Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Myo7b'

220877

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

040035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31984960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 871 (V871A)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: V871A

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: V871A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,742,587	M55T	possibly damaging	Het
4932438A13Rik	T	A	3: 37,047,961		probably benign	Het
A4gnt	T	C	9: 99,620,201	V138A	possibly damaging	Het
Aatk	A	G	11: 120,009,317	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,595,182	V67M	probably damaging	Het
Apoa4	G	A	9: 46,243,000	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,731,385	V112E	possibly damaging	Het
Cabp2	T	A	19: 4,087,126	M166K	probably damaging	Het
Camsap1	A	G	2: 25,938,526	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,862,893		probably benign	Het
Caprin2	A	G	6: 148,877,887	Y141H	probably damaging	Het
Card11	T	C	5: 140,906,767	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874	V259A	probably benign	Het
Chd9	A	G	8: 90,907,991		probably benign	Het
Col12a1	T	C	9: 79,645,793		probably null	Het
Cuzd1	T	C	7: 131,320,091	T61A	possibly damaging	Het
Dbp	C	A	7: 45,708,276	D89E	probably benign	Het
Dhps	A	T	8: 85,072,611	N140Y	probably damaging	Het
Dido1	A	T	2: 180,689,181	L158*	probably null	Het
Dnah9	T	G	11: 65,955,338	N2958T	probably benign	Het
Dpp8	T	A	9: 65,078,774	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,583,004		probably benign	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Fam92a	T	A	4: 12,171,216	D79V	probably damaging	Het
Faxc	T	C	4: 21,958,439		probably benign	Het
Frem3	G	T	8: 80,695,337	C2122F	possibly damaging	Het
Gan	T	C	8: 117,187,499		probably null	Het
Gm11487	A	G	4: 73,403,058	I154T	possibly damaging	Het
Gnl1	A	G	17: 35,982,958	N274D	probably benign	Het
Hook3	T	C	8: 26,038,098	E588G	probably damaging	Het
Itpr1	C	A	6: 108,386,853	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075		probably benign	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Mepe	T	C	5: 104,327,091	S13P	possibly damaging	Het
Myh11	A	G	16: 14,232,668	Y478H	probably damaging	Het
Nckap1	A	T	2: 80,535,518	M466K	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1025-ps1	A	C	2: 85,918,770	S282R	probably damaging	Het
Olfr1107	T	A	2: 87,071,553	N194Y	possibly damaging	Het
Olfr1413	A	T	1: 92,573,767	T199S	probably damaging	Het
Olfr582	A	T	7: 103,041,524	H15L	probably benign	Het
Olfr731	A	G	14: 50,237,949	I312T	probably benign	Het
Olfr825	A	G	10: 130,162,735	I197T	probably benign	Het
Otof	T	C	5: 30,421,014	T97A	probably benign	Het
Peli2	G	A	14: 48,256,145	E275K	probably benign	Het
Pik3c2a	T	C	7: 116,350,822	Y1320C	probably damaging	Het
Pkn1	A	G	8: 83,671,378	V795A	probably damaging	Het
Pramel5	A	G	4: 144,271,704	L323P	probably damaging	Het
Prr5	A	T	15: 84,701,379	R183W	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rabgef1	A	G	5: 130,208,779	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,954,937	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 57,839,095	Q47K	probably benign	Het
Sclt1	G	A	3: 41,730,888	T45I	probably benign	Het
Slc22a17	A	G	14: 54,908,086	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,463,410		probably benign	Het
Slc7a9	G	A	7: 35,454,137	V188M	probably damaging	Het
Tmem161a	T	A	8: 70,177,520	F119I	probably damaging	Het
Tmem240	A	G	4: 155,735,435	D32G	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,947,015	V262M	probably benign	Het
Vmn1r87	G	A	7: 13,131,896	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,522,072	Q236L	probably benign	Het
Vmn2r97	T	A	17: 18,929,682	I444N	unknown	Het
Wisp1	A	G	15: 66,917,409	E248G	possibly damaging	Het
Yif1a	A	T	19: 5,089,872	H115L	probably damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp579	C	A	7: 4,993,521	E464*	probably null	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
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
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'- CCAGGATATAATGGACTCTTGCTG -3'
(R):5'- GATCCTAGTGGGCTTTGAACGC -3'

Sequencing Primer
(F):5'- TGGACTCTTGCTGTATTTCTAAAAAC -3'
(R):5'- GGCTTTGAACGCCTGCAG -3'

Posted On

2014-08-25