Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02389:Myo7a'

291698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo7a

Ensembl Gene

ENSMUSG00000030761

Gene Name

myosin VIIA

Synonyms

nmf371, USH1B, polka, Hdb, Myo7

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

97700267-97768731 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 97756198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084979] [ENSMUST00000107122] [ENSMUST00000107127] [ENSMUST00000107128] [ENSMUST00000138627] [ENSMUST00000205746]

AlphaFold

P97479

Predicted Effect

probably null
Transcript: ENSMUST00000084979

SMART Domains

Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761

Domain	Start	End	E-Value	Type
MYSc	48	731	N/A	SMART
IQ	732	754	2.99e0	SMART
IQ	755	777	8.77e-7	SMART
IQ	801	823	8e0	SMART
IQ	824	846	8.7e0	SMART
low complexity region	854	889	N/A	INTRINSIC
low complexity region	893	916	N/A	INTRINSIC
low complexity region	972	985	N/A	INTRINSIC
MyTH4	1006	1242	1.4e-71	SMART
B41	1243	1458	8.82e-42	SMART
SH3	1557	1622	4.93e-7	SMART
MyTH4	1698	1847	3.95e-57	SMART
B41	1849	2066	8.27e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107122

SMART Domains

Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761

Domain	Start	End	E-Value	Type
MYSc	48	737	N/A	SMART
IQ	738	760	2.99e0	SMART
IQ	761	783	8.77e-7	SMART
IQ	807	829	8e0	SMART
IQ	830	852	8.7e0	SMART
low complexity region	860	895	N/A	INTRINSIC
low complexity region	899	922	N/A	INTRINSIC
low complexity region	978	991	N/A	INTRINSIC
MyTH4	1012	1248	1.4e-71	SMART
B41	1249	1464	8.82e-42	SMART
SH3	1563	1628	4.93e-7	SMART
MyTH4	1704	1853	3.95e-57	SMART
B41	1855	2072	8.27e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107127

SMART Domains

Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761

Domain	Start	End	E-Value	Type
MYSc	59	742	N/A	SMART
IQ	743	765	2.99e0	SMART
IQ	766	788	8.77e-7	SMART
IQ	812	834	8e0	SMART
IQ	835	857	8.7e0	SMART
low complexity region	865	900	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC
low complexity region	983	996	N/A	INTRINSIC
MyTH4	1017	1253	1.4e-71	SMART
B41	1254	1469	8.82e-42	SMART
SH3	1568	1633	4.93e-7	SMART
MyTH4	1709	1858	3.95e-57	SMART
B41	1860	2077	8.27e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107128

SMART Domains

Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761

Domain	Start	End	E-Value	Type
MYSc	59	742	N/A	SMART
IQ	743	765	2.99e0	SMART
IQ	766	788	8.77e-7	SMART
IQ	812	834	8e0	SMART
IQ	835	857	8.7e0	SMART
low complexity region	865	900	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC
low complexity region	983	996	N/A	INTRINSIC
MyTH4	1017	1253	1.4e-71	SMART
B41	1254	1469	8.82e-42	SMART
SH3	1606	1671	4.93e-7	SMART
MyTH4	1747	1896	3.95e-57	SMART
B41	1898	2115	8.27e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131632

Predicted Effect

probably null
Transcript: ENSMUST00000138627

SMART Domains

Protein: ENSMUSP00000114944
Gene: ENSMUSG00000030761

Domain	Start	End	E-Value	Type
Pfam:Myosin_head	67	139	7.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149079

Predicted Effect

probably null
Transcript: ENSMUST00000205746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155637

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 64,053,826 (GRCm39)	S11N	probably null	Het
Aqp9	T	C	9: 71,030,188 (GRCm39)	I200V	possibly damaging	Het
Cntn2	T	C	1: 132,453,059 (GRCm39)	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Dennd3	A	G	15: 73,438,905 (GRCm39)	D1091G	probably damaging	Het
Dock2	T	C	11: 34,589,567 (GRCm39)		probably benign	Het
Dscam	T	A	16: 96,442,097 (GRCm39)	I1577F	probably benign	Het
Egflam	A	T	15: 7,279,559 (GRCm39)	N482K	probably benign	Het
Fam216a	T	C	5: 122,505,574 (GRCm39)	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,790,136 (GRCm39)	M325V	probably benign	Het
Fbxw8	C	T	5: 118,267,020 (GRCm39)	V148M	possibly damaging	Het
Fcgbp	C	T	7: 27,774,596 (GRCm39)	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,618,388 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,616,729 (GRCm39)	T408A	probably benign	Het
H2-T3	A	G	17: 36,497,500 (GRCm39)	M59T	probably benign	Het
Jakmip1	C	T	5: 37,258,187 (GRCm39)	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,200,312 (GRCm39)	G110D	unknown	Het
Nlrp9c	T	A	7: 26,093,632 (GRCm39)	Q11L	probably benign	Het
Or14a257	A	G	7: 86,138,336 (GRCm39)	L141P	probably damaging	Het
Or5b94	A	T	19: 12,651,899 (GRCm39)	D110V	probably benign	Het
Or6c75	T	A	10: 129,336,939 (GRCm39)	M62K	probably benign	Het
Or6c8	A	C	10: 128,915,099 (GRCm39)	I244M	probably damaging	Het
Pdzd8	A	G	19: 59,289,825 (GRCm39)	I525T	probably benign	Het
Pign	A	T	1: 105,574,506 (GRCm39)	L280*	probably null	Het
Pik3r4	T	G	9: 105,527,530 (GRCm39)	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,498,506 (GRCm39)	Q471*	probably null	Het
Prrc2c	A	G	1: 162,520,439 (GRCm39)	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,272,808 (GRCm39)	R52C	probably damaging	Het
Rfx2	T	C	17: 57,115,325 (GRCm39)		probably benign	Het
Sh3bp4	T	C	1: 89,072,870 (GRCm39)	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,251,733 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,857,624 (GRCm39)	I840F	probably benign	Het
Slc5a4b	A	T	10: 75,908,299 (GRCm39)	Y364*	probably null	Het
Slitrk1	A	G	14: 109,149,754 (GRCm39)	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,028,567 (GRCm39)	A499T	probably benign	Het
Tnks2	T	A	19: 36,861,503 (GRCm39)	S951R	probably benign	Het
Trim30c	A	G	7: 104,031,381 (GRCm39)	F478S	probably benign	Het
Tyro3	C	T	2: 119,635,345 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,042 (GRCm39)	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,315,816 (GRCm39)	C215S	probably damaging	Het
Zzef1	C	T	11: 72,782,043 (GRCm39)	P1995S	probably benign	Het
Zzef1	T	A	11: 72,790,364 (GRCm39)	V2106D	possibly damaging	Het

Other mutations in Myo7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Myo7a	APN	7	97,751,833 (GRCm39)	missense	probably damaging	1.00
IGL00785:Myo7a	APN	7	97,703,555 (GRCm39)	missense	probably damaging	0.99
IGL00840:Myo7a	APN	7	97,700,866 (GRCm39)	missense	probably benign	0.25
IGL01362:Myo7a	APN	7	97,746,909 (GRCm39)	missense	probably damaging	1.00
IGL01484:Myo7a	APN	7	97,734,629 (GRCm39)	missense	probably damaging	1.00
IGL01673:Myo7a	APN	7	97,703,915 (GRCm39)	missense	probably benign	0.00
IGL01933:Myo7a	APN	7	97,732,349 (GRCm39)	missense	probably damaging	1.00
IGL01943:Myo7a	APN	7	97,714,854 (GRCm39)	missense	possibly damaging	0.96
IGL02188:Myo7a	APN	7	97,740,234 (GRCm39)	missense	probably damaging	0.96
IGL02304:Myo7a	APN	7	97,726,943 (GRCm39)	missense	possibly damaging	0.89
IGL02305:Myo7a	APN	7	97,700,836 (GRCm39)	makesense	probably null
IGL02331:Myo7a	APN	7	97,702,389 (GRCm39)	missense	possibly damaging	0.95
IGL02386:Myo7a	APN	7	97,724,319 (GRCm39)	missense	probably damaging	0.99
IGL02832:Myo7a	APN	7	97,740,227 (GRCm39)	critical splice donor site	probably null
IGL02839:Myo7a	APN	7	97,740,329 (GRCm39)	missense	probably damaging	1.00
IGL03193:Myo7a	APN	7	97,740,264 (GRCm39)	missense	probably damaging	1.00
IGL03237:Myo7a	APN	7	97,751,800 (GRCm39)	missense	probably damaging	1.00
IGL03384:Myo7a	APN	7	97,742,800 (GRCm39)	missense	probably damaging	1.00
coward	UTSW	7	97,734,673 (GRCm39)	missense	probably damaging	1.00
H8786:Myo7a	UTSW	7	97,744,985 (GRCm39)	missense	possibly damaging	0.61
IGL03046:Myo7a	UTSW	7	97,728,534 (GRCm39)	missense	probably damaging	1.00
IGL03134:Myo7a	UTSW	7	97,705,974 (GRCm39)	missense	probably damaging	0.96
PIT4696001:Myo7a	UTSW	7	97,712,806 (GRCm39)	missense	probably benign	0.00
R0054:Myo7a	UTSW	7	97,714,905 (GRCm39)	missense	probably damaging	1.00
R0054:Myo7a	UTSW	7	97,714,905 (GRCm39)	missense	probably damaging	1.00
R0071:Myo7a	UTSW	7	97,706,037 (GRCm39)	missense	probably damaging	0.98
R0071:Myo7a	UTSW	7	97,706,037 (GRCm39)	missense	probably damaging	0.98
R0267:Myo7a	UTSW	7	97,703,831 (GRCm39)	missense	probably benign	0.08
R0408:Myo7a	UTSW	7	97,705,988 (GRCm39)	missense	probably damaging	1.00
R0411:Myo7a	UTSW	7	97,721,144 (GRCm39)	missense	probably benign	0.00
R0540:Myo7a	UTSW	7	97,721,153 (GRCm39)	missense	probably damaging	1.00
R0607:Myo7a	UTSW	7	97,721,153 (GRCm39)	missense	probably damaging	1.00
R0629:Myo7a	UTSW	7	97,734,673 (GRCm39)	missense	probably damaging	1.00
R0632:Myo7a	UTSW	7	97,761,357 (GRCm39)	intron	probably benign
R0659:Myo7a	UTSW	7	97,703,545 (GRCm39)	splice site	probably benign
R0735:Myo7a	UTSW	7	97,730,387 (GRCm39)	splice site	probably benign
R0924:Myo7a	UTSW	7	97,747,463 (GRCm39)	missense	probably damaging	0.99
R0930:Myo7a	UTSW	7	97,747,463 (GRCm39)	missense	probably damaging	0.99
R1018:Myo7a	UTSW	7	97,756,212 (GRCm39)	missense	probably damaging	1.00
R1196:Myo7a	UTSW	7	97,746,880 (GRCm39)	missense	possibly damaging	0.87
R1331:Myo7a	UTSW	7	97,756,215 (GRCm39)	missense	probably benign	0.00
R1487:Myo7a	UTSW	7	97,703,017 (GRCm39)	critical splice donor site	probably null
R1676:Myo7a	UTSW	7	97,748,679 (GRCm39)	critical splice donor site	probably null
R1695:Myo7a	UTSW	7	97,741,703 (GRCm39)	missense	possibly damaging	0.94
R1770:Myo7a	UTSW	7	97,761,813 (GRCm39)	intron	probably benign
R1781:Myo7a	UTSW	7	97,722,331 (GRCm39)	missense	probably damaging	1.00
R1789:Myo7a	UTSW	7	97,756,302 (GRCm39)	missense	probably damaging	0.99
R1827:Myo7a	UTSW	7	97,725,938 (GRCm39)	missense	probably damaging	0.99
R1864:Myo7a	UTSW	7	97,701,463 (GRCm39)	missense	probably damaging	1.00
R1955:Myo7a	UTSW	7	97,704,128 (GRCm39)	missense	probably damaging	1.00
R2011:Myo7a	UTSW	7	97,703,915 (GRCm39)	missense	possibly damaging	0.69
R2229:Myo7a	UTSW	7	97,704,117 (GRCm39)	missense	probably benign	0.12
R2259:Myo7a	UTSW	7	97,718,706 (GRCm39)	missense	probably damaging	1.00
R2443:Myo7a	UTSW	7	97,744,976 (GRCm39)	missense	probably benign	0.07
R2898:Myo7a	UTSW	7	97,746,413 (GRCm39)	missense	probably damaging	1.00
R2898:Myo7a	UTSW	7	97,703,631 (GRCm39)	nonsense	probably null
R3158:Myo7a	UTSW	7	97,701,499 (GRCm39)	missense	probably damaging	1.00
R3408:Myo7a	UTSW	7	97,730,294 (GRCm39)	missense	probably benign	0.00
R4222:Myo7a	UTSW	7	97,722,436 (GRCm39)	missense	possibly damaging	0.93
R4255:Myo7a	UTSW	7	97,721,171 (GRCm39)	missense	probably damaging	0.96
R4374:Myo7a	UTSW	7	97,751,881 (GRCm39)	missense	probably damaging	1.00
R4429:Myo7a	UTSW	7	97,702,395 (GRCm39)	missense	probably damaging	0.99
R4445:Myo7a	UTSW	7	97,715,611 (GRCm39)	missense	probably damaging	1.00
R4579:Myo7a	UTSW	7	97,722,400 (GRCm39)	missense	probably damaging	1.00
R4659:Myo7a	UTSW	7	97,734,673 (GRCm39)	missense	probably damaging	1.00
R5073:Myo7a	UTSW	7	97,722,425 (GRCm39)	nonsense	probably null
R5138:Myo7a	UTSW	7	97,732,806 (GRCm39)	missense	probably damaging	1.00
R5566:Myo7a	UTSW	7	97,714,023 (GRCm39)	missense	possibly damaging	0.93
R5580:Myo7a	UTSW	7	97,722,367 (GRCm39)	missense	probably damaging	1.00
R6079:Myo7a	UTSW	7	97,714,997 (GRCm39)	nonsense	probably null
R6138:Myo7a	UTSW	7	97,714,997 (GRCm39)	nonsense	probably null
R6451:Myo7a	UTSW	7	97,722,374 (GRCm39)	missense	probably benign	0.01
R6452:Myo7a	UTSW	7	97,722,374 (GRCm39)	missense	probably benign	0.01
R6453:Myo7a	UTSW	7	97,722,374 (GRCm39)	missense	probably benign	0.01
R6454:Myo7a	UTSW	7	97,722,374 (GRCm39)	missense	probably benign	0.01
R6455:Myo7a	UTSW	7	97,722,374 (GRCm39)	missense	probably benign	0.01
R6465:Myo7a	UTSW	7	97,711,887 (GRCm39)	missense	possibly damaging	0.95
R6653:Myo7a	UTSW	7	97,703,710 (GRCm39)	missense	probably damaging	0.96
R6709:Myo7a	UTSW	7	97,703,906 (GRCm39)	missense	probably damaging	1.00
R6917:Myo7a	UTSW	7	97,744,970 (GRCm39)	missense	possibly damaging	0.58
R7313:Myo7a	UTSW	7	97,713,402 (GRCm39)	missense	probably damaging	0.99
R7334:Myo7a	UTSW	7	97,728,573 (GRCm39)	missense	probably benign
R7356:Myo7a	UTSW	7	97,751,890 (GRCm39)	missense	probably benign	0.01
R7393:Myo7a	UTSW	7	97,712,906 (GRCm39)	missense	possibly damaging	0.91
R7422:Myo7a	UTSW	7	97,700,833 (GRCm39)	splice site	probably null
R7472:Myo7a	UTSW	7	97,714,000 (GRCm39)	missense	probably damaging	1.00
R7483:Myo7a	UTSW	7	97,712,881 (GRCm39)	missense	probably benign	0.07
R7526:Myo7a	UTSW	7	97,734,655 (GRCm39)	missense	possibly damaging	0.49
R7948:Myo7a	UTSW	7	97,724,236 (GRCm39)	missense	probably damaging	1.00
R8069:Myo7a	UTSW	7	97,732,833 (GRCm39)	nonsense	probably null
R8115:Myo7a	UTSW	7	97,715,653 (GRCm39)	missense	probably damaging	0.98
R8150:Myo7a	UTSW	7	97,712,846 (GRCm39)	missense	probably benign	0.19
R8265:Myo7a	UTSW	7	97,734,604 (GRCm39)	missense	probably benign	0.00
R8289:Myo7a	UTSW	7	97,726,376 (GRCm39)	missense	probably benign
R8298:Myo7a	UTSW	7	97,747,541 (GRCm39)	missense	probably damaging	1.00
R8518:Myo7a	UTSW	7	97,740,270 (GRCm39)	missense	possibly damaging	0.58
R8539:Myo7a	UTSW	7	97,721,668 (GRCm39)	missense	probably damaging	0.99
R8557:Myo7a	UTSW	7	97,703,081 (GRCm39)	missense	probably benign	0.08
R8685:Myo7a	UTSW	7	97,746,334 (GRCm39)	missense	probably benign	0.03
R8902:Myo7a	UTSW	7	97,741,820 (GRCm39)	missense	probably damaging	1.00
R9034:Myo7a	UTSW	7	97,728,465 (GRCm39)	missense	probably benign	0.40
R9090:Myo7a	UTSW	7	97,740,281 (GRCm39)	missense	probably benign	0.04
R9172:Myo7a	UTSW	7	97,732,369 (GRCm39)	missense	probably benign
R9271:Myo7a	UTSW	7	97,740,281 (GRCm39)	missense	probably benign	0.04
R9334:Myo7a	UTSW	7	97,716,369 (GRCm39)	missense	probably damaging	1.00
R9356:Myo7a	UTSW	7	97,725,873 (GRCm39)	missense	probably benign	0.11
R9444:Myo7a	UTSW	7	97,742,698 (GRCm39)	missense	possibly damaging	0.84
R9459:Myo7a	UTSW	7	97,722,380 (GRCm39)	missense	possibly damaging	0.65
R9513:Myo7a	UTSW	7	97,746,818 (GRCm39)	critical splice donor site	probably null
R9517:Myo7a	UTSW	7	97,721,166 (GRCm39)	missense	probably damaging	1.00
R9629:Myo7a	UTSW	7	97,712,937 (GRCm39)	missense	probably benign	0.03
R9662:Myo7a	UTSW	7	97,747,499 (GRCm39)	missense	possibly damaging	0.55
R9709:Myo7a	UTSW	7	97,743,536 (GRCm39)	missense	possibly damaging	0.79
RF005:Myo7a	UTSW	7	97,742,824 (GRCm39)	missense	probably benign	0.42
U15987:Myo7a	UTSW	7	97,714,997 (GRCm39)	nonsense	probably null
X0028:Myo7a	UTSW	7	97,714,932 (GRCm39)	missense	probably damaging	1.00
X0058:Myo7a	UTSW	7	97,711,855 (GRCm39)	missense	probably benign	0.02
Z1176:Myo7a	UTSW	7	97,744,934 (GRCm39)	missense	probably damaging	0.98
Z1177:Myo7a	UTSW	7	97,734,730 (GRCm39)	critical splice acceptor site	probably null
Z1177:Myo7a	UTSW	7	97,701,433 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16