Mutagenetix > Incidental Mutation

Incidental Mutation 'R2365:Myo7b'

246309

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

040346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2365 (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 32147384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 53 (L53P)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: L53P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: L53P

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.9%

Validation Efficiency

94% (34/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	A	16: 29,070,008 (GRCm39)	K959N	probably benign	Het
C4b	G	A	17: 34,955,032 (GRCm39)		probably benign	Het
Cdhr2	T	G	13: 54,865,901 (GRCm39)	S268R	probably benign	Het
Erc1	A	G	6: 119,552,656 (GRCm39)	L1094P	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fat4	A	G	3: 39,034,568 (GRCm39)	H2740R	probably benign	Het
Galnt13	A	G	2: 54,744,709 (GRCm39)	Y136C	possibly damaging	Het
Gipc2	A	G	3: 151,833,831 (GRCm39)	I150T	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm21957	T	C	7: 124,818,629 (GRCm39)		noncoding transcript	Het
Gm5591	T	A	7: 38,218,825 (GRCm39)	R683W	probably damaging	Het
Gm826	A	G	2: 160,169,130 (GRCm39)	S60P	unknown	Het
Hsd17b7	T	C	1: 169,792,009 (GRCm39)	D133G	probably damaging	Het
Kera	A	G	10: 97,444,805 (GRCm39)	T55A	probably benign	Het
Mff	T	C	1: 82,713,192 (GRCm39)	V129A	possibly damaging	Het
Neo1	A	G	9: 58,863,286 (GRCm39)	V427A	probably benign	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or52e19	A	T	7: 102,959,380 (GRCm39)	I151L	probably benign	Het
Pfkfb3	C	T	2: 11,498,713 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,167,954 (GRCm39)	T742A	probably benign	Het
Pon1	A	G	6: 5,171,746 (GRCm39)	S302P	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Sall3	G	C	18: 81,015,007 (GRCm39)	P974A	probably benign	Het
Slc1a2	T	A	2: 102,578,798 (GRCm39)		probably null	Het
Slc22a6	A	G	19: 8,596,761 (GRCm39)	T180A	probably benign	Het
Slc40a1	T	C	1: 45,963,873 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,596,284 (GRCm39)	S585P	possibly damaging	Het
Tbpl1	A	G	10: 22,581,785 (GRCm39)	V164A	possibly damaging	Het
Tmem98	A	T	11: 80,706,511 (GRCm39)	I95F	probably damaging	Het
Ush2a	C	A	1: 188,111,188 (GRCm39)	P571T	possibly damaging	Het
Vars1	A	G	17: 35,234,428 (GRCm39)	N1125D	probably benign	Het
Vps13d	T	C	4: 144,813,894 (GRCm39)		probably benign	Het
Zbtb18	A	T	1: 177,275,723 (GRCm39)	E361V	probably benign	Het
Zc3hav1	A	G	6: 38,317,168 (GRCm39)	F144S	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
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
R5034:Myo7b	UTSW	18	32,104,440 (GRCm39)	missense	probably damaging	1.00
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'- CTCACTGAGTGACGATAAGGG -3'
(R):5'- TTAGACAGATGGCGACCAAAGC -3'

Sequencing Primer
(F):5'- GAGTAGTGCCAAGCCCCAGATC -3'
(R):5'- CAAAGCCATAGGTGGATCTAACTTTG -3'

Posted On

2014-10-30