Mutagenetix > Incidental Mutation

Incidental Mutation 'R9405:Myo7b'

711503

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9405 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31976303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1172 (A1172T)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: A1172T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: A1172T

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: 98.7%

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
Acaa1b	T	A	9: 119,149,438	Q277L	probably damaging	Het
Adamts18	A	G	8: 113,703,398	V1135A	probably damaging	Het
Apobr	A	G	7: 126,585,532	S72G	possibly damaging	Het
Arl13b	T	A	16: 62,811,897	Q214L	possibly damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Asah2	T	G	19: 32,008,645	T542P	possibly damaging	Het
Asns	C	T	6: 7,689,283	C73Y	probably damaging	Het
C130060K24Rik	T	A	6: 65,456,094	N299K	probably benign	Het
Calhm2	T	A	19: 47,135,669	T79S	probably benign	Het
Cd300c2	T	G	11: 115,000,761	T96P	probably damaging	Het
Copb1	G	A	7: 114,223,223	T757I	possibly damaging	Het
Csmd3	T	A	15: 47,675,791	T1517S		Het
Ddx60	T	A	8: 61,972,214	L679M	probably benign	Het
Dip2b	A	G	15: 100,195,876	K1123R	probably benign	Het
Dnah17	A	G	11: 118,118,911	S612P	probably benign	Het
Dnah5	T	A	15: 28,272,160	C1037S	probably benign	Het
Efcab5	G	A	11: 77,132,108	T593I	probably damaging	Het
Ei24	A	T	9: 36,782,841	I244N	possibly damaging	Het
Epb41l4a	C	A	18: 33,810,218		probably null	Het
Fam83b	A	G	9: 76,491,421	M800T	possibly damaging	Het
Fcf1	T	G	12: 84,974,239	C98G	probably benign	Het
Hist1h2bb	T	C	13: 23,747,158	Y122H	probably benign	Het
Hltf	G	T	3: 20,082,930	Q417H	possibly damaging	Het
Hmg20b	T	C	10: 81,349,424	S35G	probably benign	Het
Igkv4-57-1	T	G	6: 69,544,541	Y59S	probably damaging	Het
Irs2	C	T	8: 11,005,061	V1124I	possibly damaging	Het
Kprp	A	G	3: 92,824,253	C497R	unknown	Het
Krt15	A	T	11: 100,132,135	V418E	probably benign	Het
Lce1e	G	A	3: 92,708,005	P12S	unknown	Het
Lsmem1	T	C	12: 40,177,114	D124G	probably damaging	Het
Morc3	T	C	16: 93,845,148	F85S	probably damaging	Het
Mtnr1b	A	T	9: 15,863,151	V204E	possibly damaging	Het
Nbeal1	T	A	1: 60,310,265	I2362N	probably damaging	Het
Nde1	T	G	16: 14,188,391	L261R	probably damaging	Het
Neurl1b	A	G	17: 26,439,291	D401G	probably benign	Het
Nfkb2	T	C	19: 46,308,400	V303A	probably damaging	Het
Nlrc5	C	T	8: 94,473,024	P88S	probably damaging	Het
Olfr1280	T	A	2: 111,316,115	I212K	possibly damaging	Het
Olfr286	T	A	15: 98,227,031	I207F	possibly damaging	Het
Olfr772	T	A	10: 129,174,296	M242L	probably benign	Het
Pde1c	T	A	6: 56,072,214	K705*	probably null	Het
Pear1	A	T	3: 87,752,583	F699I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Prickle1	A	T	15: 93,502,980	L541*	probably null	Het
Prss39	G	A	1: 34,499,263	G70S	probably damaging	Het
Prune2	T	G	19: 17,216,344	N3065K	probably damaging	Het
Rdh5	A	C	10: 128,918,068	D127E	probably benign	Het
Ryr3	G	A	2: 112,834,267	H1580Y	probably damaging	Het
Sash1	G	A	10: 8,762,230		probably benign	Het
Scgb3a2	T	A	18: 43,767,064	L139Q	possibly damaging	Het
Six1	A	G	12: 73,046,321	S36P	probably damaging	Het
Slc30a5	T	C	13: 100,813,908	I281V	probably benign	Het
Snai2	T	A	16: 14,706,725	Y32N	probably benign	Het
Stat2	T	C	10: 128,278,765	S244P	probably damaging	Het
Syne1	A	G	10: 5,202,030	I5759T	probably damaging	Het
Tbc1d23	T	C	16: 57,192,622	N329S	possibly damaging	Het
Tex2	A	T	11: 106,544,388	S737R	unknown	Het
Trav13d-3	G	A	14: 53,033,258	R59H	probably benign	Het
Tspan9	C	T	6: 127,967,161	A59T	probably benign	Het
Usp53	G	A	3: 122,953,269	A349V	probably damaging	Het
Vmn1r188	T	C	13: 22,088,728	L284P	probably damaging	Het
Vmn2r85	T	C	10: 130,425,346	N374S	probably damaging	Het
Zfp622	A	T	15: 25,984,949	I134F	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	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
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
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'- GGTGACCTGGAAGGATCAAC -3'
(R):5'- AGAGTTAGAGTCTATCTGAGCGTG -3'

Sequencing Primer
(F):5'- GACATGAGTTTAGTACCTGGTACCC -3'
(R):5'- GTCTATCTGAGCGTGACTAGAACC -3'

Posted On

2022-05-16