Mutagenetix > Incidental Mutation

Incidental Mutation 'R3429:Myo1d'

268021

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

040647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80682410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 197 (G197E)

Ref Sequence

ENSEMBL: ENSMUSP00000066948 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041065
AA Change: G197E

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

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: G197E

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 damaging
Transcript: ENSMUST00000070997
AA Change: G197E

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

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: G197E

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

Meta Mutation Damage Score

0.7351

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,290	M1K	probably null	Het
Afap1l2	C	A	19: 56,915,806	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,712,154		probably benign	Het
Aoc1	A	T	6: 48,906,076	E295D	probably benign	Het
Asah1	C	T	8: 41,351,888		probably benign	Het
B4galnt4	T	C	7: 141,070,839	L842P	probably damaging	Het
Bhmt	T	C	13: 93,627,347	E62G	probably damaging	Het
Btbd10	T	A	7: 113,351,809	R25*	probably null	Het
Cdh5	T	A	8: 104,130,968	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,806,327	E109D	probably benign	Het
Cntrl	T	C	2: 35,145,100	L913S	probably damaging	Het
Col12a1	T	A	9: 79,680,311	T1183S	probably benign	Het
Col6a6	A	T	9: 105,777,967	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,281,230		probably null	Het
Cyp2c66	T	A	19: 39,163,448	N202K	probably damaging	Het
Dchs1	A	G	7: 105,756,504	V2391A	possibly damaging	Het
Dgat2	A	G	7: 99,157,093	V299A	probably benign	Het
Dnah6	G	A	6: 73,121,814	S2034L	possibly damaging	Het
E430018J23Rik	T	C	7: 127,391,742	T358A	possibly damaging	Het
Eps8l2	G	A	7: 141,357,919		probably null	Het
Fgg	T	A	3: 83,012,783	F290I	probably damaging	Het
Filip1	A	T	9: 79,853,670	M194K	probably damaging	Het
Foxl2	T	C	9: 98,955,982	F108L	probably damaging	Het
Fut1	T	C	7: 45,619,374	F196L	probably damaging	Het
Gm10323	A	C	13: 66,854,824	W17G	probably damaging	Het
Gstz1	T	A	12: 87,163,696		probably null	Het
Hacd1	T	C	2: 14,044,775		probably benign	Het
Hmcn2	T	A	2: 31,409,144	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,436,322	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,583,194		probably benign	Het
Lmntd2	A	G	7: 141,213,997	V21A	probably benign	Het
Lonp1	T	A	17: 56,618,337	D485V	probably damaging	Het
Mia2	A	G	12: 59,189,641	T1346A	possibly damaging	Het
Mpp2	T	C	11: 102,085,315	T6A	probably benign	Het
Mycbp2	A	T	14: 103,229,430	V1299E	probably damaging	Het
Nfib	T	C	4: 82,498,295	I168V	possibly damaging	Het
Olfr1209	C	T	2: 88,909,466	R309Q	probably benign	Het
Olfr1226	T	A	2: 89,193,273	I254L	probably benign	Het
Olfr1391	C	T	11: 49,328,041	A210V	probably benign	Het
Olfr1535	A	T	13: 21,555,805	C72*	probably null	Het
Olfr318	T	A	11: 58,720,271	Y259F	probably damaging	Het
Parp3	A	T	9: 106,474,723	I150K	probably damaging	Het
Pnp	A	G	14: 50,947,986	D49G	probably benign	Het
Prkcq	T	C	2: 11,246,970	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rlf	A	G	4: 121,150,532	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,700,895		probably null	Het
Sgce	T	A	6: 4,730,008	D72V	probably benign	Het
Sh3d21	A	G	4: 126,162,832	S66P	probably benign	Het
Sost	C	G	11: 101,964,039	G148A	probably damaging	Het
Sybu	T	C	15: 44,746,458	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,669,575	T742A	probably damaging	Het
Tet3	A	G	6: 83,403,419	V589A	probably damaging	Het
Tnxb	C	A	17: 34,672,631	C649*	probably null	Het
Tnxb	A	G	17: 34,703,587	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,352,539	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,076,208	N139K	probably damaging	Het
Zfp106	T	C	2: 120,527,063	H1117R	probably benign	Het
Zfp26	A	G	9: 20,441,460		probably benign	Het
Zfp804b	T	A	5: 7,180,625		probably benign	Het
Zfr	T	C	15: 12,152,920	S546P	probably benign	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
R2512:Myo1d	UTSW	11	80779717	missense	probably benign	0.00
R3425:Myo1d	UTSW	11	80601638	missense	probably benign
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'- GGATGTGAAAGCCTGTGCAC -3'
(R):5'- AGGACACTCATCTCTGATAAGC -3'

Sequencing Primer
(F):5'- CTGTGCACACATGGAATTCG -3'
(R):5'- CTTGTGCTGACGAGGCAAG -3'

Posted On

2015-02-18