405	N274K	probably benign	Het
Fuca1	A	G	4: 135,929,910	D211G	probably damaging	Het
Glb1l2	C	T	9: 26,773,968		probably null	Het
Gm13088	T	C	4: 143,656,565	E28G	probably damaging	Het
Gm48552	T	C	10: 81,390,992	*136R	probably null	Het
Hdgfl2	T	C	17: 56,093,724		probably null	Het
Icmt	T	G	4: 152,303,158	V270G	probably damaging	Het
Icosl	A	T	10: 78,073,740	D173V	probably benign	Het
Icosl	G	A	10: 78,073,952	V244I	probably benign	Het
Iqsec1	C	T	6: 90,667,941	R903H	probably damaging	Het
Lrtm2	G	A	6: 119,317,367	P268S	possibly damaging	Het
Methig1	T	A	15: 100,353,370	L54Q	probably benign	Het
Mga	T	A	2: 119,919,678	L686H	probably damaging	Het
Mki67	A	T	7: 135,695,204	S2700R	probably benign	Het
Muc16	T	A	9: 18,659,318	D635V	unknown	Het
Muc4	G	A	16: 32,751,321	V400I	possibly damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Myh8	T	C	11: 67,283,818	I253T	probably damaging	Het
Myo15b	A	T	11: 115,887,178	K852*	probably null	Het
Naca	T	G	10: 128,043,049	S1317A	unknown	Het
Nipa1	T	C	7: 55,979,810	Y185C	probably damaging	Het
Nlrc5	T	A	8: 94,487,664	N910K	probably damaging	Het
Nucks1	G	T	1: 131,910,736	M1I	probably null	Het
Nudt13	T	C	14: 20,304,072	V68A	probably benign	Het
Oacyl	A	T	18: 65,725,383	M260L	probably benign	Het
Olfr106-ps	C	T	17: 37,395,442	L301F	possibly damaging	Het
Olfr524	A	T	7: 140,202,299	I157N	probably damaging	Het
Olfr586	A	T	7: 103,122,428	S115T	probably damaging	Het
Osbpl6	A	G	2: 76,585,097	N601S	probably damaging	Het
Pcdh9	A	G	14: 93,015,565	S1221P	probably benign	Het
Pcdhb16	T	C	18: 37,478,245	L86P	probably damaging	Het
Pclo	A	C	5: 14,669,234	Q1128H	unknown	Het
Pcnx2	T	A	8: 125,837,863	Y1097F	probably benign	Het
Per1	T	A	11: 69,100,779	D46E	probably damaging	Het
Plce1	T	A	19: 38,620,553	D435E	probably benign	Het
Prkaa1	C	A	15: 5,177,151	Q461K	probably damaging	Het
Proc	C	T	18: 32,123,417	G399D	probably damaging	Het
Rbak	G	T	5: 143,174,262	S345R	probably damaging	Het
Rsph3b	T	C	17: 6,905,091	I325V	probably benign	Het
Sbf1	A	T	15: 89,306,223	L323Q	probably damaging	Het
Scd3	G	A	19: 44,235,892	R188H	possibly damaging	Het
Setdb1	T	G	3: 95,326,399	N1067H	possibly damaging	Het
Spopl	G	A	2: 23,545,478	T15I	probably benign	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stk39	A	G	2: 68,307,039		probably null	Het
Syt13	G	T	2: 92,953,646	M420I	probably damaging	Het
Tas1r1	A	T	4: 152,028,661	I645N	possibly damaging	Het
Tbx3	A	T	5: 119,680,869	Q523L	possibly damaging	Het
Tbx3	G	T	5: 119,680,870	Q523H	probably benign	Het
Tcf23	C	T	5: 30,970,150	Q99*	probably null	Het
Tfip11	T	A	5: 112,335,576	M619K	probably benign	Het
Tg	A	T	15: 66,683,793	H778L	probably benign	Het
Utp3	A	G	5: 88,554,896	S95G	probably benign	Het
Zfp458	T	A	13: 67,256,116	*753L	probably null	Het
Zfp9	T	C	6: 118,465,071	Y210C	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
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
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'- GTTAGAGCTCCCAGTCTAAGGC -3'
(R):5'- TCTGTGAGCTGCCAGTATGC -3'

Sequencing Primer
(F):5'- TACCATATGCATGCAGGTGC -3'
(R):5'- GCTGCCAGTATGCCCACAC -3'

Posted On

2020-09-15