Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Myo7b'

506979

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

044438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31998150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 521 (D521E)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: D521E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: D521E

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

Meta Mutation Damage Score

0.5012

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,454,675	P47L	probably damaging	Het
Acot1	T	C	12: 84,016,913	I265T	probably benign	Het
Amotl1	T	C	9: 14,571,655	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,941,500	D1117E	probably damaging	Het
Art4	T	G	6: 136,854,888	N85T	probably damaging	Het
Asb3	C	A	11: 31,085,143	Q462K	probably benign	Het
Atcay	C	T	10: 81,213,280	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,676,533	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,015,927	Q520*	probably null	Het
Baat	A	T	4: 49,502,836	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Ccdc24	G	A	4: 117,871,177	Q47*	probably null	Het
Cep170b	C	A	12: 112,744,559	Q1488K	probably damaging	Het
Cldn24	A	C	8: 47,822,339	D66A	probably benign	Het
Cln5	C	A	14: 103,073,227	T110K	probably damaging	Het
Clvs2	C	A	10: 33,528,515	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,793,764	G730R	unknown	Het
Crim1	C	T	17: 78,370,085	P905L	probably benign	Het
Cxxc4	T	C	3: 134,258,063	V356A	probably benign	Het
Dctn6	G	T	8: 34,094,903	N93K	probably damaging	Het
Dnah9	G	A	11: 66,168,094	A125V	probably benign	Het
Dnhd1	T	C	7: 105,693,370	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,432,371	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,424,060	I546V	probably benign	Het
Fbll1	T	C	11: 35,797,809	E209G	probably damaging	Het
Foxj2	G	A	6: 122,828,174	A2T	probably damaging	Het
Foxs1	A	T	2: 152,932,178	C318*	probably null	Het
Gorab	T	C	1: 163,386,630	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 163,087,663		probably benign	Het
Herc1	T	C	9: 66,372,016	S69P	probably benign	Het
Hpca	C	T	4: 129,118,652	W30*	probably null	Het
Ing3	C	A	6: 21,953,814	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,448,425	E264G	probably damaging	Het
Lair1	T	A	7: 4,055,827		probably benign	Het
Lama1	T	C	17: 67,750,655	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,550,713	G29*	probably null	Het
Loxhd1	A	T	18: 77,361,730	D341V	probably damaging	Het
Lrp2	T	A	2: 69,466,340	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,155	D396V	probably damaging	Het
Me3	T	A	7: 89,849,743	D510E	probably benign	Het
Melk	A	G	4: 44,318,109	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,184,793	V47A	probably benign	Het
Mindy4	T	C	6: 55,301,064	I631T	probably damaging	Het
Myo5b	T	A	18: 74,577,440		probably null	Het
Nlrp9b	T	A	7: 20,062,683	F986I	probably benign	Het
Olfr1089	A	G	2: 86,732,955	L219P	probably damaging	Het
Patj	A	G	4: 98,469,567	D690G	probably benign	Het
Pias2	T	C	18: 77,097,258	S5P	probably damaging	Het
Reep4	A	T	14: 70,547,703	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,196,900	R14G	probably benign	Het
Slc6a6	G	C	6: 91,754,915	R575T	probably damaging	Het
Speg	T	A	1: 75,406,679	Y886*	probably null	Het
Tas2r103	A	C	6: 133,036,531	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,837,924	D145G	probably benign	Het
Tex47	T	A	5: 7,305,461	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,501,645	D3V	probably damaging	Het
Trdv2-1	T	G	14: 53,946,385	S24A	probably benign	Het
Ubr4	A	G	4: 139,452,640	D3377G	possibly damaging	Het
Ugt3a2	A	T	15: 9,361,579	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,541,536	I273V	probably benign	Het
Vmn2r61	T	C	7: 42,266,491	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,808,597	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,335,982		probably benign	Het
Zfp551	C	T	7: 12,415,412	R690Q	probably damaging	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
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
R8984:Myo7b	UTSW	18	31966349	missense	probably null	0.68
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'- TCCTGAGTTGGCTCCTAGTAGG -3'
(R):5'- GCTAAGGACCTGGACAATTTTCC -3'

Sequencing Primer
(F):5'- TTGGCTCCTAGTAGGTCAGACAC -3'
(R):5'- AAAGGAGTAGCCCCTAGTCTCTG -3'

Posted On

2018-03-15