Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Myo7a'

539396

Institutional Source

Beutler Lab

Gene Symbol

Myo7a

Ensembl Gene

ENSMUSG00000030761

Gene Name

myosin VIIA

Synonyms

nmf371, USH1B, polka, Hdb, Myo7

MMRRC Submission

045038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97700267-97768731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97744970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 290 (E290G)

Ref Sequence

ENSEMBL: ENSMUSP00000102744 (fasta)

Gene Model

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

AlphaFold

P97479

PDB Structure

Structure of myosin VIIa MyTH4-FERM-SH3 in complex with the CEN1 of Sans [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000084979
AA Change: E279G

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: E279G

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: E285G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: E285G

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

possibly damaging
Transcript: ENSMUST00000107127
AA Change: E290G

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: E290G

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

possibly damaging
Transcript: ENSMUST00000107128
AA Change: E290G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: E290G

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: ENSMUST00000138627

SMART Domains

Protein: ENSMUSP00000114944
Gene: ENSMUSG00000030761

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205746
AA Change: E279G

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,437,684 (GRCm39)		probably null	Het
Adcy2	A	T	13: 68,768,876 (GRCm39)	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,521,164 (GRCm39)	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,115,951 (GRCm39)	E1018G	probably null	Het
Ccdc175	A	G	12: 72,231,679 (GRCm39)	S27P	probably damaging	Het
Ddx31	C	T	2: 28,782,421 (GRCm39)	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,997,215 (GRCm39)	W504R	probably damaging	Het
Echs1	T	G	7: 139,689,924 (GRCm39)	M239L	probably benign	Het
Eno1b	A	G	18: 48,180,656 (GRCm39)	D278G	probably benign	Het
Eno3	A	G	11: 70,552,262 (GRCm39)	T305A	probably benign	Het
Gm5591	T	A	7: 38,221,614 (GRCm39)	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680 (GRCm39)	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,502,681 (GRCm39)	T79A	probably damaging	Het
Ice1	A	T	13: 70,743,013 (GRCm39)	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,297,419 (GRCm39)	M311T	probably benign	Het
L1td1	T	C	4: 98,622,268 (GRCm39)	F277L	probably benign	Het
Lamp1	T	C	8: 13,222,563 (GRCm39)	I249T	probably damaging	Het
Ldb3	G	A	14: 34,277,321 (GRCm39)	A351V	probably null	Het
Lmo7	A	G	14: 102,155,446 (GRCm39)	E996G	probably damaging	Het
Lsr	T	C	7: 30,657,721 (GRCm39)	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Nos2	C	T	11: 78,842,053 (GRCm39)	T735M	possibly damaging	Het
Or10ak12	A	T	4: 118,666,326 (GRCm39)	L245H	probably damaging	Het
Or11h6	A	G	14: 50,880,680 (GRCm39)	K314R	possibly damaging	Het
Or8g36	T	A	9: 39,422,495 (GRCm39)	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,841,899 (GRCm39)	L768P	probably benign	Het
Plod2	T	A	9: 92,475,823 (GRCm39)	V302D	possibly damaging	Het
Ptgdr	A	T	14: 45,096,067 (GRCm39)	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,770,159 (GRCm39)	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 180,980,070 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,825,388 (GRCm39)	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,088,578 (GRCm39)	T141N	probably damaging	Het
Sp4	G	T	12: 118,262,908 (GRCm39)	N379K	probably damaging	Het
Thrap3	A	G	4: 126,074,285 (GRCm39)		probably benign	Het
Thumpd2	T	G	17: 81,351,543 (GRCm39)	I293L	probably benign	Het
Tjp1	A	G	7: 64,949,436 (GRCm39)	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,889,864 (GRCm39)	S326G	probably benign	Het
Txndc9	A	C	1: 38,034,887 (GRCm39)	S6A	probably benign	Het
Uhrf1	T	C	17: 56,616,574 (GRCm39)	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,741,832 (GRCm39)	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,452,745 (GRCm39)	S105T	probably benign	Het
Zfp445	A	T	9: 122,691,359 (GRCm39)		probably null	Het
Zfp654	A	T	16: 64,606,834 (GRCm39)	M456K	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TACCCTGAGTGGTATGTGGC -3'
(R):5'- GTGACAGTTGAAGGGAACTCC -3'

Sequencing Primer
(F):5'- TATGTGGCACCGTGGGGC -3'
(R):5'- ACCCTGGAGCTGTGTGGATC -3'

Posted On

2018-11-06