Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Myo7b'

435929

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

043098-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32092287-32169984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32140143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 216 (Y216H)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: Y216H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: Y216H

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,012,371 (GRCm39)	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388 (GRCm39)	H305L	probably benign	Het
Adam26b	C	A	8: 43,974,654 (GRCm39)	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,543,198 (GRCm39)		probably null	Het
Akr1b10	A	G	6: 34,371,047 (GRCm39)	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,187,178 (GRCm39)	V186A	probably benign	Het
Alpk3	G	A	7: 80,745,184 (GRCm39)	V1311M	probably damaging	Het
Aox1	A	G	1: 58,143,569 (GRCm39)	N1229S	probably benign	Het
Apobec3	T	A	15: 79,782,120 (GRCm39)	N43K	probably benign	Het
Arid1a	A	C	4: 133,407,765 (GRCm39)	D2247E	unknown	Het
Asph	A	G	4: 9,635,906 (GRCm39)	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,878,231 (GRCm39)	T94S	probably damaging	Het
Celf2	T	C	2: 6,558,743 (GRCm39)	T382A	probably benign	Het
Cfap54	C	T	10: 92,808,470 (GRCm39)	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,686,476 (GRCm39)	V48E	probably benign	Het
Col6a5	T	A	9: 105,739,975 (GRCm39)	E2548V	probably benign	Het
Crebrf	A	G	17: 26,961,071 (GRCm39)	D56G	possibly damaging	Het
Dctn5	A	G	7: 121,734,275 (GRCm39)	T40A	probably benign	Het
Dmxl2	A	T	9: 54,301,141 (GRCm39)	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,627,384 (GRCm39)	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,486,202 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,039,610 (GRCm39)	F454Y	probably damaging	Het
Fbxo38	A	G	18: 62,647,864 (GRCm39)		probably null	Het
Flg	T	C	3: 93,184,923 (GRCm39)	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,555,651 (GRCm39)	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,334,356 (GRCm39)	G45R	probably damaging	Het
Garin3	A	G	11: 46,295,715 (GRCm39)	N29S	probably damaging	Het
Gfi1	T	A	5: 107,867,991 (GRCm39)	T360S	probably damaging	Het
Grik4	T	C	9: 42,432,243 (GRCm39)	H918R	probably damaging	Het
Hpx	A	G	7: 105,241,119 (GRCm39)	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,558,979 (GRCm39)	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,915,860 (GRCm39)	M546L	probably benign	Het
Map3k9	G	T	12: 81,819,587 (GRCm39)	N222K	probably damaging	Het
Me1	A	G	9: 86,561,926 (GRCm39)	L53P	possibly damaging	Het
Mis18bp1	T	C	12: 65,195,520 (GRCm39)	E748G	possibly damaging	Het
Morc3	T	A	16: 93,644,268 (GRCm39)	N186K	probably benign	Het
Mtor	A	G	4: 148,539,165 (GRCm39)	T221A	probably benign	Het
Muc6	A	G	7: 141,235,850 (GRCm39)		probably null	Het
Myh8	C	A	11: 67,177,266 (GRCm39)	T444N	probably benign	Het
Myom1	G	A	17: 71,416,782 (GRCm39)	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,460,801 (GRCm39)	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,164,546 (GRCm39)	S1168P	probably damaging	Het
Or4c58	A	G	2: 89,675,011 (GRCm39)	F102S	probably damaging	Het
Or4d2	T	A	11: 87,784,511 (GRCm39)	K80*	probably null	Het
Or51f5	C	T	7: 102,424,136 (GRCm39)	A135V	probably benign	Het
Or5an9	T	A	19: 12,187,824 (GRCm39)	I298N	probably damaging	Het
Or6c8b	G	T	10: 128,882,364 (GRCm39)	D189E	probably damaging	Het
Pcdha4	C	A	18: 37,087,890 (GRCm39)	A691E	probably benign	Het
Pde6a	T	G	18: 61,364,438 (GRCm39)	F165V	probably damaging	Het
Ptpn14	A	T	1: 189,578,561 (GRCm39)	M340L	probably benign	Het
Rnasel	G	T	1: 153,630,890 (GRCm39)	E469*	probably null	Het
Rsph3a	T	G	17: 8,164,790 (GRCm39)	L50R	probably benign	Het
Rusc2	A	G	4: 43,423,975 (GRCm39)	Y1043C	probably damaging	Het
Serpinb6b	A	T	13: 33,161,541 (GRCm39)	K86*	probably null	Het
Serpine1	T	C	5: 137,092,063 (GRCm39)	T392A	probably benign	Het
Shcbp1	A	T	8: 4,794,529 (GRCm39)	D421E	probably damaging	Het
Slc24a1	A	G	9: 64,855,863 (GRCm39)	V348A	unknown	Het
Slc26a7	A	G	4: 14,506,621 (GRCm39)	F605L	probably benign	Het
Slc66a1	A	T	4: 139,027,655 (GRCm39)	L229Q	probably damaging	Het
Spag17	A	C	3: 99,963,588 (GRCm39)	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,683,989 (GRCm39)	V2390A	probably benign	Het
Stk11	A	G	10: 79,961,883 (GRCm39)	I35V	probably benign	Het
Stk24	T	C	14: 121,531,693 (GRCm39)	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,801,994 (GRCm39)	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,060,681 (GRCm39)	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,098,380 (GRCm39)	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,429,037 (GRCm39)	R268Q	probably benign	Het
Trhde	T	A	10: 114,636,497 (GRCm39)	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,633,915 (GRCm39)	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,726,831 (GRCm39)		probably benign	Het
Vps16	T	A	2: 130,284,305 (GRCm39)	D685E	probably benign	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Wdr59	A	G	8: 112,211,816 (GRCm39)	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,339,896 (GRCm39)	E1364G	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
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
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'- GCTGAGAAAATTCAATTGCTCCC -3'
(R):5'- CACCTCACTGTTGATTCGTGAAC -3'

Sequencing Primer
(F):5'- AGCAATACTGAGAAGTACATGGAG -3'
(R):5'- GTTGATTCGTGAACCCCAGAC -3'

Posted On

2016-10-24