Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:Myo7b'

683930

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31966349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1673 (K1673N)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134663]

AlphaFold

Q99MZ6

Predicted Effect

probably null
Transcript: ENSMUST00000134663
AA Change: K1673N

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: K1673N

Domain	Start	End	E-Value	Type
MYSc	59	761	N/A	SMART
IQ	762	784	1.07e-1	SMART
IQ	785	807	7.01e-6	SMART
IQ	831	853	4.93e-1	SMART
IQ	854	876	1.63e-1	SMART
MyTH4	989	1189	1.14e-71	SMART
B41	1190	1409	3.66e-16	SMART
SH3	1501	1563	3.25e-7	SMART
MyTH4	1641	1790	7.66e-55	SMART
B41	1792	2009	8.19e-28	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,351,815	V10E	probably benign	Het
Adss	A	T	1: 177,773,714		probably benign	Het
AI467606	A	T	7: 127,092,501	I83F	probably damaging	Het
Atn1	A	T	6: 124,746,960	W437R	unknown	Het
Atxn7l2	T	C	3: 108,208,974		probably benign	Het
AU040320	T	C	4: 126,841,143	F750S	possibly damaging	Het
B3gnt6	A	G	7: 98,193,614	S380P	probably benign	Het
Bod1l	T	C	5: 41,788,872	Q3020R	probably damaging	Het
Borcs6	A	T	11: 69,060,002	I69F	probably benign	Het
Brd7	T	A	8: 88,354,712	M170L	probably benign	Het
Ccdc191	T	A	16: 43,890,218		probably benign	Het
Cit	C	T	5: 115,926,475	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,557,389	D57E	probably benign	Het
Dnah7a	A	T	1: 53,635,277	L447*	probably null	Het
Epb41l3	A	G	17: 69,247,646	D247G	probably damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etaa1	A	T	11: 17,940,254	V869E	probably damaging	Het
Exoc8	T	A	8: 124,896,030	I533F	probably benign	Het
Fam117a	A	G	11: 95,363,997		probably null	Het
Fam222a	C	T	5: 114,611,031	T96I	possibly damaging	Het
Fam71b	C	A	11: 46,404,868	Y22*	probably null	Het
Farsa	C	T	8: 84,867,599	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,841,401	D12V	probably damaging	Het
Gc	C	T	5: 89,441,562		probably null	Het
Git2	T	C	5: 114,730,195	E705G	probably damaging	Het
Gm10318	G	A	10: 77,853,244	C128Y	unknown	Het
Hcar2	G	A	5: 123,864,508	R311*	probably null	Het
Hira	A	G	16: 18,927,511	Q468R	possibly damaging	Het
Hist1h3c	C	A	13: 23,745,410	A30S	probably benign	Het
Hspa1l	T	C	17: 34,978,116	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,555,675	W14R	probably damaging	Het
Itga3	A	T	11: 95,062,565	L317Q	probably damaging	Het
Jade2	A	C	11: 51,825,079	L433W	probably damaging	Het
Kif21a	T	C	15: 90,956,356	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,042,173	C82F	unknown	Het
Ksr1	G	A	11: 79,040,883	T333M	probably damaging	Het
Msi1	T	C	5: 115,435,539	F132S	probably damaging	Het
Myom3	T	A	4: 135,787,944	N716K		Het
Ndst4	G	A	3: 125,722,161	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,052,782	V144A	probably benign	Het
Olfr135	A	G	17: 38,208,413	H56R	probably damaging	Het
Olfr328	G	C	11: 58,551,383	N285K	probably damaging	Het
Olfr558	T	A	7: 102,710,012	I251N	possibly damaging	Het
Olfr594	T	C	7: 103,220,186	L156P	possibly damaging	Het
Olfr628	T	C	7: 103,732,013	I29T	probably damaging	Het
Olfr64	G	A	7: 103,893,609	T42I	probably benign	Het
Omd	T	C	13: 49,590,100	S209P	possibly damaging	Het
Patl1	T	A	19: 11,921,396	Y152N	probably damaging	Het
Plaur	T	A	7: 24,465,152	M27K	probably benign	Het
Ppfia2	T	A	10: 106,858,578		probably benign	Het
Ppfia3	A	G	7: 45,340,676	V1142A	probably damaging	Het
Psg28	T	A	7: 18,423,056	N418I	probably damaging	Het
Ptprd	A	T	4: 75,945,014	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,695,818		probably null	Het
Rgs18	A	G	1: 144,753,828	V231A	probably benign	Het
Rnf112	T	C	11: 61,452,451	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,548,184	V150G	probably damaging	Het
Rxrg	G	A	1: 167,634,436	V350I	possibly damaging	Het
Sash1	A	G	10: 8,751,044	I192T	possibly damaging	Het
Slc25a36	G	A	9: 97,079,206	T259I	probably benign	Het
Smarcd3	T	A	5: 24,593,988	E324V	probably null	Het
St3gal4	A	G	9: 35,055,648	V2A	possibly damaging	Het
Stk17b	A	C	1: 53,757,625	S328A	probably benign	Het
Tbrg1	A	G	9: 37,652,653	Y229H	probably damaging	Het
Tdg	A	G	10: 82,648,680	N409S	probably benign	Het
Terb1	T	C	8: 104,485,404	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,828,147	F402L	probably benign	Het
Trav4-2	T	C	14: 53,418,733	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,684,117	T91A	probably benign	Het
Xdh	C	T	17: 73,921,351	G352R	probably damaging	Het
Zfp551	C	A	7: 12,422,632		probably benign	Het

Other mutations in Myo7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Myo7b	APN	18	32021556	utr 5 prime	probably benign
IGL01799:Myo7b	APN	18	31962770	missense	probably damaging	1.00
IGL01881:Myo7b	APN	18	32000267	splice site	probably benign
IGL01883:Myo7b	APN	18	31998151	missense	probably damaging	1.00
IGL01934:Myo7b	APN	18	32001341	critical splice donor site	probably null
IGL01980:Myo7b	APN	18	31961900	missense	possibly damaging	0.86
IGL02506:Myo7b	APN	18	31967154	missense	probably damaging	1.00
IGL02704:Myo7b	APN	18	31966961	missense	probably benign	0.13
IGL02929:Myo7b	APN	18	31994925	missense	probably benign	0.19
IGL03149:Myo7b	APN	18	32014302	missense	probably damaging	1.00
IGL03335:Myo7b	APN	18	31985020	missense	possibly damaging	0.81
IGL03372:Myo7b	APN	18	31998601	missense	probably damaging	1.00
IGL03385:Myo7b	APN	18	31989577	missense	probably benign	0.00
PIT4131001:Myo7b	UTSW	18	31961206	missense	probably benign	0.17
PIT4445001:Myo7b	UTSW	18	31959466	missense	possibly damaging	0.80
PIT4445001:Myo7b	UTSW	18	31962352	missense	probably damaging	0.96
R0034:Myo7b	UTSW	18	31960860	missense	probably damaging	1.00
R0138:Myo7b	UTSW	18	32010151	missense	probably damaging	1.00
R0149:Myo7b	UTSW	18	32014209	missense	probably damaging	1.00
R0226:Myo7b	UTSW	18	31972896	missense	probably benign	0.00
R0312:Myo7b	UTSW	18	32014337	missense	possibly damaging	0.68
R0361:Myo7b	UTSW	18	32014209	missense	probably damaging	1.00
R0506:Myo7b	UTSW	18	31964386	critical splice donor site	probably null
R0524:Myo7b	UTSW	18	32013424	missense	possibly damaging	0.91
R0645:Myo7b	UTSW	18	31994909	missense	probably benign	0.10
R0724:Myo7b	UTSW	18	32005549	splice site	probably benign
R0731:Myo7b	UTSW	18	31961825	splice site	probably null
R0762:Myo7b	UTSW	18	31983944	missense	probably benign	0.01
R0843:Myo7b	UTSW	18	31974084	missense	possibly damaging	0.83
R0894:Myo7b	UTSW	18	32000070	missense	probably damaging	1.00
R0966:Myo7b	UTSW	18	31998763	missense	probably damaging	1.00
R1205:Myo7b	UTSW	18	31994342	missense	probably damaging	1.00
R1387:Myo7b	UTSW	18	31983752	splice site	probably benign
R1523:Myo7b	UTSW	18	31966876	missense	probably damaging	1.00
R1544:Myo7b	UTSW	18	31994909	missense	probably benign	0.10
R1623:Myo7b	UTSW	18	32000051	missense	probably damaging	1.00
R1780:Myo7b	UTSW	18	31961185	missense	probably damaging	1.00
R1785:Myo7b	UTSW	18	31994897	missense	probably benign
R1786:Myo7b	UTSW	18	31994897	missense	probably benign
R1796:Myo7b	UTSW	18	31986675	missense	possibly damaging	0.93
R1907:Myo7b	UTSW	18	31976999	missense	possibly damaging	0.89
R2027:Myo7b	UTSW	18	31984960	missense	probably benign
R2102:Myo7b	UTSW	18	31999978	missense	probably damaging	1.00
R2174:Myo7b	UTSW	18	31983557	missense	probably damaging	1.00
R2272:Myo7b	UTSW	18	31977043	missense	probably benign	0.41
R2323:Myo7b	UTSW	18	31971345	missense	probably damaging	1.00
R2365:Myo7b	UTSW	18	32014331	missense	probably damaging	0.98
R3078:Myo7b	UTSW	18	31967184	missense	probably benign	0.04
R3522:Myo7b	UTSW	18	32010079	missense	probably damaging	1.00
R3788:Myo7b	UTSW	18	31974112	missense	possibly damaging	0.95
R3880:Myo7b	UTSW	18	31969514	missense	probably damaging	0.96
R4334:Myo7b	UTSW	18	31976987	missense	probably damaging	1.00
R4343:Myo7b	UTSW	18	31983627	missense	probably damaging	1.00
R4497:Myo7b	UTSW	18	32014229	missense	probably benign	0.06
R4498:Myo7b	UTSW	18	32014229	missense	probably benign	0.06
R4551:Myo7b	UTSW	18	31985108	missense	probably benign	0.01
R4593:Myo7b	UTSW	18	32013375	missense	possibly damaging	0.77
R4616:Myo7b	UTSW	18	32003487	splice site	probably null
R4646:Myo7b	UTSW	18	31994369	missense	probably benign	0.25
R4648:Myo7b	UTSW	18	31967125	splice site	probably null
R4737:Myo7b	UTSW	18	31998602	missense	probably damaging	1.00
R4765:Myo7b	UTSW	18	31961900	missense	probably benign	0.00
R4790:Myo7b	UTSW	18	32000105	splice site	probably null
R4909:Myo7b	UTSW	18	31964436	missense	probably benign	0.01
R5027:Myo7b	UTSW	18	31975212	missense	probably benign	0.22
R5034:Myo7b	UTSW	18	31971387	missense	probably damaging	1.00
R5112:Myo7b	UTSW	18	31983587	missense	probably damaging	1.00
R5266:Myo7b	UTSW	18	31998734	missense	probably damaging	1.00
R5267:Myo7b	UTSW	18	31998734	missense	probably damaging	1.00
R5348:Myo7b	UTSW	18	31983919	missense	probably damaging	0.96
R5457:Myo7b	UTSW	18	31971450	splice site	probably null
R5540:Myo7b	UTSW	18	32007090	missense	probably damaging	1.00
R5628:Myo7b	UTSW	18	31974187	missense	probably benign
R5815:Myo7b	UTSW	18	31966288	missense	probably damaging	1.00
R6062:Myo7b	UTSW	18	31967990	missense	possibly damaging	0.94
R6137:Myo7b	UTSW	18	31999974	missense	probably damaging	1.00
R6158:Myo7b	UTSW	18	31988549	missense	probably benign	0.00
R6218:Myo7b	UTSW	18	31959454	missense	probably benign	0.10
R6256:Myo7b	UTSW	18	31983695	missense	probably damaging	1.00
R6257:Myo7b	UTSW	18	32013415	missense	probably damaging	1.00
R6265:Myo7b	UTSW	18	31998150	missense	probably damaging	1.00
R6302:Myo7b	UTSW	18	31994386	missense	probably damaging	0.98
R6438:Myo7b	UTSW	18	31966329	missense	probably damaging	1.00
R6654:Myo7b	UTSW	18	31990269	missense	possibly damaging	0.46
R7030:Myo7b	UTSW	18	31971573	missense	probably damaging	1.00
R7090:Myo7b	UTSW	18	31998712	missense	probably damaging	1.00
R7210:Myo7b	UTSW	18	32007102	missense	probably damaging	1.00
R7218:Myo7b	UTSW	18	31981001	missense	probably benign	0.05
R7378:Myo7b	UTSW	18	31966239	missense	probably damaging	1.00
R7458:Myo7b	UTSW	18	31988551	missense	possibly damaging	0.89
R7517:Myo7b	UTSW	18	32013267	missense	probably damaging	0.99
R7559:Myo7b	UTSW	18	31983360	missense	probably benign	0.01
R7667:Myo7b	UTSW	18	31961905	missense	probably benign
R7737:Myo7b	UTSW	18	32014204	nonsense	probably null
R7942:Myo7b	UTSW	18	32013369	missense	probably damaging	0.98
R8030:Myo7b	UTSW	18	31998082	missense	probably damaging	0.96
R8114:Myo7b	UTSW	18	31965624	missense	probably damaging	1.00
R8338:Myo7b	UTSW	18	31971355	missense	probably damaging	0.96
R8341:Myo7b	UTSW	18	31983926	missense	probably benign	0.39
R8406:Myo7b	UTSW	18	31959813	missense	probably damaging	1.00
R8464:Myo7b	UTSW	18	31962704	missense	probably benign	0.00
R8517:Myo7b	UTSW	18	31967191	missense	possibly damaging	0.87
R8537:Myo7b	UTSW	18	31977089	missense	probably benign	0.08
R8546:Myo7b	UTSW	18	31990148	missense	probably benign	0.19
R8721:Myo7b	UTSW	18	32007011	missense	probably damaging	1.00
R8770:Myo7b	UTSW	18	31981071	missense	probably benign	0.03
R8841:Myo7b	UTSW	18	31964437	missense	probably benign	0.06
R8853:Myo7b	UTSW	18	31986691	missense	possibly damaging	0.67
R8960:Myo7b	UTSW	18	31994246	splice site	probably benign
R9356:Myo7b	UTSW	18	31977043	missense	probably damaging	1.00
R9357:Myo7b	UTSW	18	31960076	missense	probably damaging	1.00
R9364:Myo7b	UTSW	18	32000360	missense	probably benign	0.12
R9405:Myo7b	UTSW	18	31976303	missense	probably benign	0.00
R9533:Myo7b	UTSW	18	31975244	missense	probably benign	0.27
R9776:Myo7b	UTSW	18	32000015	missense	probably benign	0.45
X0027:Myo7b	UTSW	18	31965636	missense	probably damaging	1.00
Z1176:Myo7b	UTSW	18	31980998	missense	possibly damaging	0.82
Z1177:Myo7b	UTSW	18	31985056	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGATATGTGGCTGTTTCCCC -3'
(R):5'- ACTGGTCCAGAGGTCAACTG -3'

Sequencing Primer
(F):5'- TAGCAGAGGCATATCCCAGCG -3'
(R):5'- CAACTGGGGACTTGGTTCAG -3'

Posted On

2021-10-11