Mutagenetix > Incidental Mutation

Incidental Mutation 'R6237:Myo5b'

505025

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

044362-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R6237 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74742178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1551 (R1551H)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000121875]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: R1525H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: R1525H

Domain	Start	End	E-Value	Type
MYSc	63	763	N/A	SMART
IQ	764	786	2.41e-4	SMART
IQ	787	809	7.7e-3	SMART
IQ	812	834	2.18e-2	SMART
IQ	835	857	1.72e0	SMART
IQ	860	882	7.52e-6	SMART
IQ	883	905	4.12e-3	SMART
low complexity region	1053	1065	N/A	INTRINSIC
coiled coil region	1140	1261	N/A	INTRINSIC
coiled coil region	1311	1415	N/A	INTRINSIC
DIL	1650	1755	7.48e-51	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121875
AA Change: R1551H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: R1551H

Domain	Start	End	E-Value	Type
MYSc	63	763	N/A	SMART
IQ	764	786	2.41e-4	SMART
IQ	787	809	7.7e-3	SMART
IQ	812	834	2.18e-2	SMART
IQ	835	857	1.72e0	SMART
IQ	860	882	7.52e-6	SMART
IQ	883	905	4.12e-3	SMART
low complexity region	1053	1065	N/A	INTRINSIC
coiled coil region	1140	1261	N/A	INTRINSIC
coiled coil region	1332	1441	N/A	INTRINSIC
DIL	1676	1781	7.48e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154986

Meta Mutation Damage Score

0.1879

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 119,615,763 (GRCm38)	R380H	probably damaging	Het
Akr1c12	C	A	13: 4,275,768 (GRCm38)	D109Y	possibly damaging	Het
Cacna1s	A	T	1: 136,105,844 (GRCm38)	M1020L	possibly damaging	Het
Cbx8	C	A	11: 119,040,387 (GRCm38)	R25L	possibly damaging	Het
Ccdc87	A	G	19: 4,841,379 (GRCm38)	Y633C	probably benign	Het
Col4a4	C	T	1: 82,507,031 (GRCm38)	S505N	unknown	Het
Cr2	T	A	1: 195,157,502 (GRCm38)	H539L	probably damaging	Het
Cyp2b9	T	A	7: 26,173,574 (GRCm38)	D47E	probably benign	Het
Dnah3	A	C	7: 120,009,384 (GRCm38)	M1784R	probably damaging	Het
Dnah8	T	A	17: 30,747,854 (GRCm38)	L2520*	probably null	Het
E2f2	A	G	4: 136,178,485 (GRCm38)	E103G	possibly damaging	Het
Eef1akmt3	T	A	10: 127,033,008 (GRCm38)	H199L	possibly damaging	Het
Faxc	A	T	4: 21,993,376 (GRCm38)	N340I	possibly damaging	Het
Fer1l6	A	G	15: 58,638,006 (GRCm38)	D1439G	probably damaging	Het
Fer1l6	A	T	15: 58,625,177 (GRCm38)	R1199*	probably null	Het
Galnt5	G	T	2: 58,035,249 (GRCm38)	W847C	probably damaging	Het
Gbp2	G	A	3: 142,632,032 (GRCm38)	S303N	probably benign	Het
Glipr1l1	A	T	10: 112,060,427 (GRCm38)	K40*	probably null	Het
Gm4353	A	C	7: 116,083,899 (GRCm38)	L149R	possibly damaging	Het
Grk5	A	G	19: 61,089,942 (GRCm38)	D479G	probably damaging	Het
Gzmc	T	A	14: 56,234,029 (GRCm38)		probably null	Het
Hace1	T	C	10: 45,648,890 (GRCm38)	Y251H	probably benign	Het
Hhla1	G	T	15: 65,941,797 (GRCm38)	P229T	probably damaging	Het
Hspa1l	C	T	17: 34,977,452 (GRCm38)	Q156*	probably null	Het
Igkv4-78	A	T	6: 69,059,699 (GRCm38)	Y117N	probably benign	Het
Ikzf3	C	A	11: 98,467,053 (GRCm38)	R486L	probably damaging	Het
Itpr1	C	T	6: 108,378,203 (GRCm38)	T485M	possibly damaging	Het
Kcnab3	T	C	11: 69,328,575 (GRCm38)	Y131H	probably benign	Het
Kcnu1	C	T	8: 25,932,334 (GRCm38)	P209L	probably benign	Het
Klk8	T	A	7: 43,798,670 (GRCm38)	C39*	probably null	Het
Mbtps1	A	G	8: 119,528,961 (GRCm38)	L519P	probably damaging	Het
Mgat4a	A	G	1: 37,456,592 (GRCm38)	I287T	probably damaging	Het
Mindy2	T	C	9: 70,605,198 (GRCm38)	E590G	possibly damaging	Het
Mllt11	G	T	3: 95,220,291 (GRCm38)	T56K	probably benign	Het
Nmrk2	T	C	10: 81,200,962 (GRCm38)	T16A	possibly damaging	Het
Olfr324	T	A	11: 58,598,005 (GRCm38)	F203Y	probably damaging	Het
Olfr862	G	T	9: 19,884,069 (GRCm38)	P79T	probably damaging	Het
Osbpl9	T	C	4: 109,156,702 (GRCm38)	D65G	probably damaging	Het
Phf2	T	A	13: 48,803,655 (GRCm38)	K1079*	probably null	Het
Plcb1	A	G	2: 135,370,566 (GRCm38)	S1026G	possibly damaging	Het
Pnrc2	A	T	4: 135,872,086 (GRCm38)	H117Q	probably benign	Het
Ppfia2	A	T	10: 106,913,594 (GRCm38)	I1114F	probably damaging	Het
Rpl12	G	A	2: 32,962,988 (GRCm38)	E72K	probably benign	Het
Sbf1	C	T	15: 89,293,476 (GRCm38)	R1642H	probably benign	Het
Sephs2	G	A	7: 127,273,946 (GRCm38)		probably benign	Het
Slc35c2	A	T	2: 165,280,697 (GRCm38)	L194H	probably damaging	Het
Slfn4	T	A	11: 83,189,112 (GRCm38)	Y150N	probably damaging	Het
Srbd1	T	C	17: 85,985,295 (GRCm38)	R949G	probably damaging	Het
Urah	T	A	7: 140,835,705 (GRCm38)	S28T	probably damaging	Het
Wdr62	A	G	7: 30,242,435 (GRCm38)	S649P	probably damaging	Het
Wnk1	C	A	6: 119,952,767 (GRCm38)	G1263V	probably damaging	Het
Zbtb4	C	A	11: 69,778,243 (GRCm38)	D114E	possibly damaging	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74,654,076 (GRCm38)	splice site	probably benign
IGL01083:Myo5b	APN	18	74,733,903 (GRCm38)	splice site	probably benign
IGL01448:Myo5b	APN	18	74,644,090 (GRCm38)	missense	probably damaging	0.97
IGL01516:Myo5b	APN	18	74,627,195 (GRCm38)	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74,740,549 (GRCm38)	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74,580,396 (GRCm38)	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74,714,936 (GRCm38)	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74,569,767 (GRCm38)	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74,698,277 (GRCm38)	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74,716,999 (GRCm38)	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74,638,040 (GRCm38)	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74,714,939 (GRCm38)	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74,695,367 (GRCm38)	splice site	probably benign
IGL02806:Myo5b	APN	18	74,617,080 (GRCm38)	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74,760,968 (GRCm38)	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74,580,544 (GRCm38)	splice site	probably benign
IGL03061:Myo5b	APN	18	74,634,559 (GRCm38)	missense	probably benign	0.02
unrat	UTSW	18	74,653,361 (GRCm38)	missense	possibly damaging	0.93
BB007:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
BB017:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
R0085:Myo5b	UTSW	18	74,701,680 (GRCm38)	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74,742,171 (GRCm38)	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74,742,180 (GRCm38)	missense	probably benign
R0242:Myo5b	UTSW	18	74,661,716 (GRCm38)	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74,661,716 (GRCm38)	missense	possibly damaging	0.95
R0471:Myo5b	UTSW	18	74,728,954 (GRCm38)	splice site	probably benign
R0494:Myo5b	UTSW	18	74,653,967 (GRCm38)	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74,625,641 (GRCm38)	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74,625,587 (GRCm38)	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74,644,072 (GRCm38)	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74,644,201 (GRCm38)	splice site	probably benign
R1468:Myo5b	UTSW	18	74,740,503 (GRCm38)	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74,740,503 (GRCm38)	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74,569,782 (GRCm38)	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74,733,990 (GRCm38)	missense	probably benign
R1600:Myo5b	UTSW	18	74,713,540 (GRCm38)	unclassified	probably benign
R1639:Myo5b	UTSW	18	74,707,916 (GRCm38)	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74,742,147 (GRCm38)	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74,577,609 (GRCm38)	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74,577,455 (GRCm38)	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74,759,192 (GRCm38)	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74,625,605 (GRCm38)	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74,759,087 (GRCm38)	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74,762,618 (GRCm38)	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74,661,655 (GRCm38)	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74,716,037 (GRCm38)	missense	probably damaging	0.98
R3938:Myo5b	UTSW	18	74,716,037 (GRCm38)	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74,695,403 (GRCm38)	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74,740,527 (GRCm38)	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74,740,527 (GRCm38)	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74,634,481 (GRCm38)	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74,759,240 (GRCm38)	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74,740,488 (GRCm38)	missense	probably benign
R4285:Myo5b	UTSW	18	74,714,849 (GRCm38)	missense	probably benign
R4308:Myo5b	UTSW	18	74,731,740 (GRCm38)	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74,698,274 (GRCm38)	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74,580,408 (GRCm38)	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74,625,674 (GRCm38)	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74,722,462 (GRCm38)	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74,744,681 (GRCm38)	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74,695,380 (GRCm38)	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74,744,630 (GRCm38)	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74,695,384 (GRCm38)	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74,627,193 (GRCm38)	missense	probably damaging	0.98
R5004:Myo5b	UTSW	18	74,744,773 (GRCm38)	critical splice donor site	probably null
R5024:Myo5b	UTSW	18	74,716,034 (GRCm38)	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74,638,153 (GRCm38)	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74,701,674 (GRCm38)	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74,714,932 (GRCm38)	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74,700,606 (GRCm38)	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74,662,670 (GRCm38)	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74,742,175 (GRCm38)	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74,654,057 (GRCm38)	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74,701,521 (GRCm38)	missense	probably benign
R5875:Myo5b	UTSW	18	74,707,902 (GRCm38)	splice site	probably null
R6088:Myo5b	UTSW	18	74,720,898 (GRCm38)	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74,700,679 (GRCm38)	missense	probably benign	0.19
R6265:Myo5b	UTSW	18	74,577,440 (GRCm38)	splice site	probably null
R6267:Myo5b	UTSW	18	74,616,991 (GRCm38)	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74,770,385 (GRCm38)	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74,617,015 (GRCm38)	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74,701,503 (GRCm38)	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74,701,503 (GRCm38)	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74,617,035 (GRCm38)	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74,770,325 (GRCm38)	missense	probably benign
R6876:Myo5b	UTSW	18	74,707,955 (GRCm38)	missense	probably benign
R6880:Myo5b	UTSW	18	74,722,430 (GRCm38)	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74,676,685 (GRCm38)	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74,653,361 (GRCm38)	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74,701,528 (GRCm38)	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74,695,427 (GRCm38)	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74,708,024 (GRCm38)	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74,731,731 (GRCm38)	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74,634,511 (GRCm38)	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74,627,254 (GRCm38)	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74,580,396 (GRCm38)	missense	probably damaging	1.00
R7670:Myo5b	UTSW	18	74,701,446 (GRCm38)	missense	probably benign	0.05
R7754:Myo5b	UTSW	18	74,634,559 (GRCm38)	missense	probably benign	0.02
R7930:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
R8013:Myo5b	UTSW	18	74,760,899 (GRCm38)	nonsense	probably null
R8271:Myo5b	UTSW	18	74,627,190 (GRCm38)	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74,733,962 (GRCm38)	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74,643,978 (GRCm38)	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74,742,202 (GRCm38)	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74,770,340 (GRCm38)	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74,759,098 (GRCm38)	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74,707,972 (GRCm38)	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74,720,863 (GRCm38)	missense	probably benign
R9283:Myo5b	UTSW	18	74,644,078 (GRCm38)	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74,627,175 (GRCm38)	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74,744,760 (GRCm38)	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74,728,897 (GRCm38)	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74,714,946 (GRCm38)	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74,759,160 (GRCm38)	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74,723,770 (GRCm38)	missense	probably benign
RF009:Myo5b	UTSW	18	74,643,999 (GRCm38)	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74,744,749 (GRCm38)	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74,617,017 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AAAGATTAGCTCTGCTGGGAC -3'
(R):5'- CCCAGTCTTGCAAAGAAAGGC -3'

Sequencing Primer
(F):5'- TCTGCTGGGACTGGAAAGC -3'
(R):5'- AGGCATTCCCACAATCTGAGGTTC -3'

Posted On

2018-02-28