Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Myo7b'

389474

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32092287-32169984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32104440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1436 (L1436P)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: L1436P

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: L1436P

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

0.6402

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Pphln1	T	C	15: 93,350,010 (GRCm39)	V120A	probably benign	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,631,887 (GRCm39)	D153G	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,425,265 (GRCm39)	T53A	probably damaging	Het
Sfpq	A	G	4: 126,917,462 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps18	A	T	2: 119,123,787 (GRCm39)	D238V	probably benign	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	probably damaging	Het

Other mutations in Myo7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Myo7b	APN	18	32,154,609 (GRCm39)	utr 5 prime	probably benign
IGL01799:Myo7b	APN	18	32,095,823 (GRCm39)	missense	probably damaging	1.00
IGL01881:Myo7b	APN	18	32,133,320 (GRCm39)	splice site	probably benign
IGL01883:Myo7b	APN	18	32,131,204 (GRCm39)	missense	probably damaging	1.00
IGL01934:Myo7b	APN	18	32,134,394 (GRCm39)	critical splice donor site	probably null
IGL01980:Myo7b	APN	18	32,094,953 (GRCm39)	missense	possibly damaging	0.86
IGL02506:Myo7b	APN	18	32,100,207 (GRCm39)	missense	probably damaging	1.00
IGL02704:Myo7b	APN	18	32,100,014 (GRCm39)	missense	probably benign	0.13
IGL02929:Myo7b	APN	18	32,127,978 (GRCm39)	missense	probably benign	0.19
IGL03149:Myo7b	APN	18	32,147,355 (GRCm39)	missense	probably damaging	1.00
IGL03335:Myo7b	APN	18	32,118,073 (GRCm39)	missense	possibly damaging	0.81
IGL03372:Myo7b	APN	18	32,131,654 (GRCm39)	missense	probably damaging	1.00
IGL03385:Myo7b	APN	18	32,122,630 (GRCm39)	missense	probably benign	0.00
PIT4131001:Myo7b	UTSW	18	32,094,259 (GRCm39)	missense	probably benign	0.17
PIT4445001:Myo7b	UTSW	18	32,095,405 (GRCm39)	missense	probably damaging	0.96
PIT4445001:Myo7b	UTSW	18	32,092,519 (GRCm39)	missense	possibly damaging	0.80
R0034:Myo7b	UTSW	18	32,093,913 (GRCm39)	missense	probably damaging	1.00
R0138:Myo7b	UTSW	18	32,143,204 (GRCm39)	missense	probably damaging	1.00
R0149:Myo7b	UTSW	18	32,147,262 (GRCm39)	missense	probably damaging	1.00
R0226:Myo7b	UTSW	18	32,105,949 (GRCm39)	missense	probably benign	0.00
R0312:Myo7b	UTSW	18	32,147,390 (GRCm39)	missense	possibly damaging	0.68
R0361:Myo7b	UTSW	18	32,147,262 (GRCm39)	missense	probably damaging	1.00
R0506:Myo7b	UTSW	18	32,097,439 (GRCm39)	critical splice donor site	probably null
R0524:Myo7b	UTSW	18	32,146,477 (GRCm39)	missense	possibly damaging	0.91
R0645:Myo7b	UTSW	18	32,127,962 (GRCm39)	missense	probably benign	0.10
R0724:Myo7b	UTSW	18	32,138,602 (GRCm39)	splice site	probably benign
R0731:Myo7b	UTSW	18	32,094,878 (GRCm39)	splice site	probably null
R0762:Myo7b	UTSW	18	32,116,997 (GRCm39)	missense	probably benign	0.01
R0843:Myo7b	UTSW	18	32,107,137 (GRCm39)	missense	possibly damaging	0.83
R0894:Myo7b	UTSW	18	32,133,123 (GRCm39)	missense	probably damaging	1.00
R0966:Myo7b	UTSW	18	32,131,816 (GRCm39)	missense	probably damaging	1.00
R1205:Myo7b	UTSW	18	32,127,395 (GRCm39)	missense	probably damaging	1.00
R1387:Myo7b	UTSW	18	32,116,805 (GRCm39)	splice site	probably benign
R1523:Myo7b	UTSW	18	32,099,929 (GRCm39)	missense	probably damaging	1.00
R1544:Myo7b	UTSW	18	32,127,962 (GRCm39)	missense	probably benign	0.10
R1623:Myo7b	UTSW	18	32,133,104 (GRCm39)	missense	probably damaging	1.00
R1780:Myo7b	UTSW	18	32,094,238 (GRCm39)	missense	probably damaging	1.00
R1785:Myo7b	UTSW	18	32,127,950 (GRCm39)	missense	probably benign
R1786:Myo7b	UTSW	18	32,127,950 (GRCm39)	missense	probably benign
R1796:Myo7b	UTSW	18	32,119,728 (GRCm39)	missense	possibly damaging	0.93
R1907:Myo7b	UTSW	18	32,110,052 (GRCm39)	missense	possibly damaging	0.89
R2027:Myo7b	UTSW	18	32,118,013 (GRCm39)	missense	probably benign
R2102:Myo7b	UTSW	18	32,133,031 (GRCm39)	missense	probably damaging	1.00
R2174:Myo7b	UTSW	18	32,116,610 (GRCm39)	missense	probably damaging	1.00
R2272:Myo7b	UTSW	18	32,110,096 (GRCm39)	missense	probably benign	0.41
R2323:Myo7b	UTSW	18	32,104,398 (GRCm39)	missense	probably damaging	1.00
R2365:Myo7b	UTSW	18	32,147,384 (GRCm39)	missense	probably damaging	0.98
R3078:Myo7b	UTSW	18	32,100,237 (GRCm39)	missense	probably benign	0.04
R3522:Myo7b	UTSW	18	32,143,132 (GRCm39)	missense	probably damaging	1.00
R3788:Myo7b	UTSW	18	32,107,165 (GRCm39)	missense	possibly damaging	0.95
R3880:Myo7b	UTSW	18	32,102,567 (GRCm39)	missense	probably damaging	0.96
R4334:Myo7b	UTSW	18	32,110,040 (GRCm39)	missense	probably damaging	1.00
R4343:Myo7b	UTSW	18	32,116,680 (GRCm39)	missense	probably damaging	1.00
R4497:Myo7b	UTSW	18	32,147,282 (GRCm39)	missense	probably benign	0.06
R4498:Myo7b	UTSW	18	32,147,282 (GRCm39)	missense	probably benign	0.06
R4551:Myo7b	UTSW	18	32,118,161 (GRCm39)	missense	probably benign	0.01
R4593:Myo7b	UTSW	18	32,146,428 (GRCm39)	missense	possibly damaging	0.77
R4616:Myo7b	UTSW	18	32,136,540 (GRCm39)	splice site	probably null
R4646:Myo7b	UTSW	18	32,127,422 (GRCm39)	missense	probably benign	0.25
R4648:Myo7b	UTSW	18	32,100,178 (GRCm39)	splice site	probably null
R4737:Myo7b	UTSW	18	32,131,655 (GRCm39)	missense	probably damaging	1.00
R4765:Myo7b	UTSW	18	32,094,953 (GRCm39)	missense	probably benign	0.00
R4790:Myo7b	UTSW	18	32,133,158 (GRCm39)	splice site	probably null
R4909:Myo7b	UTSW	18	32,097,489 (GRCm39)	missense	probably benign	0.01
R5027:Myo7b	UTSW	18	32,108,265 (GRCm39)	missense	probably benign	0.22
R5112:Myo7b	UTSW	18	32,116,640 (GRCm39)	missense	probably damaging	1.00
R5266:Myo7b	UTSW	18	32,131,787 (GRCm39)	missense	probably damaging	1.00
R5267:Myo7b	UTSW	18	32,131,787 (GRCm39)	missense	probably damaging	1.00
R5348:Myo7b	UTSW	18	32,116,972 (GRCm39)	missense	probably damaging	0.96
R5457:Myo7b	UTSW	18	32,104,503 (GRCm39)	splice site	probably null
R5540:Myo7b	UTSW	18	32,140,143 (GRCm39)	missense	probably damaging	1.00
R5628:Myo7b	UTSW	18	32,107,240 (GRCm39)	missense	probably benign
R5815:Myo7b	UTSW	18	32,099,341 (GRCm39)	missense	probably damaging	1.00
R6062:Myo7b	UTSW	18	32,101,043 (GRCm39)	missense	possibly damaging	0.94
R6137:Myo7b	UTSW	18	32,133,027 (GRCm39)	missense	probably damaging	1.00
R6158:Myo7b	UTSW	18	32,121,602 (GRCm39)	missense	probably benign	0.00
R6218:Myo7b	UTSW	18	32,092,507 (GRCm39)	missense	probably benign	0.10
R6256:Myo7b	UTSW	18	32,116,748 (GRCm39)	missense	probably damaging	1.00
R6257:Myo7b	UTSW	18	32,146,468 (GRCm39)	missense	probably damaging	1.00
R6265:Myo7b	UTSW	18	32,131,203 (GRCm39)	missense	probably damaging	1.00
R6302:Myo7b	UTSW	18	32,127,439 (GRCm39)	missense	probably damaging	0.98
R6438:Myo7b	UTSW	18	32,099,382 (GRCm39)	missense	probably damaging	1.00
R6654:Myo7b	UTSW	18	32,123,322 (GRCm39)	missense	possibly damaging	0.46
R7030:Myo7b	UTSW	18	32,104,626 (GRCm39)	missense	probably damaging	1.00
R7090:Myo7b	UTSW	18	32,131,765 (GRCm39)	missense	probably damaging	1.00
R7210:Myo7b	UTSW	18	32,140,155 (GRCm39)	missense	probably damaging	1.00
R7218:Myo7b	UTSW	18	32,114,054 (GRCm39)	missense	probably benign	0.05
R7378:Myo7b	UTSW	18	32,099,292 (GRCm39)	missense	probably damaging	1.00
R7458:Myo7b	UTSW	18	32,121,604 (GRCm39)	missense	possibly damaging	0.89
R7517:Myo7b	UTSW	18	32,146,320 (GRCm39)	missense	probably damaging	0.99
R7559:Myo7b	UTSW	18	32,116,413 (GRCm39)	missense	probably benign	0.01
R7667:Myo7b	UTSW	18	32,094,958 (GRCm39)	missense	probably benign
R7737:Myo7b	UTSW	18	32,147,257 (GRCm39)	nonsense	probably null
R7942:Myo7b	UTSW	18	32,146,422 (GRCm39)	missense	probably damaging	0.98
R8030:Myo7b	UTSW	18	32,131,135 (GRCm39)	missense	probably damaging	0.96
R8114:Myo7b	UTSW	18	32,098,677 (GRCm39)	missense	probably damaging	1.00
R8338:Myo7b	UTSW	18	32,104,408 (GRCm39)	missense	probably damaging	0.96
R8341:Myo7b	UTSW	18	32,116,979 (GRCm39)	missense	probably benign	0.39
R8406:Myo7b	UTSW	18	32,092,866 (GRCm39)	missense	probably damaging	1.00
R8464:Myo7b	UTSW	18	32,095,757 (GRCm39)	missense	probably benign	0.00
R8517:Myo7b	UTSW	18	32,100,244 (GRCm39)	missense	possibly damaging	0.87
R8537:Myo7b	UTSW	18	32,110,142 (GRCm39)	missense	probably benign	0.08
R8546:Myo7b	UTSW	18	32,123,201 (GRCm39)	missense	probably benign	0.19
R8721:Myo7b	UTSW	18	32,140,064 (GRCm39)	missense	probably damaging	1.00
R8770:Myo7b	UTSW	18	32,114,124 (GRCm39)	missense	probably benign	0.03
R8841:Myo7b	UTSW	18	32,097,490 (GRCm39)	missense	probably benign	0.06
R8853:Myo7b	UTSW	18	32,119,744 (GRCm39)	missense	possibly damaging	0.67
R8960:Myo7b	UTSW	18	32,127,299 (GRCm39)	splice site	probably benign
R8984:Myo7b	UTSW	18	32,099,402 (GRCm39)	missense	probably null	0.68
R9356:Myo7b	UTSW	18	32,110,096 (GRCm39)	missense	probably damaging	1.00
R9357:Myo7b	UTSW	18	32,093,129 (GRCm39)	missense	probably damaging	1.00
R9364:Myo7b	UTSW	18	32,133,413 (GRCm39)	missense	probably benign	0.12
R9405:Myo7b	UTSW	18	32,109,356 (GRCm39)	missense	probably benign	0.00
R9533:Myo7b	UTSW	18	32,108,297 (GRCm39)	missense	probably benign	0.27
R9776:Myo7b	UTSW	18	32,133,068 (GRCm39)	missense	probably benign	0.45
X0027:Myo7b	UTSW	18	32,098,689 (GRCm39)	missense	probably damaging	1.00
Z1176:Myo7b	UTSW	18	32,114,051 (GRCm39)	missense	possibly damaging	0.82
Z1177:Myo7b	UTSW	18	32,118,109 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCTGCTACTGCTGACTCG -3'
(R):5'- GTATACCCAGTCGAAAGCCACG -3'

Sequencing Primer
(F):5'- TGCTACTGCTGACTCGTGAGC -3'
(R):5'- CTCCCGGCTATTTGAAGTCAC -3'

Posted On

2016-06-06