Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02392:Vgll3'

294285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vgll3

Ensembl Gene

ENSMUSG00000091243

Gene Name

vestigial like family member 3

Synonyms

1700110N18Rik, Vito-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02392

Quality Score

Status

Chromosome

Chromosomal Location

65612143-65663254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65612556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 13 (Y13F)

Ref Sequence

ENSEMBL: ENSMUSP00000153843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168064] [ENSMUST00000227997]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000168064
AA Change: Y13F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131500
Gene: ENSMUSG00000091243
AA Change: Y13F

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
TDU	101	116	9.18e-4	SMART
low complexity region	231	247	N/A	INTRINSIC
low complexity region	279	296	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000227997
AA Change: Y13F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
C2cd6	T	C	1: 59,133,997 (GRCm39)	N8S	probably benign	Het
Cdh8	G	A	8: 99,757,387 (GRCm39)	T737M	probably damaging	Het
Celsr3	T	C	9: 108,711,920 (GRCm39)		probably benign	Het
Cenph	T	A	13: 100,909,269 (GRCm39)	Q46L	probably benign	Het
Dlg5	A	G	14: 24,200,277 (GRCm39)	C1395R	probably damaging	Het
Dnah8	C	T	17: 31,037,025 (GRCm39)		probably benign	Het
Dolk	T	C	2: 30,175,740 (GRCm39)	N102D	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Farp2	G	A	1: 93,505,372 (GRCm39)	R368Q	probably damaging	Het
Fermt3	A	T	19: 6,996,183 (GRCm39)	M4K	probably benign	Het
Fndc8	A	C	11: 82,789,429 (GRCm39)	T196P	probably damaging	Het
Galc	G	A	12: 98,173,672 (GRCm39)	T630I	probably damaging	Het
Gm21970	T	G	16: 91,211,545 (GRCm39)	S128A	possibly damaging	Het
Gpr146	T	C	5: 139,378,533 (GRCm39)	S112P	probably damaging	Het
Grip2	A	G	6: 91,764,276 (GRCm39)	S51P	probably damaging	Het
Htra2	G	T	6: 83,031,280 (GRCm39)	T43N	possibly damaging	Het
Lnpep	T	C	17: 17,799,445 (GRCm39)	Y70C	possibly damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mtdh	A	T	15: 34,099,723 (GRCm39)	N158Y	probably damaging	Het
Neo1	A	T	9: 58,833,094 (GRCm39)	H550Q	possibly damaging	Het
Or2h1b	C	T	17: 37,461,979 (GRCm39)	V295I	probably benign	Het
Or5p57	A	C	7: 107,665,710 (GRCm39)	F68L	probably benign	Het
Pex1	C	T	5: 3,655,952 (GRCm39)	Q260*	probably null	Het
Pex6	T	C	17: 47,034,425 (GRCm39)	V758A	probably damaging	Het
Qsox1	T	C	1: 155,688,346 (GRCm39)	E67G	probably damaging	Het
Rimbp2	C	T	5: 128,848,861 (GRCm39)	S895N	probably benign	Het
Rnls	A	G	19: 33,180,012 (GRCm39)	V28A	possibly damaging	Het
Spidr	T	C	16: 15,707,494 (GRCm39)	*934W	probably null	Het
Spta1	A	T	1: 174,046,380 (GRCm39)	M1654L	probably damaging	Het
Srbd1	C	A	17: 86,295,801 (GRCm39)	V870F	probably benign	Het
Suco	A	T	1: 161,662,136 (GRCm39)	M765K	probably benign	Het
Taok1	A	G	11: 77,440,178 (GRCm39)	Y610H	probably benign	Het
Thbs1	A	G	2: 117,945,141 (GRCm39)	N238S	probably benign	Het
Them7	T	A	2: 105,209,220 (GRCm39)	L180*	probably null	Het
Trim45	A	G	3: 100,832,621 (GRCm39)	I285V	probably benign	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Ttn	A	G	2: 76,601,887 (GRCm39)	S10265P	probably damaging	Het
Ylpm1	T	A	12: 85,061,731 (GRCm39)	M544K	unknown	Het
Ypel1	T	C	16: 16,906,702 (GRCm39)	T500A	probably benign	Het
Zmym1	T	A	4: 126,942,256 (GRCm39)	S711C	probably damaging	Het

Other mutations in Vgll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0786:Vgll3	UTSW	16	65,657,568 (GRCm39)	missense	probably benign
R1237:Vgll3	UTSW	16	65,636,459 (GRCm39)	nonsense	probably null
R1761:Vgll3	UTSW	16	65,636,614 (GRCm39)	missense	probably damaging	0.97
R4956:Vgll3	UTSW	16	65,624,820 (GRCm39)	missense	possibly damaging	0.95
R4978:Vgll3	UTSW	16	65,612,572 (GRCm39)	nonsense	probably null
R5969:Vgll3	UTSW	16	65,636,449 (GRCm39)	missense	probably damaging	1.00
R6031:Vgll3	UTSW	16	65,636,367 (GRCm39)	missense	probably damaging	0.98
R6031:Vgll3	UTSW	16	65,636,367 (GRCm39)	missense	probably damaging	0.98
R6150:Vgll3	UTSW	16	65,625,064 (GRCm39)	critical splice donor site	probably null
R6371:Vgll3	UTSW	16	65,636,131 (GRCm39)	missense	probably damaging	0.99
R6431:Vgll3	UTSW	16	65,612,640 (GRCm39)	missense	probably damaging	0.99
R7269:Vgll3	UTSW	16	65,636,404 (GRCm39)	missense	probably benign	0.00
R8147:Vgll3	UTSW	16	65,624,964 (GRCm39)	missense	probably damaging	1.00
R8558:Vgll3	UTSW	16	65,624,844 (GRCm39)	missense	probably damaging	1.00
R9482:Vgll3	UTSW	16	65,636,229 (GRCm39)	missense	probably benign
R9657:Vgll3	UTSW	16	65,636,343 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16