Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Myo1d'

19693

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

038368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80557523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 925 (K925N)

Ref Sequence

ENSEMBL: ENSMUSP00000037819 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

probably benign
Transcript: ENSMUST00000041065
AA Change: K925N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: K925N

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

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,687	D485G	probably damaging	Het
Adamts19	T	C	18: 58,903,065		probably null	Het
Adgrd1	A	T	5: 129,178,082	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280		probably benign	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468		probably benign	Het
Dclre1a	A	G	19: 56,542,707	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,993,759	Q1258K	probably benign	Het
Dock10	T	C	1: 80,606,578	D137G	probably damaging	Het
Dpyd	G	A	3: 118,944,255	V482I	probably benign	Het
Erich6	A	T	3: 58,636,126		probably benign	Het
Fam193b	A	G	13: 55,554,211		probably benign	Het
Foxp2	T	C	6: 15,405,644		probably benign	Het
Frmd4a	T	C	2: 4,572,441		probably null	Het
Gas2l2	A	G	11: 83,422,867	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717	V876A	probably damaging	Het
H1foo	A	G	6: 115,949,981	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976		probably benign	Het
Ice1	A	T	13: 70,619,044	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147		probably null	Het
Kank4	G	T	4: 98,778,330	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426		probably benign	Het
Lipn	A	G	19: 34,076,976	I205V	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myoz1	T	A	14: 20,649,554	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nf1	C	A	11: 79,453,979		probably benign	Het
Npepl1	C	T	2: 174,116,086	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299	K131R	probably benign	Het
Olfr1258	T	A	2: 89,930,079	I90K	possibly damaging	Het
Olfr1303	A	C	2: 111,813,868	I286S	probably damaging	Het
Olfr344	T	A	2: 36,568,881	Y94*	probably null	Het
Olfr352	T	C	2: 36,870,010	L148S	possibly damaging	Het
Olfr358	G	A	2: 37,005,450	L55F	probably damaging	Het
Olfr389	A	G	11: 73,777,109	F73L	possibly damaging	Het
Olfr472	C	T	7: 107,903,005	T96I	probably benign	Het
Olfr771	C	T	10: 129,160,838	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533		probably benign	Het
Pik3c2g	T	C	6: 139,957,793	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sigirr	T	C	7: 141,091,372	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562		probably benign	Het
Tdrd1	T	C	19: 56,831,271	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Ttc38	A	G	15: 85,856,472	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089		probably null	Het
Zpr1	A	G	9: 46,279,697	D300G	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
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
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'- AGGCCGGATGCTAATTTCACCTTC -3'
(R):5'- AAAGGTTAAAATCGTCACCATCGTTGC -3'

Sequencing Primer
(F):5'- ATTTGTCCTTGTGGAGGAAAAC -3'
(R):5'- CTATGGCCTGCTCTAATTCATTC -3'

Posted On

2013-04-11