Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Myo1a'

345450

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127705170-127720940 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 127720151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079590] [ENSMUST00000179960]

AlphaFold

O88329

Predicted Effect

probably null
Transcript: ENSMUST00000079590

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401

Domain	Start	End	E-Value	Type
MYSc	3	695	N/A	SMART
IQ	696	718	1.27e-3	SMART
IQ	719	741	1.09e-2	SMART
IQ	742	764	7.52e-6	SMART
Pfam:Myosin_TH1	847	1035	1.4e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179960

SMART Domains

Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400

Domain	Start	End	E-Value	Type
Pfam:Neurokinin_B	1	54	2.7e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219882

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display abnormal small intestine brush border morphology, but have normal hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	Het

Other mutations in Myo1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Myo1a	APN	10	127720660	missense	probably benign	0.00
IGL01896:Myo1a	APN	10	127719904	missense	probably benign
IGL02073:Myo1a	APN	10	127710225	missense	probably damaging	0.98
IGL02380:Myo1a	APN	10	127714485	missense	probably benign	0.00
IGL02507:Myo1a	APN	10	127712609	missense	probably damaging	0.98
R0106:Myo1a	UTSW	10	127719880	missense	probably benign	0.02
R0326:Myo1a	UTSW	10	127716297	missense	probably benign	0.00
R0357:Myo1a	UTSW	10	127710902	missense	probably benign	0.02
R0485:Myo1a	UTSW	10	127719242	splice site	probably benign
R0676:Myo1a	UTSW	10	127719880	missense	probably benign	0.02
R0707:Myo1a	UTSW	10	127719863	unclassified	probably benign
R1241:Myo1a	UTSW	10	127719279	missense	probably benign	0.00
R1441:Myo1a	UTSW	10	127719279	missense	probably benign	0.00
R1458:Myo1a	UTSW	10	127719937	missense	probably benign
R1546:Myo1a	UTSW	10	127712624	missense	probably damaging	1.00
R1692:Myo1a	UTSW	10	127719334	splice site	probably null
R1871:Myo1a	UTSW	10	127719671	missense	probably benign
R2067:Myo1a	UTSW	10	127705478	missense	probably benign	0.25
R2079:Myo1a	UTSW	10	127720613	missense	probably benign	0.00
R2151:Myo1a	UTSW	10	127720181	missense	probably benign	0.18
R2375:Myo1a	UTSW	10	127705290	missense	probably damaging	1.00
R3014:Myo1a	UTSW	10	127716345	missense	probably damaging	1.00
R3741:Myo1a	UTSW	10	127714898	missense	probably benign	0.19
R3812:Myo1a	UTSW	10	127707415	missense	possibly damaging	0.89
R4303:Myo1a	UTSW	10	127713733	missense	probably benign	0.10
R4306:Myo1a	UTSW	10	127714081	missense	probably benign
R4472:Myo1a	UTSW	10	127710458	missense	probably benign	0.06
R4604:Myo1a	UTSW	10	127711138	missense	probably damaging	1.00
R4649:Myo1a	UTSW	10	127710217	missense	probably benign	0.05
R4747:Myo1a	UTSW	10	127714438	missense	probably damaging	1.00
R4755:Myo1a	UTSW	10	127715688	missense	probably damaging	1.00
R4972:Myo1a	UTSW	10	127716309	missense	probably benign	0.31
R5072:Myo1a	UTSW	10	127707419	critical splice donor site	probably null
R5073:Myo1a	UTSW	10	127707419	critical splice donor site	probably null
R5074:Myo1a	UTSW	10	127707419	critical splice donor site	probably null
R5386:Myo1a	UTSW	10	127705897	nonsense	probably null
R5592:Myo1a	UTSW	10	127714039	missense	probably damaging	1.00
R5619:Myo1a	UTSW	10	127718544	missense	probably benign	0.00
R6001:Myo1a	UTSW	10	127706925	critical splice donor site	probably null
R6374:Myo1a	UTSW	10	127707680	missense	probably damaging	1.00
R6577:Myo1a	UTSW	10	127715320	missense	possibly damaging	0.94
R6932:Myo1a	UTSW	10	127710458	missense	probably benign	0.06
R7310:Myo1a	UTSW	10	127705828	missense	probably damaging	0.98
R7395:Myo1a	UTSW	10	127710440	missense	probably damaging	0.98
R7429:Myo1a	UTSW	10	127706847	missense	probably damaging	1.00
R7430:Myo1a	UTSW	10	127706847	missense	probably damaging	1.00
R8464:Myo1a	UTSW	10	127718584	missense	probably benign	0.01
R8523:Myo1a	UTSW	10	127711158	missense	probably damaging	1.00
R8722:Myo1a	UTSW	10	127706838	missense	probably damaging	1.00
R8803:Myo1a	UTSW	10	127710987	missense	probably benign	0.19
R8815:Myo1a	UTSW	10	127710174	missense	probably benign	0.17
R8862:Myo1a	UTSW	10	127712784	missense	probably benign	0.02
R8913:Myo1a	UTSW	10	127705841	missense	probably benign	0.06
R8917:Myo1a	UTSW	10	127715665	missense	possibly damaging	0.88
R9020:Myo1a	UTSW	10	127714123	missense	probably benign	0.01
R9429:Myo1a	UTSW	10	127707378	missense	probably damaging	1.00
X0067:Myo1a	UTSW	10	127713745	missense	probably damaging	1.00
Z1177:Myo1a	UTSW	10	127706875	missense	probably benign	0.20
Z1177:Myo1a	UTSW	10	127706881	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CCAGATTGTCATAGGACTGGAG -3'
(R):5'- CAGTATTCTGGTCGCCTGTC -3'

Sequencing Primer
(F):5'- GTGTCAGTCAGCAGCCTC -3'
(R):5'- TGGTCGCCTGTCCCCAG -3'

Posted On

2015-09-25