Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Myo5b'

542942

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74653361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 442 (F442L)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074157
AA Change: F442L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: F442L

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

possibly damaging
Transcript: ENSMUST00000121875
AA Change: F442L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: F442L

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

Meta Mutation Damage Score

0.9328

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,736,856 (GRCm38)	*192R	probably null	Het
Ankar	A	C	1: 72,658,482 (GRCm38)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,471,568 (GRCm38)	A20E	unknown	Het
Arhgap1	T	A	2: 91,668,198 (GRCm38)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,370,148 (GRCm38)	V714A	probably benign	Het
Arrdc3	T	C	13: 80,883,657 (GRCm38)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,663,322 (GRCm38)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,606,614 (GRCm38)	R98G	probably damaging	Het
Capn10	T	C	1: 92,943,424 (GRCm38)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,818,703 (GRCm38)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,176,488 (GRCm38)		probably null	Het
Cnot1	T	C	8: 95,734,129 (GRCm38)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,679,417 (GRCm38)	N893S	probably benign	Het
Ctsh	G	A	9: 90,054,604 (GRCm38)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,452,587 (GRCm38)	E214*	probably null	Het
Des	A	G	1: 75,366,787 (GRCm38)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,708,395 (GRCm38)	V109A	probably benign	Het
Dock1	A	G	7: 135,163,403 (GRCm38)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,190,853 (GRCm38)	I2184T	probably benign	Het
Enc1	C	T	13: 97,245,120 (GRCm38)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,946,108 (GRCm38)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,819,708 (GRCm38)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,068,388 (GRCm38)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,389,650 (GRCm38)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,735,441 (GRCm38)	E744Q	probably null	Het
Gmps	T	A	3: 64,015,539 (GRCm38)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,278,408 (GRCm38)	Y152F	probably damaging	Het
Herc2	G	A	7: 56,106,453 (GRCm38)	R747H	possibly damaging	Het
Herc2	A	G	7: 56,132,480 (GRCm38)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,896,632 (GRCm38)	T14A	probably benign	Het
Insr	T	A	8: 3,161,372 (GRCm38)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,455,306 (GRCm38)	G127C	probably damaging	Het
Krt10	T	C	11: 99,385,630 (GRCm38)	N65S	possibly damaging	Het
Lrig3	A	G	10: 126,014,869 (GRCm38)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,191,930 (GRCm38)	N306H	probably benign	Het
Map4k3	A	G	17: 80,636,732 (GRCm38)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,432,110 (GRCm38)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,713,865 (GRCm38)	L60S	probably damaging	Het
Muc4	A	T	16: 32,751,999 (GRCm38)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,206,681 (GRCm38)	V1914I	possibly damaging	Het
Naa35	T	A	13: 59,627,943 (GRCm38)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,481,245 (GRCm38)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,603,668 (GRCm38)	T5A	probably benign	Het
Or5af2	T	C	11: 58,817,113 (GRCm38)	F35S	probably damaging	Het
Otx1	A	T	11: 21,996,615 (GRCm38)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,497,158 (GRCm38)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,417,988 (GRCm38)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,237,708 (GRCm38)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm38)	D354A	probably benign	Het
Prtg	T	G	9: 72,851,501 (GRCm38)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,590,693 (GRCm38)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,505,905 (GRCm38)	S71G	probably benign	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Samd7	G	C	3: 30,751,123 (GRCm38)	K18N	probably benign	Het
Shank1	A	G	7: 44,344,913 (GRCm38)	I833V	unknown	Het
Slc35f1	C	A	10: 53,021,911 (GRCm38)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,703,093 (GRCm38)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,731,615 (GRCm38)	I36F	probably benign	Het
Sstr4	T	A	2: 148,396,249 (GRCm38)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,269,900 (GRCm38)	E732K	probably benign	Het
Trat1	A	G	16: 48,754,271 (GRCm38)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,190,644 (GRCm38)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,679,956 (GRCm38)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 33,099,117 (GRCm38)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,812,096 (GRCm38)	D7G	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
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
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
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'- ATGGCTGACCTCATTGTCTG -3'
(R):5'- TGGAGCAGAATCACACCGATC -3'

Sequencing Primer
(F):5'- GTCCCTTATCAGTTGAAAAGAAAGC -3'
(R):5'- TCACACCGATCTCAGAAGATG -3'

Posted On

2018-11-28