Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Myo1d'

725164

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 #

R9626 (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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,573,950	K506N		Het
Aass	T	A	6: 23,127,503	N37I	unknown	Het
Abca9	T	A	11: 110,120,780	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,198,657	S768P	probably damaging	Het
Arap2	T	A	5: 62,749,535	H47L	probably benign	Het
Armc4	G	T	18: 7,211,422	C817*	probably null	Het
Atxn1	T	A	13: 45,557,320	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,454,508	S173T	probably damaging	Het
Camta1	A	T	4: 151,083,830	S254R	probably damaging	Het
Card9	T	C	2: 26,357,282	E285G	probably benign	Het
Celf2	G	A	2: 6,586,024	A320V	probably benign	Het
Celsr3	T	C	9: 108,849,322	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,650,889	R941H		Het
Cntrob	T	C	11: 69,311,341	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,399,695	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,621,174		probably benign	Het
Erich3	A	T	3: 154,739,093	D302V	probably benign	Het
Fbxo48	T	A	11: 16,954,333	*162K	probably null	Het
Fyttd1	T	C	16: 32,905,545	L290S	probably damaging	Het
Gcc1	T	C	6: 28,418,918	D472G	probably damaging	Het
Gjb4	C	T	4: 127,352,288		probably benign	Het
Gm5157	G	T	7: 21,185,471	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 152,795,631		probably null	Het
Hnrnpm	G	T	17: 33,677,290	D88E	probably damaging	Het
Hormad2	G	A	11: 4,427,372	P22L	probably damaging	Het
Hunk	C	T	16: 90,475,903	T365M	probably damaging	Het
Lamb1	A	G	12: 31,304,670	D972G	probably benign	Het
Mamdc4	A	G	2: 25,568,261	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,248,472	L179P	probably damaging	Het
Mterf2	C	T	10: 85,120,431	A110T	probably benign	Het
Mucl1	A	G	15: 103,753,668	S91P	possibly damaging	Het
Ndst4	A	C	3: 125,683,180	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,008,064	C382*	probably null	Het
Npc1l1	T	C	11: 6,227,854	K519E	probably benign	Het
Nphs1	A	G	7: 30,467,566	K747E	probably benign	Het
Nubp2	C	G	17: 24,884,400		probably null	Het
Olfr1352	T	G	10: 78,984,379	D196E	probably benign	Het
Olfr1447	A	T	19: 12,901,236	D181E	possibly damaging	Het
Olfr19	A	G	16: 16,673,627	M118T	probably damaging	Het
Olfr525	T	C	7: 140,323,323	V208A	probably benign	Het
Olfr912	A	G	9: 38,581,681	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,146,502	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,448,734	T298P	probably damaging	Het
Phldb2	A	T	16: 45,772,184	L957Q	possibly damaging	Het
Pole	A	G	5: 110,312,093	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 35,969,629	T344K	probably benign	Het
Prpf8	A	G	11: 75,494,855	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,934,614	Y23*	probably null	Het
Sap18b	A	G	8: 95,825,470	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241	F227L	probably benign	Het
Spata13	C	T	14: 60,706,900	P581S	probably benign	Het
Ssc5d	C	A	7: 4,943,569	T974K	probably benign	Het
Tenm4	C	A	7: 96,896,138	R2491S	probably damaging	Het
Tex2	T	C	11: 106,546,753	E697G	unknown	Het
Tmem44	A	T	16: 30,547,408	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,813,482	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,421,373	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,663,527	I198V	probably benign	Het
Ttn	C	T	2: 76,831,206	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,637,895	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,871,848	M209L	probably benign	Het
Vmn2r50	A	T	7: 10,038,033	C580*	probably null	Het
Vmn2r96	A	G	17: 18,573,496	E34G	probably benign	Het
Zmynd8	C	T	2: 165,812,348		probably null	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
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'- AAGGCCGGATGCTAATTTCACC -3'
(R):5'- GTCACCATCGTTGCTATGGC -3'

Sequencing Primer
(F):5'- GCCGGATGCTAATTTCACCTTCTATG -3'
(R):5'- ATCGTTGCTATGGCCTGCTC -3'

Posted On

2022-09-12