Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Myo7b'

401809

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5267 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31998734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 470 (F470L)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: F470L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: F470L

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

0.8824

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	C	5: 90,584,857	F509S	probably damaging	Het
Abca12	T	A	1: 71,335,774		probably benign	Het
Adam15	T	G	3: 89,349,899		probably benign	Het
Atp12a	T	C	14: 56,384,211	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,762,544	T393I	probably damaging	Het
B4galnt4	T	G	7: 141,070,611	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,827,051	T536I	probably benign	Het
Brsk1	G	T	7: 4,704,709	W284L	probably damaging	Het
C87977	A	T	4: 144,213,005		probably benign	Het
Cadm3	A	T	1: 173,337,102	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,668	I207T	possibly damaging	Het
Calr4	A	C	4: 109,244,076	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,717,066	T307M	probably damaging	Het
Ckap5	T	A	2: 91,591,752	N1166K	probably null	Het
Clca4a	G	A	3: 144,953,812	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,126,633		probably null	Het
Diaph3	A	G	14: 86,656,553	S7P	probably benign	Het
Dnah7a	G	A	1: 53,479,692	P2969S	probably damaging	Het
Dnaic2	A	T	11: 114,740,467	T221S	probably benign	Het
Dsc2	A	G	18: 20,034,583		probably null	Het
Eif4g1	A	G	16: 20,685,533	N789S	probably damaging	Het
Fn1	C	T	1: 71,629,704	R694H	probably damaging	Het
Gm5478	G	A	15: 101,644,402	R365C	probably damaging	Het
Gm5591	A	T	7: 38,518,914	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,713,837		probably null	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,343,179	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,674,674	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,344,824	I3146T	probably benign	Het
Herc1	G	T	9: 66,461,809	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,544,169	A202V	probably benign	Het
Ikzf3	A	T	11: 98,490,580	M58K	probably benign	Het
Il20ra	A	G	10: 19,749,359	T129A	probably damaging	Het
Il21	T	C	3: 37,227,797	H66R	probably benign	Het
Kcnh5	A	T	12: 75,087,416	M453K	probably damaging	Het
Kdf1	C	G	4: 133,528,947	A325G	probably damaging	Het
Klhl10	C	T	11: 100,447,221	A262V	probably benign	Het
Krt81	T	A	15: 101,459,459	N464I	probably benign	Het
Ksr1	A	T	11: 79,020,425	I698N	probably damaging	Het
Lrp2	A	G	2: 69,548,978	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,897,450	T25A	probably benign	Het
Mrps18c	T	A	5: 100,803,094	Y93*	probably null	Het
Mycl	C	T	4: 123,000,496	A363V	probably damaging	Het
Mylk2	C	A	2: 152,913,549	A211E	probably benign	Het
Myo5a	G	A	9: 75,152,010	D507N	probably damaging	Het
Oas1a	A	T	5: 120,899,221	C248S	probably benign	Het
Olfr1036	T	A	2: 86,075,538	V266E	probably benign	Het
Olfr1229	C	T	2: 89,282,230	W301*	probably null	Het
Olfr1471	A	G	19: 13,445,111	Y33C	probably damaging	Het
Olfr26	G	A	9: 38,855,805	V248M	probably damaging	Het
Olfr492	A	G	7: 108,322,978	S233P	probably damaging	Het
Olfr612	T	C	7: 103,538,824	I137V	probably benign	Het
Olfr701	T	C	7: 106,818,808	S242P	probably damaging	Het
Otub1	C	A	19: 7,199,992	G67C	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Paqr8	A	G	1: 20,934,696	I25V	probably benign	Het
Pcdh1	A	G	18: 38,192,199	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,260,809		probably benign	Het
Pdzd8	C	A	19: 59,301,026	K647N	probably damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Praf2	T	C	X: 7,730,402		probably benign	Het
Psg25	A	T	7: 18,524,786	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,635,766	E402G	probably damaging	Het
Selenok	T	A	14: 29,970,065	V20E	probably benign	Het
Sipa1	G	A	19: 5,655,758	T394I	probably benign	Het
Spag17	A	T	3: 100,061,948	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,035,904	D420G	probably damaging	Het
Syk	A	G	13: 52,641,926	K519R	probably benign	Het
Syne2	A	T	12: 75,938,741	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,869,676	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,602	E941V	probably damaging	Het
Tjp1	T	C	7: 65,323,049	T548A	probably damaging	Het
Tube1	C	A	10: 39,144,556	D210E	probably benign	Het
Vmn1r183	T	A	7: 24,055,546	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 13,220,213	N292I	probably damaging	Het
Vmp1	C	A	11: 86,663,551	V79L	probably benign	Het
Zfp182	T	A	X: 21,036,366	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,662,230	T320P	probably damaging	Het
Znrf1	G	A	8: 111,537,267	A43T	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
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
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'- TGCTTGACCTCTGAGGAGAG -3'
(R):5'- ACCCATGAGGCTTTGTGTG -3'

Sequencing Primer
(F):5'- GACTCAGAAAGTAGGTTGTATTCAG -3'
(R):5'- CATGTGGCATATGTCTGGGGC -3'

Posted On

2016-07-06