Mutagenetix > Incidental Mutation

Incidental Mutation 'R9628:Myo1d'

725298

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9628 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80557470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 943 (G943V)

Ref Sequence

ENSEMBL: ENSMUSP00000037819 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041065
AA Change: G943V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: G943V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,732,830	N635D	probably damaging	Het
Ankrd13c	G	C	3: 157,947,676	K50N	probably benign	Het
Arhgef38	T	C	3: 133,132,264	Y635C	unknown	Het
Avl9	T	A	6: 56,736,475	Y239*	probably null	Het
C2cd3	T	A	7: 100,448,754	H1449Q		Het
C530008M17Rik	A	G	5: 76,857,076	E428G	unknown	Het
Ccdc141	G	A	2: 77,014,494	P1410S	probably damaging	Het
Ccz1	G	A	5: 143,988,225	T471M	possibly damaging	Het
Cdh26	T	C	2: 178,441,420	S27P		Het
Cdk11b	T	G	4: 155,649,697	D756E	unknown	Het
Celsr3	C	A	9: 108,826,360	S14*	probably null	Het
Cntrob	T	C	11: 69,322,956	T3A	possibly damaging	Het
Csde1	T	C	3: 103,055,509	V738A	probably benign	Het
Dazap1	T	C	10: 80,283,165	Y230H	unknown	Het
Dgcr14	A	T	16: 17,902,893	M363K	probably damaging	Het
Dip2a	A	G	10: 76,307,159	I264T	probably damaging	Het
Dleu7	C	A	14: 62,292,695	A86S	possibly damaging	Het
Dnmbp	T	A	19: 43,870,207	D132V	probably damaging	Het
Dppa4	T	C	16: 48,291,309	V219A	probably benign	Het
Dsg1c	T	A	18: 20,264,316	I27N	probably damaging	Het
Egr4	T	C	6: 85,512,310	Y256C	probably benign	Het
Fam124a	A	G	14: 62,587,561	E168G	probably damaging	Het
Gata4	T	C	14: 63,241,096	Y18C	probably damaging	Het
Gckr	C	A	5: 31,300,590	A147D	probably damaging	Het
H1foo	G	A	6: 115,947,739	V69I	probably damaging	Het
Hook1	T	C	4: 96,013,323	L506P	probably damaging	Het
Hormad2	G	A	11: 4,427,372	P22L	probably damaging	Het
Larp1b	T	C	3: 40,961,668		probably null	Het
Ldhb	T	C	6: 142,494,136	E226G	probably damaging	Het
Lpar5	T	G	6: 125,081,985	V223G	probably damaging	Het
Lrrc37a	A	G	11: 103,503,504	V365A	probably benign	Het
Lrrtm3	T	C	10: 64,087,997	K464E	probably damaging	Het
Ly75	A	G	2: 60,327,941	I1000T	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,484,509	L35P	probably damaging	Het
Nptx2	G	A	5: 144,553,451	R230H	probably benign	Het
Ntsr1	G	A	2: 180,541,481	R328H	probably damaging	Het
Olfr1216	A	G	2: 89,013,326	V246A	probably damaging	Het
Olfr384	G	A	11: 73,603,038	V153I	probably benign	Het
Olfr906	T	G	9: 38,488,575	L182R	probably benign	Het
Padi6	G	A	4: 140,737,315	T201I	probably damaging	Het
Plscr4	C	T	9: 92,472,932	T13I	possibly damaging	Het
Ppp6r1	G	A	7: 4,633,113	A782V	probably benign	Het
Rab18	G	A	18: 6,788,647	V205M	probably benign	Het
Rhobtb1	T	C	10: 69,270,823	V468A	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Scaf11	A	T	15: 96,419,517	I722N	probably benign	Het
Slc17a4	A	G	13: 23,905,529	V135A	possibly damaging	Het
Slc30a5	A	G	13: 100,824,914		probably null	Het
Slc5a6	T	C	5: 31,040,402	Y321C	probably benign	Het
Spag7	A	T	11: 70,664,360	D178E	probably benign	Het
Swsap1	T	G	9: 21,955,876	S39A		Het
Tank	A	G	2: 61,653,532	T441A	probably benign	Het
Tor1aip1	C	A	1: 156,017,574	G276*	probably null	Het
Usp47	G	A	7: 112,106,792	M1220I	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r35	A	G	7: 7,812,703	V489A	probably benign	Het
Wif1	T	C	10: 121,096,644	V309A	possibly damaging	Het
Xpo4	T	C	14: 57,605,173	N434D	probably damaging	Het
Zfp462	A	T	4: 55,009,423	H463L	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
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
Z1088:Myo1d	UTSW	11	80674898	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCGGATGCTAATTTCACCTTC -3'
(R):5'- ATCGTCACCATCGTTGCTATG -3'

Sequencing Primer
(F):5'- GCACAAACCAAGGTTAGTG -3'
(R):5'- ACCATCGTTGCTATGGCCTG -3'

Posted On

2022-09-12