Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:Myo5b'

307313

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

040825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74575435-74905769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74849108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1116 (S1116P)

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: S1116P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: S1116P

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: S1116P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: S1116P

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: ENSMUST00000122914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146253

Predicted Effect

unknown
Transcript: ENSMUST00000177366
AA Change: S81P

Meta Mutation Damage Score

0.1802

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,361,513 (GRCm39)	N659I	probably benign	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,621,536 (GRCm39)	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,209,870 (GRCm39)	T293I	probably benign	Het
Chd5	A	T	4: 152,461,512 (GRCm39)	T1275S	probably benign	Het
Chtf8	A	T	8: 107,612,537 (GRCm39)	M134K	probably benign	Het
Col11a2	A	T	17: 34,258,599 (GRCm39)		probably benign	Het
Cyp8b1	A	G	9: 121,744,684 (GRCm39)	V216A	probably benign	Het
Dnah8	C	T	17: 31,073,911 (GRCm39)	T4527M	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Erap1	T	A	13: 74,816,147 (GRCm39)	L92Q	probably damaging	Het
Exoc3l	G	T	8: 106,020,037 (GRCm39)	P296H	probably damaging	Het
Fcgbpl1	C	T	7: 27,853,719 (GRCm39)	P1561L	probably damaging	Het
Foxl3	A	T	5: 138,806,723 (GRCm39)	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,162 (GRCm39)	N133K	probably benign	Het
Itgax	G	T	7: 127,735,445 (GRCm39)	R504S	possibly damaging	Het
Itgb4	A	G	11: 115,896,752 (GRCm39)	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,735,838 (GRCm39)	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,596,983 (GRCm39)	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga1	G	T	17: 30,076,596 (GRCm39)	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,163,842 (GRCm39)	V466A	possibly damaging	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Nemp1	T	C	10: 127,531,342 (GRCm39)	L311P	probably damaging	Het
Nup205	A	G	6: 35,196,677 (GRCm39)	R1138G	probably damaging	Het
Nup54	A	G	5: 92,565,388 (GRCm39)	M443T	probably damaging	Het
Peak1	T	C	9: 56,167,649 (GRCm39)	E93G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Poll	A	G	19: 45,546,857 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Pygm	A	T	19: 6,442,980 (GRCm39)	I556F	probably benign	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rcor3	G	T	1: 191,785,385 (GRCm39)	T361K	possibly damaging	Het
Robo4	A	G	9: 37,313,313 (GRCm39)		probably benign	Het
Rps15	T	C	10: 80,129,673 (GRCm39)	V96A	probably benign	Het
Rrm2	T	A	12: 24,759,431 (GRCm39)	N55K	probably damaging	Het
Shank2	T	C	7: 143,682,112 (GRCm39)	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,382,819 (GRCm39)	E3*	probably null	Het
Slc7a8	T	A	14: 54,973,298 (GRCm39)	E223V	probably benign	Het
Snx13	A	G	12: 35,194,096 (GRCm39)	K880E	probably benign	Het
Spinkl	T	G	18: 44,301,216 (GRCm39)	M41L	probably benign	Het
Srp54a	A	C	12: 55,136,042 (GRCm39)	N19T	probably benign	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Sytl1	G	A	4: 132,982,935 (GRCm39)	Q359*	probably null	Het
Tlr6	A	T	5: 65,110,938 (GRCm39)	F656L	probably damaging	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tmem45a2	C	T	16: 56,859,398 (GRCm39)	D278N	probably benign	Het
Trav7-1	T	C	14: 52,892,791 (GRCm39)		probably benign	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,779,882 (GRCm39)		probably benign	Het
Usp9y	C	T	Y: 1,313,741 (GRCm39)	M2188I	probably damaging	Het
Utrn	C	A	10: 12,625,774 (GRCm39)		probably null	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,524,390 (GRCm39)	Y59F	probably damaging	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74,787,147 (GRCm39)	splice site	probably benign
IGL01083:Myo5b	APN	18	74,866,974 (GRCm39)	splice site	probably benign
IGL01448:Myo5b	APN	18	74,777,161 (GRCm39)	missense	probably damaging	0.97
IGL01516:Myo5b	APN	18	74,760,266 (GRCm39)	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74,873,620 (GRCm39)	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74,713,467 (GRCm39)	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74,848,007 (GRCm39)	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74,702,838 (GRCm39)	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74,831,348 (GRCm39)	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74,850,070 (GRCm39)	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74,771,111 (GRCm39)	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74,848,010 (GRCm39)	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74,828,438 (GRCm39)	splice site	probably benign
IGL02806:Myo5b	APN	18	74,750,151 (GRCm39)	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74,894,039 (GRCm39)	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74,713,615 (GRCm39)	splice site	probably benign
IGL03061:Myo5b	APN	18	74,767,630 (GRCm39)	missense	probably benign	0.02
unrat	UTSW	18	74,786,432 (GRCm39)	missense	possibly damaging	0.93
BB007:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
BB017:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
R0085:Myo5b	UTSW	18	74,834,751 (GRCm39)	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74,875,242 (GRCm39)	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74,875,251 (GRCm39)	missense	probably benign
R0242:Myo5b	UTSW	18	74,794,787 (GRCm39)	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74,794,787 (GRCm39)	missense	possibly damaging	0.95
R0471:Myo5b	UTSW	18	74,862,025 (GRCm39)	splice site	probably benign
R0494:Myo5b	UTSW	18	74,787,038 (GRCm39)	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74,758,712 (GRCm39)	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74,758,658 (GRCm39)	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74,777,143 (GRCm39)	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74,777,272 (GRCm39)	splice site	probably benign
R1468:Myo5b	UTSW	18	74,873,574 (GRCm39)	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74,873,574 (GRCm39)	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74,702,853 (GRCm39)	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74,867,061 (GRCm39)	missense	probably benign
R1600:Myo5b	UTSW	18	74,846,611 (GRCm39)	unclassified	probably benign
R1639:Myo5b	UTSW	18	74,840,987 (GRCm39)	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74,875,218 (GRCm39)	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74,710,680 (GRCm39)	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74,710,526 (GRCm39)	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74,892,263 (GRCm39)	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74,758,676 (GRCm39)	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74,892,158 (GRCm39)	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74,895,689 (GRCm39)	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74,794,726 (GRCm39)	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74,849,108 (GRCm39)	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74,828,474 (GRCm39)	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74,873,598 (GRCm39)	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74,873,598 (GRCm39)	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74,767,552 (GRCm39)	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74,892,311 (GRCm39)	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74,873,559 (GRCm39)	missense	probably benign
R4285:Myo5b	UTSW	18	74,847,920 (GRCm39)	missense	probably benign
R4308:Myo5b	UTSW	18	74,864,811 (GRCm39)	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74,831,345 (GRCm39)	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74,713,479 (GRCm39)	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74,758,745 (GRCm39)	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74,855,533 (GRCm39)	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74,877,752 (GRCm39)	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74,828,451 (GRCm39)	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74,877,701 (GRCm39)	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74,828,455 (GRCm39)	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74,760,264 (GRCm39)	missense	probably damaging	0.98
R5004:Myo5b	UTSW	18	74,877,844 (GRCm39)	critical splice donor site	probably null
R5024:Myo5b	UTSW	18	74,849,105 (GRCm39)	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74,771,224 (GRCm39)	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74,834,745 (GRCm39)	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74,848,003 (GRCm39)	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74,833,677 (GRCm39)	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74,795,741 (GRCm39)	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74,875,246 (GRCm39)	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74,787,128 (GRCm39)	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74,834,592 (GRCm39)	missense	probably benign
R5875:Myo5b	UTSW	18	74,840,973 (GRCm39)	splice site	probably null
R6088:Myo5b	UTSW	18	74,853,969 (GRCm39)	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74,833,750 (GRCm39)	missense	probably benign	0.19
R6237:Myo5b	UTSW	18	74,875,249 (GRCm39)	missense	probably damaging	1.00
R6265:Myo5b	UTSW	18	74,710,511 (GRCm39)	splice site	probably null
R6267:Myo5b	UTSW	18	74,750,062 (GRCm39)	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74,903,456 (GRCm39)	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74,750,086 (GRCm39)	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74,834,574 (GRCm39)	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74,834,574 (GRCm39)	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74,750,106 (GRCm39)	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74,903,396 (GRCm39)	missense	probably benign
R6876:Myo5b	UTSW	18	74,841,026 (GRCm39)	missense	probably benign
R6880:Myo5b	UTSW	18	74,855,501 (GRCm39)	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74,809,756 (GRCm39)	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74,786,432 (GRCm39)	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74,834,599 (GRCm39)	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74,828,498 (GRCm39)	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74,841,095 (GRCm39)	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74,864,802 (GRCm39)	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74,767,582 (GRCm39)	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74,760,325 (GRCm39)	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74,713,467 (GRCm39)	missense	probably damaging	1.00
R7670:Myo5b	UTSW	18	74,834,517 (GRCm39)	missense	probably benign	0.05
R7754:Myo5b	UTSW	18	74,767,630 (GRCm39)	missense	probably benign	0.02
R7930:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
R8013:Myo5b	UTSW	18	74,893,970 (GRCm39)	nonsense	probably null
R8271:Myo5b	UTSW	18	74,760,261 (GRCm39)	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74,867,033 (GRCm39)	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74,777,049 (GRCm39)	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74,875,273 (GRCm39)	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74,903,411 (GRCm39)	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74,892,169 (GRCm39)	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74,841,043 (GRCm39)	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74,853,934 (GRCm39)	missense	probably benign
R9283:Myo5b	UTSW	18	74,777,149 (GRCm39)	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74,760,246 (GRCm39)	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74,877,831 (GRCm39)	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74,861,968 (GRCm39)	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74,848,017 (GRCm39)	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74,892,231 (GRCm39)	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74,856,841 (GRCm39)	missense	probably benign
RF009:Myo5b	UTSW	18	74,777,070 (GRCm39)	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74,877,820 (GRCm39)	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74,750,088 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACTGTTCCAAGGAGCATTACTG -3'
(R):5'- GACTGTGTGCTGCTAAGTTCAC -3'

Sequencing Primer
(F):5'- GCATTACTGCCCAGAGCTG -3'
(R):5'- GTGTGCTGCTAAGTTCACTGCATC -3'

Posted On

2015-04-17