Mutagenetix > Incidental Mutation

Incidental Mutation 'R7923:Myo19'

648567

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: 0.161) question?

Stock #

R7923 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84880148-84911226 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84885710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 64 (F64C)

Ref Sequence

ENSEMBL: ENSMUSP00000020837 (fasta)

Gene Model

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

AlphaFold

Q5SV80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020837
AA Change: F64C

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: F64C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093969
AA Change: F64C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: F64C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 72,444,911	T54M	probably damaging	Het
4932443I19Rik	A	C	8: 13,738,456	H140P	unknown	Het
Aacs	T	A	5: 125,511,884	S409T	probably damaging	Het
Atf6	T	C	1: 170,794,706	M449V	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
Bcl11a	G	T	11: 24,163,680	R341M	probably damaging	Het
Brf2	G	A	8: 27,124,190	Q323*	probably null	Het
Bscl2	T	C	19: 8,847,519	V322A	probably benign	Het
Btnl9	T	C	11: 49,180,738	Y86C	probably damaging	Het
C4b	T	A	17: 34,742,380	I202F	probably damaging	Het
Cbfb	T	A	8: 105,194,593		probably null	Het
Cc2d2b	T	A	19: 40,806,849	Y963N	possibly damaging	Het
Cep135	A	T	5: 76,609,692	D391V	possibly damaging	Het
Col12a1	A	G	9: 79,678,493	V1228A	probably benign	Het
Cr2	T	A	1: 195,168,687	Y157F	probably benign	Het
Creg2	C	T	1: 39,650,903	G13E	probably benign	Het
Cul5	G	T	9: 53,624,166	A595E	probably benign	Het
Cyp4f16	A	G	17: 32,546,747	E368G	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Eps15	G	A	4: 109,315,872	D177N	possibly damaging	Het
Erbb4	C	T	1: 68,259,209	R684H	probably damaging	Het
Ermp1	C	T	19: 29,628,658	V419I	probably benign	Het
Foxi3	T	C	6: 70,960,716	S311P	probably benign	Het
Fras1	C	T	5: 96,739,318	A2653V	probably damaging	Het
Gbp3	A	T	3: 142,567,612	N307Y	probably damaging	Het
Ggcx	G	A	6: 72,427,917	R436Q	probably damaging	Het
Gimap3	A	T	6: 48,765,627	V123D	probably benign	Het
Gm14326	A	T	2: 177,945,887	Y439N	probably damaging	Het
Gm4756	G	T	12: 72,619,358	Q180K	probably benign	Het
Gm5591	A	G	7: 38,521,914	S244P	probably benign	Het
Gm9507	A	T	10: 77,811,537	C103S	unknown	Het
Guf1	G	A	5: 69,561,159	V214I	probably benign	Het
Ido2	T	C	8: 24,576,193	Y19C	probably damaging	Het
Idua	T	C	5: 108,680,583	S268P	probably damaging	Het
Igf1r	T	C	7: 68,190,101	Y719H	probably damaging	Het
Itgb4	A	T	11: 115,982,699		probably null	Het
Kctd19	T	A	8: 105,385,058	T868S	probably damaging	Het
Lonrf2	A	T	1: 38,800,762	H417Q	probably benign	Het
Lrp2	T	C	2: 69,438,388	T4184A	possibly damaging	Het
Mapk15	T	C	15: 75,996,446	F219S	probably damaging	Het
Myh7b	A	T	2: 155,625,966	Y808F	probably benign	Het
Mysm1	A	T	4: 94,961,765	V434D	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nbeal2	A	T	9: 110,631,446	Y1780*	probably null	Het
Ndc80	A	T	17: 71,496,301	M615K	probably benign	Het
Nfkbib	C	A	7: 28,766,263	V54F	probably damaging	Het
Npy5r	A	G	8: 66,681,752	F130L	probably damaging	Het
Nt5c3	T	C	6: 56,883,042	E304G	probably benign	Het
Odaph	A	G	5: 91,994,699	D40G	possibly damaging	Het
Olfr1389	C	T	11: 49,430,605	T43I	probably benign	Het
Olfr1469	T	C	19: 13,410,818	M83T	probably benign	Het
Olfr695	T	A	7: 106,714,442	K80*	probably null	Het
Olfr974	A	T	9: 39,942,967	K236*	probably null	Het
Palm3	T	A	8: 84,029,461	I534K	probably benign	Het
Pde10a	A	G	17: 8,929,132	N89S	probably benign	Het
Piezo1	T	C	8: 122,496,444	K870E		Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Pnpla6	T	A	8: 3,531,737	Y662*	probably null	Het
Proser3	A	T	7: 30,549,661	F2Y	possibly damaging	Het
Psma5	A	G	3: 108,265,129	I54V	probably benign	Het
Qrich2	C	A	11: 116,457,337	G887V	probably damaging	Het
Rdx	A	G	9: 52,065,901	D150G	possibly damaging	Het
Reln	C	T	5: 22,134,692	V221I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Samd14	A	G	11: 95,023,458		probably null	Het
Scimp	A	T	11: 70,791,515	I125N	possibly damaging	Het
Sec23a	A	G	12: 58,992,247	F289L	probably damaging	Het
Sipa1l3	G	A	7: 29,339,146	Q1408*	probably null	Het
Skor2	T	C	18: 76,858,721	L46P	unknown	Het
Slc12a1	A	T	2: 125,214,092	I848F	possibly damaging	Het
Slc47a1	A	G	11: 61,363,403	L211P	probably damaging	Het
Slc7a10	T	C	7: 35,195,129	V71A	probably damaging	Het
Smco1	C	A	16: 32,274,047	Q179K	possibly damaging	Het
Smg1	A	G	7: 118,143,322	L3223P	possibly damaging	Het
Smpdl3a	T	C	10: 57,801,045	S80P	probably damaging	Het
Spire2	A	G	8: 123,332,987	R75G	probably benign	Het
Sptbn2	T	A	19: 4,746,799	H1808Q	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Ssfa2	G	T	2: 79,662,615	E1169*	probably null	Het
Supv3l1	T	C	10: 62,445,081	D177G	probably damaging	Het
Syne1	C	T	10: 5,264,738	E3215K	probably damaging	Het
Szt2	A	G	4: 118,373,840	V2548A	unknown	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Washc2	A	G	6: 116,226,424	E384G	possibly damaging	Het
Zfp712	T	A	13: 67,042,185	N93Y	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
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
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'- ATTGAGACTCCTGACCTGGC -3'
(R):5'- TGTTGAGCTAGGACATGGC -3'

Sequencing Primer
(F):5'- GGGACTCGTCTTAATTAGATCTTATG -3'
(R):5'- TTGAGCTAGGACATGGCACCAATAG -3'

Posted On

2020-09-15