Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Myo7b'

617925

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31998082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 544 (I544T)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: I544T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: I544T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,761,674	S98P	probably benign	Het
2410089E03Rik	G	T	15: 8,230,303	G2383V	probably damaging	Het
Abca9	C	T	11: 110,120,708	V1170I	probably benign	Het
Acacb	A	G	5: 114,233,167	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,749,161	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,272,245	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,439,600	I311F	probably damaging	Het
Armc2	T	A	10: 41,966,742	N355I	possibly damaging	Het
Armh1	T	A	4: 117,229,987	K160N	probably benign	Het
Asic1	A	T	15: 99,694,841	T236S	possibly damaging	Het
Avl9	T	A	6: 56,741,422	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,515,896	Q197L	probably damaging	Het
Ccdc136	T	C	6: 29,417,142	V654A	probably benign	Het
Ccdc155	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 45,188,184		probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cracr2a	A	G	6: 127,611,423	K182E	probably damaging	Het
Dpys	T	C	15: 39,828,090	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,089,571	S615T	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,766,402	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,435,046	A68V	probably damaging	Het
Fam81a	A	G	9: 70,102,909	S149P	probably benign	Het
Ffar4	A	G	19: 38,107,391	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,798,538	V377D	probably damaging	Het
Fscn1	C	T	5: 142,961,001	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,392,870	S809N	probably benign	Het
H60b	T	A	10: 22,287,121	N198K	probably damaging	Het
Helz2	A	T	2: 181,237,896	F643Y	possibly damaging	Het
Kif28	A	G	1: 179,699,064	V846A	probably benign	Het
Kirrel	C	A	3: 87,097,775	G89W	probably damaging	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,827,803	F473S	probably damaging	Het
Mcrip2	G	A	17: 25,864,332	Q111*	probably null	Het
Msh5	A	G	17: 35,029,748	Y741H	possibly damaging	Het
Nav1	T	C	1: 135,537,239	E276G	probably damaging	Het
Nr2f1	T	C	13: 78,195,446	N233S	probably benign	Het
Nrip2	A	T	6: 128,406,521	D124V	possibly damaging	Het
Olfr1008	T	A	2: 85,689,719	C97S	probably damaging	Het
Olfr1042	C	T	2: 86,160,242	V43I	probably benign	Het
Panx2	G	T	15: 89,068,079	A250S	probably damaging	Het
Pdc	T	C	1: 150,333,213	L149P	probably damaging	Het
Pex5l	T	A	3: 32,954,419	I445F	possibly damaging	Het
Pigc	T	C	1: 161,970,547	F33L	probably damaging	Het
Pkp2	A	T	16: 16,246,910	M433L	probably benign	Het
Rbfox2	A	G	15: 77,085,576		probably null	Het
Rd3l	A	G	12: 111,980,150	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,277,828	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,579,909		probably benign	Het
Sel1l2	T	C	2: 140,241,018	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,610,007	I477T	probably damaging	Het
Sltm	C	T	9: 70,585,979	R753*	probably null	Het
Specc1l	T	A	10: 75,248,555	M687K	probably damaging	Het
Spock3	T	G	8: 63,352,198	C338G	probably damaging	Het
Ssh2	C	A	11: 77,454,506	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,172,670	M251V	not run	Het
Tdrd5	C	A	1: 156,270,595	E711*	probably null	Het
Thop1	T	C	10: 81,075,616	M112T	possibly damaging	Het
Tln1	C	T	4: 43,535,737		probably null	Het
Ttc28	A	C	5: 111,286,056	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178	E151G	probably damaging	Het
Ubr1	T	C	2: 120,934,374	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,401,363	H232R	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
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
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'- CCTCAGAGAGCATACATGGC -3'
(R):5'- GTCATTCTGAGCCCAGCTTC -3'

Sequencing Primer
(F):5'- TTAGAATCACCTGGTAGACTGGCC -3'
(R):5'- TGAGCCCAGCTTCCTTTG -3'

Posted On

2020-01-23