Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00465:Myo7a'

332123

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 #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

97700267-97768731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97751833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 70 (M70T)

Ref Sequence

ENSEMBL: ENSMUSP00000114944 (fasta)

Gene Model

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

AlphaFold

P97479

Predicted Effect

probably damaging
Transcript: ENSMUST00000084979
AA Change: M59T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: M59T

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 damaging
Transcript: ENSMUST00000107122
AA Change: M59T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: M59T

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 damaging
Transcript: ENSMUST00000107127
AA Change: M70T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: M70T

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 damaging
Transcript: ENSMUST00000107128
AA Change: M70T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: M70T

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

probably damaging
Transcript: ENSMUST00000138627
AA Change: M70T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114944
Gene: ENSMUSG00000030761
AA Change: M70T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153657

Predicted Effect

probably damaging
Transcript: ENSMUST00000205746
AA Change: M59T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,102 (GRCm39)	S2T	probably damaging	Het
Adamts13	T	A	2: 26,863,567 (GRCm39)	W7R	probably benign	Het
Anks6	T	A	4: 47,046,054 (GRCm39)	D279V	probably damaging	Het
C4bp	A	T	1: 130,566,871 (GRCm39)	L335Q	probably damaging	Het
Cd109	A	T	9: 78,568,216 (GRCm39)	K299*	probably null	Het
Cd200r2	A	T	16: 44,729,651 (GRCm39)	H102L	probably damaging	Het
Col12a1	A	G	9: 79,604,863 (GRCm39)	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 39,990,441 (GRCm39)	F380L	probably benign	Het
Deup1	A	G	9: 15,472,666 (GRCm39)	S549P	probably damaging	Het
Dysf	G	T	6: 84,176,830 (GRCm39)		probably null	Het
Etaa1	A	T	11: 17,897,825 (GRCm39)	C166*	probably null	Het
Fam227b	T	C	2: 125,986,245 (GRCm39)		probably null	Het
Gucy1b2	T	G	14: 62,640,649 (GRCm39)	Q752P	probably benign	Het
Hal	T	C	10: 93,325,931 (GRCm39)		probably null	Het
Hao1	C	A	2: 134,396,190 (GRCm39)	K21N	probably damaging	Het
Itga4	T	C	2: 79,122,394 (GRCm39)	F536L	probably benign	Het
Lmod3	A	T	6: 97,224,822 (GRCm39)	I333N	probably damaging	Het
Mgme1	T	A	2: 144,121,436 (GRCm39)	D297E	probably damaging	Het
Myh2	G	T	11: 67,069,659 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,688,607 (GRCm39)	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,494,845 (GRCm39)	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,015,898 (GRCm39)		probably benign	Het
Nxn	C	A	11: 76,165,481 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,185 (GRCm39)	D551V	probably damaging	Het
Pde4d	A	G	13: 110,073,221 (GRCm39)	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,169,099 (GRCm39)	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,431,582 (GRCm39)	T54A	probably benign	Het
Rif1	T	A	2: 52,011,019 (GRCm39)	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,186,203 (GRCm39)	S276P	probably benign	Het
Scaf4	C	A	16: 90,044,169 (GRCm39)	M601I	unknown	Het
Scart2	A	G	7: 139,874,755 (GRCm39)	Y411C	probably damaging	Het
Setd7	T	A	3: 51,457,729 (GRCm39)	T33S	probably benign	Het
Shroom1	T	A	11: 53,354,921 (GRCm39)	D280E	probably benign	Het
Slc35f2	G	T	9: 53,705,298 (GRCm39)		probably null	Het
Slitrk3	T	A	3: 72,958,436 (GRCm39)	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,967 (GRCm39)		probably benign	Het
Stx6	C	T	1: 155,077,679 (GRCm39)		probably benign	Het
Sun1	A	T	5: 139,220,440 (GRCm39)		probably null	Het
Tbl1xr1	G	A	3: 22,246,432 (GRCm39)		probably null	Het
Tmc2	T	C	2: 130,103,224 (GRCm39)	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 192,877,128 (GRCm39)		probably benign	Het
Trip12	T	G	1: 84,741,582 (GRCm39)	H559P	probably damaging	Het
Trpm1	G	T	7: 63,897,215 (GRCm39)	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,073,119 (GRCm39)	E189G	probably benign	Het
Tubd1	T	C	11: 86,445,894 (GRCm39)		probably benign	Het
Vps13a	T	A	19: 16,729,539 (GRCm39)	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,781,029 (GRCm39)	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,216,780 (GRCm39)	D50G	probably benign	Het
Zfp976	T	A	7: 42,263,109 (GRCm39)	I243L	unknown	Het

Other mutations in Myo7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02389:Myo7a	APN	7	97,756,198 (GRCm39)	critical splice donor site	probably null
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

2015-08-05