Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Myo1d'

188101

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1676 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80684421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 156 (N156K)

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: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: N156K

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: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: N156K

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,880,993	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,461,873	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,873,083	S97N	probably benign	Het
Ampd3	T	A	7: 110,795,733	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Cap2	T	G	13: 46,637,859	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616	L180S	probably damaging	Het
Casp8	T	A	1: 58,844,416	I314N	probably damaging	Het
Cavin2	T	A	1: 51,301,171	S336T	probably benign	Het
Cdc14b	A	T	13: 64,225,602	I119N	possibly damaging	Het
Cemip	T	A	7: 83,964,038	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,595,940	D522V	probably damaging	Het
Clrn3	A	T	7: 135,518,578	V93D	probably damaging	Het
Cyp4f39	A	G	17: 32,482,202	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,616,109	V314A	probably benign	Het
Dchs1	C	T	7: 105,754,921	V2805I	probably benign	Het
Dsp	A	T	13: 38,193,374	K1712*	probably null	Het
Emilin2	T	C	17: 71,274,090	D547G	probably benign	Het
Erbb3	T	C	10: 128,583,248	H248R	probably benign	Het
Erich3	A	G	3: 154,762,623		probably benign	Het
Fam213b	C	T	4: 154,897,063	V186I	probably benign	Het
Fbn1	T	C	2: 125,309,781	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,605,881	V384M	probably damaging	Het
Gm14085	T	C	2: 122,521,859	S366P	probably damaging	Het
Gpc5	T	A	14: 115,370,098	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,839,155	K145R	probably null	Het
Hectd1	G	T	12: 51,744,788	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 25,954,605		probably null	Het
Hirip3	T	C	7: 126,863,475		probably null	Het
Ispd	T	C	12: 36,476,721	C170R	probably benign	Het
Itpkc	T	C	7: 27,208,281	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,224,809	D693E	probably benign	Het
Katnbl1	T	C	2: 112,406,109	L60P	probably damaging	Het
Kcna1	T	A	6: 126,642,682	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,832,584	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,706,978	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Mdga2	C	A	12: 66,568,772	G618V	probably damaging	Het
Mdga2	C	A	12: 66,568,773	G618*	probably null	Het
Morc2b	T	C	17: 33,135,981	E939G	possibly damaging	Het
Mstn	T	A	1: 53,062,065	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,083,877		probably null	Het
Muc20	T	A	16: 32,794,279	T243S	probably damaging	Het
Myo7a	A	G	7: 98,099,472		probably null	Het
Naa35	A	T	13: 59,612,676	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,557,172	T329I	probably damaging	Het
Nisch	T	C	14: 31,180,902		probably benign	Het
Nlrp1b	A	T	11: 71,182,811	W69R	probably benign	Het
Nrap	T	A	19: 56,335,255	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,047,213	R56*	probably null	Het
Nudt1	A	G	5: 140,334,623		probably null	Het
Nxph4	T	G	10: 127,526,208	K271N	probably damaging	Het
Olfr1196	T	G	2: 88,701,317	H4P	probably benign	Het
Olfr243	T	C	7: 103,717,112	W173R	probably benign	Het
Olfr366	A	T	2: 37,219,641	R51*	probably null	Het
Olfr78	T	A	7: 102,742,398	I202F	probably damaging	Het
Otud6b	T	A	4: 14,825,617	N71I	probably damaging	Het
Parp8	T	A	13: 116,877,528	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,320,752	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,777,452	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,533,488	D51A	probably damaging	Het
Prag1	C	A	8: 36,102,898	P212T	probably damaging	Het
Ptdss1	A	G	13: 66,933,637	T44A	probably damaging	Het
Rab14	T	C	2: 35,186,723	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,761,182	G101E	probably benign	Het
Rimbp3	T	A	16: 17,211,113	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Selenbp1	A	G	3: 94,944,543	D465G	probably damaging	Het
Slc29a1	T	C	17: 45,589,010	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,247,666	V604F	probably benign	Het
Sltm	T	A	9: 70,573,647	D260E	probably damaging	Het
Spta1	G	A	1: 174,179,839	V212M	probably damaging	Het
St6gal2	T	C	17: 55,496,395		probably null	Het
Tc2n	A	G	12: 101,688,992	S235P	probably damaging	Het
Tenm3	T	A	8: 48,417,119	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,560,610	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,742,907		probably null	Het
Tyk2	G	A	9: 21,115,249	Q684*	probably null	Het
Ubqln1	A	G	13: 58,179,391	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,574,918	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,200,012	V372A	probably damaging	Het
Unc5c	G	A	3: 141,757,837	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,728,585	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 64,090,182	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,611,922	T727S	probably benign	Het
Vmn2r79	A	G	7: 87,002,631	T413A	probably benign	Het
Vps13c	T	C	9: 67,926,962	V1637A	probably benign	Het
Xpc	A	G	6: 91,492,947	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,447,347		probably null	Het
Zfp712	A	T	13: 67,052,336	D28E	probably benign	Het
Zfp735	A	G	11: 73,711,475	N415S	possibly 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
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'- TGAGTACCTTACCACGGAAGGCAG -3'
(R):5'- AGGGGACGATGGTCCACTAATCAG -3'

Sequencing Primer
(F):5'- CAGACGTGGAGACAGGTAATAG -3'
(R):5'- TCCACTAATCAGGTTGTGTCG -3'

Posted On

2014-05-09