Mutagenetix > Incidental Mutations

Incidental Mutation 'R7667:Myo7b'

592018

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31961905 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1879 (V1879A)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025254] [ENSMUST00000134663] [ENSMUST00000223753] [ENSMUST00000224328]

Predicted Effect

probably benign
Transcript: ENSMUST00000025254

SMART Domains

Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395

Domain	Start	End	E-Value	Type
LIM	14	67	1.15e-14	SMART
LIM	75	126	2.74e-12	SMART
LIM	139	189	3.87e-12	SMART
LIM	197	248	4.31e-19	SMART
LIM	256	308	2.67e-15	SMART
low complexity region	314	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: V1879A

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: V1879A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223753

Predicted Effect

probably benign
Transcript: ENSMUST00000224328

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,333,952		probably null	Het
Adgrf5	A	C	17: 43,446,039	I675L	probably benign	Het
Arhgap24	T	A	5: 102,878,457	M248K	probably benign	Het
Chl1	G	A	6: 103,695,495	D566N	possibly damaging	Het
Cntn4	A	T	6: 106,679,895	I908F	possibly damaging	Het
Cyld	T	C	8: 88,742,302	I752T	probably benign	Het
Cyp26a1	C	A	19: 37,700,624	L336I	possibly damaging	Het
Dlg2	A	G	7: 92,438,156		probably null	Het
Dmkn	G	A	7: 30,777,609	G446D	probably damaging	Het
Dnajc25	T	C	4: 59,020,356	Y260H	probably damaging	Het
Dnm3	C	A	1: 162,011,830	R186L	probably damaging	Het
Dst	C	T	1: 34,179,035	H1519Y	possibly damaging	Het
Eif1ad	A	G	19: 5,368,215	H9R	probably damaging	Het
Epha3	A	T	16: 63,566,600	I891N	probably benign	Het
Epx	T	C	11: 87,874,311	T187A	probably damaging	Het
Fbln2	T	G	6: 91,233,667	Y198D	probably damaging	Het
Fhod3	A	G	18: 25,001,944	I371V	probably benign	Het
Gm11639	C	T	11: 104,751,911	T1120I	possibly damaging	Het
Gm4922	C	T	10: 18,784,348	V209I	probably damaging	Het
Gucy1a2	G	A	9: 3,759,580	G462D	probably damaging	Het
Gzmd	T	C	14: 56,131,252	T62A	probably damaging	Het
Hnrnpul1	A	T	7: 25,754,421	L72Q	probably damaging	Het
Ifi211	A	T	1: 173,899,454	W375R	probably damaging	Het
Il1rl2	C	A	1: 40,365,253	H511Q	probably damaging	Het
Kcnn2	A	T	18: 45,559,438	H27L	possibly damaging	Het
Kng2	A	G	16: 22,988,232	Y406H	probably damaging	Het
Lama1	A	G	17: 67,780,597	E1491G		Het
Lmf1	T	C	17: 25,654,608		probably null	Het
Med24	T	C	11: 98,713,164	N417S	possibly damaging	Het
Mfsd4b5	T	C	10: 39,974,800	E60G	probably benign	Het
Myrfl	T	A	10: 116,839,353	N225I	possibly damaging	Het
Naaladl2	A	C	3: 24,413,348		probably null	Het
Ndrg1	C	T	15: 66,948,394	D64N	probably damaging	Het
Olfr1057	A	G	2: 86,375,181	I77T	probably damaging	Het
Olfr820	T	C	10: 130,017,534	Y58H	probably damaging	Het
Rasa3	A	C	8: 13,588,015	L343R	probably benign	Het
Ros1	T	G	10: 52,163,971	K308T	probably damaging	Het
Rp1l1	A	G	14: 64,029,803	Y946C	probably benign	Het
Rpl13a	A	T	7: 45,126,173	L156Q	probably damaging	Het
Samd9l	A	G	6: 3,375,975	F429L	possibly damaging	Het
Slc25a25	A	G	2: 32,451,209	V39A	probably benign	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Sspo	G	A	6: 48,475,371	W2756*	probably null	Het
Sult6b2	T	A	6: 142,786,359	N274I	probably benign	Het
Tbc1d14	G	A	5: 36,495,038	R667W	probably damaging	Het
Tg	T	C	15: 66,715,163	S1597P	probably damaging	Het
Thy1	A	G	9: 44,047,435	D158G	probably damaging	Het
Tns4	T	C	11: 99,071,470	Y567C	probably damaging	Het
Vmn1r170	A	G	7: 23,607,048	R292G	probably damaging	Het
Vmn2r120	C	A	17: 57,536,657	R62S	probably benign	Het
Vmn2r88	T	G	14: 51,417,989	C552G		Het
Xpo4	T	A	14: 57,589,959	I927F	probably damaging	Het
Zc3h7a	A	T	16: 11,139,026	C906*	probably null	Het
Zdhhc22	T	C	12: 86,983,388	D262G	probably benign	Het
Zfc3h1	C	T	10: 115,410,701	Q898*	probably null	Het
Zfp280d	T	A	9: 72,301,965	S126T	probably damaging	Het
Zfp652	G	T	11: 95,749,718	E156D	probably benign	Het
Zfp74	T	C	7: 29,935,183	R367G	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	unclassified	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
R7737:Myo7b	UTSW	18	32014204	nonsense	probably null
R8030:Myo7b	UTSW	18	31998082	missense	probably damaging	0.96
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'- TTCCACCCTGCTGCAAGAAC -3'
(R):5'- CCTACGCAGCTTGATGAAAATG -3'

Sequencing Primer
(F):5'- AACCTGGGGCAAGACAGTCC -3'
(R):5'- CTACGCAGCTTGATGAAAATGAGTTG -3'

Posted On

2019-11-12