Mutagenetix > Incidental Mutation

Incidental Mutation 'R2272:Myo5b'

242608

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

040272-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74733925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1382 (L1382F)

Ref Sequence

ENSEMBL: ENSMUSP00000073790 (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: L1382F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: L1382F

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: L1408F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: L1408F

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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, 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297 (GRCm38)	E160V	probably damaging	Het
Ago1	C	A	4: 126,453,650 (GRCm38)	M435I	probably benign	Het
Apol7b	G	A	15: 77,423,710 (GRCm38)	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744 (GRCm38)	I364F	probably damaging	Het
Arntl2	T	C	6: 146,822,114 (GRCm38)	F314S	probably damaging	Het
Atg2b	C	T	12: 105,638,008 (GRCm38)	V1545I	probably benign	Het
Atp4a	C	A	7: 30,715,500 (GRCm38)	S238*	probably null	Het
Birc6	T	C	17: 74,602,971 (GRCm38)	V1453A	probably benign	Het
Brinp3	A	G	1: 146,901,404 (GRCm38)	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,703,370 (GRCm38)	L336P	probably damaging	Het
Cdh22	A	T	2: 165,143,847 (GRCm38)		probably null	Het
Cdk5rap2	A	C	4: 70,266,678 (GRCm38)	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495 (GRCm38)	V45A	probably benign	Het
Cracr2a	T	A	6: 127,607,298 (GRCm38)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957 (GRCm38)	R624L	probably null	Het
Ddc	T	C	11: 11,835,764 (GRCm38)	N308D	probably damaging	Het
Dnah10	A	G	5: 124,731,466 (GRCm38)	N195S	probably benign	Het
Dnah9	T	C	11: 66,112,362 (GRCm38)	D872G	probably benign	Het
Fam71e2	T	A	7: 4,758,187 (GRCm38)	T509S	probably benign	Het
Fmo1	A	T	1: 162,833,855 (GRCm38)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047 (GRCm38)	I310N	possibly damaging	Het
Gm13088	G	A	4: 143,654,142 (GRCm38)	T437I	probably damaging	Het
Hydin	A	T	8: 110,309,132 (GRCm38)	I152L	probably benign	Het
Itpr1	T	A	6: 108,493,755 (GRCm38)	C2214S	probably damaging	Het
Kcnq3	T	A	15: 66,028,680 (GRCm38)	D242V	probably damaging	Het
Klhl1	T	C	14: 96,517,908 (GRCm38)	D137G	probably benign	Het
Lama5	T	C	2: 180,178,603 (GRCm38)	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,316,762 (GRCm38)	L254S	probably damaging	Het
Lipa	T	A	19: 34,510,890 (GRCm38)	R119*	probably null	Het
Matn4	A	T	2: 164,397,242 (GRCm38)	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865 (GRCm38)	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Muc6	T	A	7: 141,637,510 (GRCm38)	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,144,338 (GRCm38)	H3612R	probably null	Het
Myo7b	C	T	18: 31,977,043 (GRCm38)	S1122N	probably benign	Het
Myo9a	T	A	9: 59,815,301 (GRCm38)	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,956,951 (GRCm38)	Y138H	probably damaging	Het
Neil1	A	G	9: 57,146,785 (GRCm38)	S84P	probably damaging	Het
Nfix	A	G	8: 84,727,175 (GRCm38)	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,194,408 (GRCm38)	D474E	probably benign	Het
Olfr203	T	G	16: 59,303,444 (GRCm38)	M98R	possibly damaging	Het
Olfr870	T	A	9: 20,171,409 (GRCm38)	H54L	possibly damaging	Het
Pcnx	T	C	12: 81,995,314 (GRCm38)	V2240A	probably benign	Het
Per3	T	A	4: 151,018,885 (GRCm38)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524 (GRCm38)	L66I	probably damaging	Het
Prkdc	A	G	16: 15,654,817 (GRCm38)		probably null	Het
Prpf8	T	A	11: 75,495,363 (GRCm38)	V946E	probably damaging	Het
Prrc1	G	T	18: 57,381,646 (GRCm38)	D312Y	probably damaging	Het
Prss54	C	T	8: 95,571,107 (GRCm38)	W45*	probably null	Het
Psg29	A	T	7: 17,210,696 (GRCm38)	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,283,542 (GRCm38)		probably null	Het
Serpinb9c	C	T	13: 33,154,541 (GRCm38)	G125E	probably damaging	Het
Skint4	A	G	4: 112,119,868 (GRCm38)	T152A	probably benign	Het
Slc26a2	A	G	18: 61,198,578 (GRCm38)	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,328,526 (GRCm38)		probably null	Het
Ttc39d	A	G	17: 80,217,246 (GRCm38)	K445E	probably damaging	Het
Ttn	T	A	2: 76,764,520 (GRCm38)	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,066,255 (GRCm38)	V510A	possibly damaging	Het
Usf1	T	C	1: 171,418,060 (GRCm38)	L291P	possibly damaging	Het
Usp7	T	C	16: 8,698,469 (GRCm38)	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,660,191 (GRCm38)	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,774,347 (GRCm38)	Q163L	probably 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
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
R6237:Myo5b	UTSW	18	74,742,178 (GRCm38)	missense	probably damaging	1.00
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'- TTATTGCTGGCAGAATGAACTCTG -3'
(R):5'- TGCCAGCAGCTAAATTCTCC -3'

Sequencing Primer
(F):5'- GCAGAATGAACTCTGACTTGTCGC -3'
(R):5'- GCAGCTAAATTCTCCCATGACATG -3'

Posted On

2014-10-16