Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Myo7a'

696473

Institutional Source

Beutler Lab

Gene Symbol

Myo7a

Ensembl Gene

ENSMUSG00000030761

Gene Name

myosin VIIA

Synonyms

Myo7, nmf371, polka, Hdb, USH1B

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98051060-98119524 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98083162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 706 (D706G)

Ref Sequence

ENSEMBL: ENSMUSP00000082046 (fasta)

Gene Model

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

AlphaFold

P97479

Predicted Effect

probably benign
Transcript: ENSMUST00000084979
AA Change: D706G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: D706G

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 benign
Transcript: ENSMUST00000107122
AA Change: D712G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: D712G

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 benign
Transcript: ENSMUST00000107127
AA Change: D717G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: D717G

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 benign
Transcript: ENSMUST00000107128
AA Change: D717G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: D717G

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 benign
Transcript: ENSMUST00000205746
AA Change: D706G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0636

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	Het

Other mutations in Myo7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Myo7a	APN	7	98102626	missense	probably damaging	1.00
IGL00785:Myo7a	APN	7	98054348	missense	probably damaging	0.99
IGL00840:Myo7a	APN	7	98051659	missense	probably benign	0.25
IGL01362:Myo7a	APN	7	98097702	missense	probably damaging	1.00
IGL01484:Myo7a	APN	7	98085422	missense	probably damaging	1.00
IGL01673:Myo7a	APN	7	98054708	missense	probably benign	0.00
IGL01933:Myo7a	APN	7	98083142	missense	probably damaging	1.00
IGL01943:Myo7a	APN	7	98065647	missense	possibly damaging	0.96
IGL02188:Myo7a	APN	7	98091027	missense	probably damaging	0.96
IGL02304:Myo7a	APN	7	98077736	missense	possibly damaging	0.89
IGL02305:Myo7a	APN	7	98051629	makesense	probably null
IGL02331:Myo7a	APN	7	98053182	missense	possibly damaging	0.95
IGL02386:Myo7a	APN	7	98075112	missense	probably damaging	0.99
IGL02389:Myo7a	APN	7	98106991	critical splice donor site	probably null
IGL02832:Myo7a	APN	7	98091020	critical splice donor site	probably null
IGL02839:Myo7a	APN	7	98091122	missense	probably damaging	1.00
IGL03193:Myo7a	APN	7	98091057	missense	probably damaging	1.00
IGL03237:Myo7a	APN	7	98102593	missense	probably damaging	1.00
IGL03384:Myo7a	APN	7	98093593	missense	probably damaging	1.00
coward	UTSW	7	98085466	missense	probably damaging	1.00
H8786:Myo7a	UTSW	7	98095778	missense	possibly damaging	0.61
IGL03046:Myo7a	UTSW	7	98079327	missense	probably damaging	1.00
IGL03134:Myo7a	UTSW	7	98056767	missense	probably damaging	0.96
PIT4696001:Myo7a	UTSW	7	98063599	missense	probably benign	0.00
R0054:Myo7a	UTSW	7	98065698	missense	probably damaging	1.00
R0054:Myo7a	UTSW	7	98065698	missense	probably damaging	1.00
R0071:Myo7a	UTSW	7	98056830	missense	probably damaging	0.98
R0071:Myo7a	UTSW	7	98056830	missense	probably damaging	0.98
R0267:Myo7a	UTSW	7	98054624	missense	probably benign	0.08
R0408:Myo7a	UTSW	7	98056781	missense	probably damaging	1.00
R0411:Myo7a	UTSW	7	98071937	missense	probably benign	0.00
R0540:Myo7a	UTSW	7	98071946	missense	probably damaging	1.00
R0607:Myo7a	UTSW	7	98071946	missense	probably damaging	1.00
R0629:Myo7a	UTSW	7	98085466	missense	probably damaging	1.00
R0632:Myo7a	UTSW	7	98112150	intron	probably benign
R0659:Myo7a	UTSW	7	98054338	splice site	probably benign
R0735:Myo7a	UTSW	7	98081180	splice site	probably benign
R0924:Myo7a	UTSW	7	98098256	missense	probably damaging	0.99
R0930:Myo7a	UTSW	7	98098256	missense	probably damaging	0.99
R1018:Myo7a	UTSW	7	98107005	missense	probably damaging	1.00
R1196:Myo7a	UTSW	7	98097673	missense	possibly damaging	0.87
R1331:Myo7a	UTSW	7	98107008	missense	probably benign	0.00
R1487:Myo7a	UTSW	7	98053810	critical splice donor site	probably null
R1676:Myo7a	UTSW	7	98099472	critical splice donor site	probably null
R1695:Myo7a	UTSW	7	98092496	missense	possibly damaging	0.94
R1770:Myo7a	UTSW	7	98112606	intron	probably benign
R1781:Myo7a	UTSW	7	98073124	missense	probably damaging	1.00
R1789:Myo7a	UTSW	7	98107095	missense	probably damaging	0.99
R1827:Myo7a	UTSW	7	98076731	missense	probably damaging	0.99
R1864:Myo7a	UTSW	7	98052256	missense	probably damaging	1.00
R1955:Myo7a	UTSW	7	98054921	missense	probably damaging	1.00
R2011:Myo7a	UTSW	7	98054708	missense	possibly damaging	0.69
R2229:Myo7a	UTSW	7	98054910	missense	probably benign	0.12
R2259:Myo7a	UTSW	7	98069499	missense	probably damaging	1.00
R2443:Myo7a	UTSW	7	98095769	missense	probably benign	0.07
R2898:Myo7a	UTSW	7	98054424	nonsense	probably null
R2898:Myo7a	UTSW	7	98097206	missense	probably damaging	1.00
R3158:Myo7a	UTSW	7	98052292	missense	probably damaging	1.00
R3408:Myo7a	UTSW	7	98081087	missense	probably benign	0.00
R4222:Myo7a	UTSW	7	98073229	missense	possibly damaging	0.93
R4255:Myo7a	UTSW	7	98071964	missense	probably damaging	0.96
R4374:Myo7a	UTSW	7	98102674	missense	probably damaging	1.00
R4429:Myo7a	UTSW	7	98053188	missense	probably damaging	0.99
R4445:Myo7a	UTSW	7	98066404	missense	probably damaging	1.00
R4579:Myo7a	UTSW	7	98073193	missense	probably damaging	1.00
R4659:Myo7a	UTSW	7	98085466	missense	probably damaging	1.00
R5073:Myo7a	UTSW	7	98073218	nonsense	probably null
R5138:Myo7a	UTSW	7	98083599	missense	probably damaging	1.00
R5566:Myo7a	UTSW	7	98064816	missense	possibly damaging	0.93
R5580:Myo7a	UTSW	7	98073160	missense	probably damaging	1.00
R6079:Myo7a	UTSW	7	98065790	nonsense	probably null
R6138:Myo7a	UTSW	7	98065790	nonsense	probably null
R6451:Myo7a	UTSW	7	98073167	missense	probably benign	0.01
R6452:Myo7a	UTSW	7	98073167	missense	probably benign	0.01
R6453:Myo7a	UTSW	7	98073167	missense	probably benign	0.01
R6454:Myo7a	UTSW	7	98073167	missense	probably benign	0.01
R6455:Myo7a	UTSW	7	98073167	missense	probably benign	0.01
R6465:Myo7a	UTSW	7	98062680	missense	possibly damaging	0.95
R6653:Myo7a	UTSW	7	98054503	missense	probably damaging	0.96
R6709:Myo7a	UTSW	7	98054699	missense	probably damaging	1.00
R6917:Myo7a	UTSW	7	98095763	missense	possibly damaging	0.58
R7313:Myo7a	UTSW	7	98064195	missense	probably damaging	0.99
R7334:Myo7a	UTSW	7	98079366	missense	probably benign
R7356:Myo7a	UTSW	7	98102683	missense	probably benign	0.01
R7393:Myo7a	UTSW	7	98063699	missense	possibly damaging	0.91
R7422:Myo7a	UTSW	7	98051626	splice site	probably null
R7472:Myo7a	UTSW	7	98064793	missense	probably damaging	1.00
R7483:Myo7a	UTSW	7	98063674	missense	probably benign	0.07
R7526:Myo7a	UTSW	7	98085448	missense	possibly damaging	0.49
R7948:Myo7a	UTSW	7	98075029	missense	probably damaging	1.00
R8069:Myo7a	UTSW	7	98083626	nonsense	probably null
R8115:Myo7a	UTSW	7	98066446	missense	probably damaging	0.98
R8150:Myo7a	UTSW	7	98063639	missense	probably benign	0.19
R8265:Myo7a	UTSW	7	98085397	missense	probably benign	0.00
R8289:Myo7a	UTSW	7	98077169	missense	probably benign
R8298:Myo7a	UTSW	7	98098334	missense	probably damaging	1.00
R8518:Myo7a	UTSW	7	98091063	missense	possibly damaging	0.58
R8539:Myo7a	UTSW	7	98072461	missense	probably damaging	0.99
R8557:Myo7a	UTSW	7	98053874	missense	probably benign	0.08
R8685:Myo7a	UTSW	7	98097127	missense	probably benign	0.03
R8902:Myo7a	UTSW	7	98092613	missense	probably damaging	1.00
R9034:Myo7a	UTSW	7	98079258	missense	probably benign	0.40
R9090:Myo7a	UTSW	7	98091074	missense	probably benign	0.04
R9271:Myo7a	UTSW	7	98091074	missense	probably benign	0.04
R9334:Myo7a	UTSW	7	98067162	missense	probably damaging	1.00
R9356:Myo7a	UTSW	7	98076666	missense	probably benign	0.11
R9444:Myo7a	UTSW	7	98093491	missense	possibly damaging	0.84
R9459:Myo7a	UTSW	7	98073173	missense	possibly damaging	0.65
R9513:Myo7a	UTSW	7	98097611	critical splice donor site	probably null
R9517:Myo7a	UTSW	7	98071959	missense	probably damaging	1.00
R9629:Myo7a	UTSW	7	98063730	missense	probably benign	0.03
R9662:Myo7a	UTSW	7	98098292	missense	possibly damaging	0.55
R9709:Myo7a	UTSW	7	98094329	missense	possibly damaging	0.79
RF005:Myo7a	UTSW	7	98093617	missense	probably benign	0.42
U15987:Myo7a	UTSW	7	98065790	nonsense	probably null
X0028:Myo7a	UTSW	7	98065725	missense	probably damaging	1.00
X0058:Myo7a	UTSW	7	98062648	missense	probably benign	0.02
Z1176:Myo7a	UTSW	7	98095727	missense	probably damaging	0.98
Z1177:Myo7a	UTSW	7	98052226	missense	probably damaging	0.98
Z1177:Myo7a	UTSW	7	98085523	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTGGCACCATGAGTTATC -3'
(R):5'- TTGGCTTGAGGAGAAAACAGATTTC -3'

Sequencing Primer
(F):5'- GGCACCATGAGTTATCTCTAATGCAC -3'
(R):5'- GGGGCCTTTCCATTAGT -3'

Posted On

2022-02-07