Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Myo1d'

253483

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2512 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80779717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 26 (M26L)

Ref Sequence

ENSEMBL: ENSMUSP00000066948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041065] [ENSMUST00000070997]

AlphaFold

Q5SYD0

Predicted Effect

probably benign
Transcript: ENSMUST00000041065
AA Change: M26L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: M26L

Domain	Start	End	E-Value	Type
MYSc	3	696	N/A	SMART
IQ	697	719	1.46e-3	SMART
Pfam:Myosin_TH1	803	1006	4.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070997
AA Change: M26L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: M26L

Domain	Start	End	E-Value	Type
MYSc	3	696	N/A	SMART
IQ	697	719	1.46e-3	SMART
Pfam:Myosin_TH1	802	913	1.8e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125944

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	T	C	17: 47,413,726	T60A	probably benign	Het
2700049A03Rik	A	G	12: 71,173,171	T831A	possibly damaging	Het
Actg2	T	A	6: 83,526,847	I72F	probably damaging	Het
Add1	A	G	5: 34,616,686	T80A	probably benign	Het
Alpk2	G	A	18: 65,350,520	T139M	probably damaging	Het
Aplp2	C	T	9: 31,167,677	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917	P140S	probably benign	Het
C87499	T	G	4: 88,628,958	M246L	probably damaging	Het
Carm1	A	G	9: 21,575,412		probably null	Het
Carmil2	A	T	8: 105,697,393	I1293F	probably benign	Het
Cdh8	T	C	8: 99,400,863	T39A	probably benign	Het
Col15a1	T	A	4: 47,245,868	N206K	possibly damaging	Het
Copg2	C	T	6: 30,896,656		probably null	Het
Ctr9	T	G	7: 111,046,871	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,189,035	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,206,512	A187S	possibly damaging	Het
Ddo	T	A	10: 40,632,939	D58E	possibly damaging	Het
Dkkl1	G	T	7: 45,207,733	R137S	probably damaging	Het
Dxo	A	G	17: 34,837,742	N115S	probably benign	Het
Ep400	A	T	5: 110,708,915		probably benign	Het
F11	A	G	8: 45,261,061	V7A	probably benign	Het
Fermt1	G	T	2: 132,939,518		probably null	Het
Fign	A	T	2: 63,979,799	F376I	probably benign	Het
Flg2	G	T	3: 93,201,775	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,556,275	D953E	probably benign	Het
Fsip2	A	T	2: 82,978,167	H1610L	probably benign	Het
Gfra3	T	C	18: 34,704,511	N145D	probably benign	Het
Inpp4b	G	T	8: 82,010,550	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Lgi2	A	G	5: 52,537,965	*543R	probably null	Het
Lyn	A	G	4: 3,745,542	T114A	probably benign	Het
Lynx1	A	G	15: 74,751,320	Y88H	probably damaging	Het
Map4	C	A	9: 110,034,702	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 24,914,703	C250*	probably null	Het
Metap1d	A	G	2: 71,522,610	H261R	probably damaging	Het
Mfrp	T	C	9: 44,102,538	V115A	probably benign	Het
Mtbp	A	G	15: 55,577,536	Y373C	probably damaging	Het
Mtor	C	A	4: 148,530,491	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,859,076	N1920D	unknown	Het
Neb	A	C	2: 52,210,831	D643E	probably damaging	Het
Nme1	A	G	11: 93,960,687	F108L	possibly damaging	Het
Olfr458	A	G	6: 42,460,273	S249P	probably damaging	Het
Olfr893	G	T	9: 38,209,374	C54F	probably damaging	Het
Pan2	T	A	10: 128,304,457	D82E	probably damaging	Het
Pclo	A	G	5: 14,712,598	D3695G	unknown	Het
Pcnx4	A	T	12: 72,556,799		probably null	Het
Plg	A	G	17: 12,403,229	T479A	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ptgis	T	C	2: 167,207,276	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,968,465	T14A	probably benign	Het
Rcc1l	A	T	5: 134,166,669	V230D	probably damaging	Het
Reln	T	C	5: 21,979,690	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ryr1	G	A	7: 29,103,542	L696F	possibly damaging	Het
Sacs	T	A	14: 61,203,080	D858E	probably benign	Het
Sec16a	C	T	2: 26,439,025	V993I	probably benign	Het
Skint5	T	A	4: 113,630,419	I901F	unknown	Het
Slc17a3	A	T	13: 23,846,247	I114F	probably benign	Het
Slc17a7	T	A	7: 45,168,864	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,570,577	S452P	probably damaging	Het
Smarca4	A	G	9: 21,635,698	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,362,912	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,345,107	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,319	P1496L	probably damaging	Het
Unc80	G	T	1: 66,671,608	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,384,077	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,787,026	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,135,786	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,555	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,204,895	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,071,187	K158E	probably damaging	Het

Other mutations in Myo1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Myo1d	APN	11	80601740	missense	probably benign
IGL01087:Myo1d	APN	11	80682435	missense	probably damaging	1.00
IGL01326:Myo1d	APN	11	80684321	splice site	probably benign
IGL01431:Myo1d	APN	11	80674839	missense	probably damaging	1.00
IGL01595:Myo1d	APN	11	80676110	missense	probably benign	0.00
IGL01811:Myo1d	APN	11	80692997	missense	probably damaging	0.96
IGL02301:Myo1d	APN	11	80676853	missense	probably benign	0.23
IGL02388:Myo1d	APN	11	80637997	nonsense	probably null
IGL02485:Myo1d	APN	11	80666581	missense	probably damaging	1.00
IGL03017:Myo1d	APN	11	80601626	missense	probably benign	0.26
horton	UTSW	11	80674708	missense	probably damaging	1.00
multifaceted	UTSW	11	80693072	missense	probably damaging	1.00
whisper	UTSW	11	80484332	missense	probably damaging	0.99
whisper2	UTSW	11	80666578	missense	probably damaging	1.00
whisper3	UTSW	11	80557521	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80637953	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80637953	missense	probably damaging	1.00
R0081:Myo1d	UTSW	11	80557523	missense	probably benign	0.00
R0096:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0096:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0244:Myo1d	UTSW	11	80674708	missense	probably damaging	1.00
R0711:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0746:Myo1d	UTSW	11	80586879	missense	possibly damaging	0.94
R1084:Myo1d	UTSW	11	80684395	missense	probably damaging	1.00
R1514:Myo1d	UTSW	11	80685908	missense	probably damaging	0.97
R1676:Myo1d	UTSW	11	80684421	missense	probably damaging	1.00
R1862:Myo1d	UTSW	11	80663048	missense	probably damaging	1.00
R2497:Myo1d	UTSW	11	80674821	missense	probably damaging	1.00
R3425:Myo1d	UTSW	11	80601638	missense	probably benign
R3429:Myo1d	UTSW	11	80682410	missense	probably damaging	1.00
R3917:Myo1d	UTSW	11	80666578	missense	probably damaging	1.00
R3928:Myo1d	UTSW	11	80484261	missense	probably benign	0.09
R4706:Myo1d	UTSW	11	80666641	missense	probably damaging	0.96
R4723:Myo1d	UTSW	11	80779841	utr 5 prime	probably benign
R4924:Myo1d	UTSW	11	80674678	missense	probably damaging	1.00
R5042:Myo1d	UTSW	11	80557521	missense	probably damaging	1.00
R5320:Myo1d	UTSW	11	80684323	critical splice donor site	probably null
R5481:Myo1d	UTSW	11	80663095	missense	possibly damaging	0.79
R6214:Myo1d	UTSW	11	80779791	start codon destroyed	probably null	0.98
R6235:Myo1d	UTSW	11	80692944	missense	probably benign	0.23
R6282:Myo1d	UTSW	11	80557512	missense	probably damaging	0.99
R6468:Myo1d	UTSW	11	80557474	missense	probably benign	0.00
R6668:Myo1d	UTSW	11	80583875	intron	probably benign
R6954:Myo1d	UTSW	11	80674957	missense	probably benign	0.21
R7077:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7078:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7080:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7172:Myo1d	UTSW	11	80592795	missense	probably benign	0.16
R7276:Myo1d	UTSW	11	80693072	missense	probably damaging	1.00
R7467:Myo1d	UTSW	11	80586917	missense	probably damaging	1.00
R7650:Myo1d	UTSW	11	80601684	missense	probably benign
R7678:Myo1d	UTSW	11	80676893	missense	possibly damaging	0.80
R7859:Myo1d	UTSW	11	80684377	missense	probably damaging	1.00
R8324:Myo1d	UTSW	11	80557521	missense	probably damaging	1.00
R8329:Myo1d	UTSW	11	80638074	missense	probably benign	0.21
R8474:Myo1d	UTSW	11	80670919	missense	possibly damaging	0.93
R8799:Myo1d	UTSW	11	80684379	missense	probably damaging	1.00
R8810:Myo1d	UTSW	11	80674932	missense	probably damaging	1.00
R8810:Myo1d	UTSW	11	80676932	missense	probably benign	0.30
R8823:Myo1d	UTSW	11	80601745	missense	possibly damaging	0.91
R9221:Myo1d	UTSW	11	80674918	missense	probably damaging	1.00
R9494:Myo1d	UTSW	11	80484267	missense	probably benign	0.02
R9625:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
R9626:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
R9628:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
Z1088:Myo1d	UTSW	11	80674898	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGACCTCATCACACCCTGGAG -3'
(R):5'- ATGCCCGTGCCTGTCTTTAG -3'

Sequencing Primer
(F):5'- GCCGCACCAAGGAAGAGTC -3'
(R):5'- AGCTCTGAGGAGTGGCG -3'

Posted On

2014-12-04