Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Myo7b'

230632

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31999978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 439 (F439L)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: F439L

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: F439L

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,173	L41P	probably damaging	Het
1700061G19Rik	T	A	17: 56,884,949	Y542*	probably null	Het
3632451O06Rik	A	G	14: 49,774,002	Y83H	probably damaging	Het
Abca8a	G	T	11: 110,068,052	P749T	probably damaging	Het
Acad8	A	T	9: 26,985,565	Y199*	probably null	Het
Acot12	A	T	13: 91,759,977	I93L	probably benign	Het
Actn1	C	A	12: 80,183,517	R321L	probably benign	Het
Ap3s1	A	G	18: 46,754,402	E34G	possibly damaging	Het
Atp5a1	T	C	18: 77,782,317	S533P	probably damaging	Het
Bcorl1	T	C	X: 48,369,204	V538A	probably benign	Het
Cdhr4	A	G	9: 107,998,007	T689A	probably damaging	Het
Cdk19	A	T	10: 40,479,730		probably benign	Het
Cobll1	G	T	2: 65,098,210	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,371,585	S456P	probably benign	Het
Cst11	T	C	2: 148,771,240	Y55C	probably damaging	Het
Ctif	T	G	18: 75,521,381	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,616,773	E386A	probably benign	Het
Dcxr	A	G	11: 120,726,307	F104L	probably benign	Het
Dmbt1	G	T	7: 131,102,032	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,333,773	I567F	probably damaging	Het
Ednrb	T	A	14: 103,820,914	R318*	probably null	Het
Exd2	T	C	12: 80,480,603	I36T	possibly damaging	Het
Fam205c	T	A	4: 42,868,558	H355L	probably benign	Het
Fam83b	A	T	9: 76,492,705	I372N	probably damaging	Het
Fbxo18	A	G	2: 11,758,289	V518A	probably benign	Het
Fkbp5	T	C	17: 28,406,188	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,956,229	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,999,979		probably benign	Het
Galnt17	C	T	5: 131,085,993	R223Q	probably damaging	Het
Gm10696	A	T	3: 94,175,666	C279*	probably null	Het
Gm14496	G	A	2: 181,991,334	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,666,035	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,694,132	N292S	probably damaging	Het
Ints1	C	T	5: 139,755,999	V1826M	possibly damaging	Het
Itgb4	A	G	11: 116,005,735	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,830,147	D1552G	probably damaging	Het
Kel	G	A	6: 41,686,484	T702I	possibly damaging	Het
Klf3	T	C	5: 64,821,923	V36A	probably damaging	Het
Klhl23	A	T	2: 69,828,884	I418F	probably damaging	Het
Kndc1	A	T	7: 139,930,761	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,614,780		probably benign	Het
Krtap9-5	T	A	11: 99,949,444	C324S	unknown	Het
Lepr	T	C	4: 101,772,981	V631A	possibly damaging	Het
Lifr	T	C	15: 7,186,923	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,511,731	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,919,429		probably benign	Het
Mmp12	G	A	9: 7,349,802	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,388,886	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,375,633	T246A	possibly damaging	Het
Myom1	A	T	17: 71,101,029	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,576,688	F1004S	probably benign	Het
Palld	A	T	8: 61,533,433	M788K	possibly damaging	Het
Pappa	T	A	4: 65,316,228	Y1423*	probably null	Het
Pfkm	A	G	15: 98,129,290	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,081,469	D105E	probably damaging	Het
Plekha5	G	A	6: 140,572,877	A297T	probably damaging	Het
Plxnb1	T	A	9: 109,115,742	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,278,746	T524A	probably damaging	Het
Psg26	T	C	7: 18,475,142	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,282,389	D1225G	probably benign	Het
Rep15	A	G	6: 147,032,905		probably null	Het
Rgl2	G	A	17: 33,933,340		probably null	Het
Rpl7a	T	G	2: 26,911,461	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,431,358	I158F	probably benign	Het
Scaper	A	T	9: 55,912,050	V127E	probably benign	Het
Sele	T	A	1: 164,053,826	C501S	probably damaging	Het
Serpina11	C	T	12: 103,982,845	V358I	probably benign	Het
Slc16a4	A	G	3: 107,304,503		probably null	Het
Slco6c1	T	C	1: 97,127,931	I82V	probably benign	Het
Smarca5	T	C	8: 80,704,675	E971G	probably damaging	Het
Smr2	T	C	5: 88,108,736	L91P	probably damaging	Het
Srrm2	A	G	17: 23,817,748		probably benign	Het
Syne1	A	G	10: 5,056,514	W7980R	probably damaging	Het
Syne2	A	G	12: 76,028,079	T4598A	probably benign	Het
Tmem171	A	T	13: 98,692,343	F100I	probably damaging	Het
Tmem173	A	T	18: 35,735,237	M270K	probably damaging	Het
Tnfrsf10b	A	G	14: 69,776,097	T159A	probably benign	Het
Tph1	A	T	7: 46,660,410		probably null	Het
Trim46	A	T	3: 89,235,197	I638N	probably damaging	Het
Ubl7	G	A	9: 57,920,542	D171N	probably damaging	Het
Utp20	A	G	10: 88,772,917	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,293,500	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,692,507	V148E	probably damaging	Het
Zbed3	A	G	13: 95,336,107	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,600,759	L99Q	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
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'- CAAGTGTGTACAGAGGTAAACTTAC -3'
(R):5'- AGTCAGTGTTGCCAGTCTGC -3'

Sequencing Primer
(F):5'- AGACTGAGTCTCTTCACCAATTCAG -3'
(R):5'- TTCCTGGGTGAACCTCAAGAG -3'

Posted On

2014-09-18