Mutagenetix > Incidental Mutation

Incidental Mutation 'R4407:Vgll4'

327708

Institutional Source

Beutler Lab

Gene Symbol

Vgll4

Ensembl Gene

ENSMUSG00000030315

Gene Name

vestigial like family member 4

Synonyms

VGL-4

MMRRC Submission

041689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4407 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114837589-114946955 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 114867573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032459] [ENSMUST00000139640] [ENSMUST00000147639]

AlphaFold

Q80V24

Predicted Effect

probably null
Transcript: ENSMUST00000032459

SMART Domains

Protein: ENSMUSP00000032459
Gene: ENSMUSG00000030315

Domain	Start	End	E-Value	Type
TDU	203	218	5.27e-4	SMART
TDU	231	246	9.84e-4	SMART
low complexity region	251	264	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139640

SMART Domains

Protein: ENSMUSP00000118618
Gene: ENSMUSG00000030315

Domain	Start	End	E-Value	Type
Pfam:VGLL4	4	189	1.1e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000147639

SMART Domains

Protein: ENSMUSP00000123139
Gene: ENSMUSG00000030315

Domain	Start	End	E-Value	Type
TDU	197	212	5.27e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,422,881 (GRCm39)		noncoding transcript	Het
Bbs10	A	G	10: 111,135,720 (GRCm39)	T278A	probably benign	Het
Bcl6b	A	G	11: 70,116,929 (GRCm39)	L450P	probably damaging	Het
Braf	T	G	6: 39,592,654 (GRCm39)	K674Q	probably damaging	Het
Cep112	C	T	11: 108,410,027 (GRCm39)	T481I	possibly damaging	Het
Cep135	T	A	5: 76,772,514 (GRCm39)	M633K	probably benign	Het
Cpped1	T	C	16: 11,623,285 (GRCm39)	Y278C	probably damaging	Het
Depdc5	T	A	5: 33,061,878 (GRCm39)		probably null	Het
Dolpp1	C	T	2: 30,286,464 (GRCm39)	A128V	possibly damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Fat4	A	T	3: 39,012,689 (GRCm39)	D2328V	probably benign	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fkbp3	T	C	12: 65,116,778 (GRCm39)	T53A	probably damaging	Het
Flg2	G	T	3: 93,122,176 (GRCm39)	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glyctk	A	T	9: 106,034,307 (GRCm39)		probably benign	Het
Gm6430	T	C	1: 96,953,297 (GRCm39)		noncoding transcript	Het
Golga1	C	A	2: 38,909,653 (GRCm39)		probably null	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,189,782 (GRCm39)	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,088,124 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,335 (GRCm39)	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,332,861 (GRCm39)	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,524,664 (GRCm39)	D665E	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4p7	A	T	2: 88,222,427 (GRCm39)	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,277,499 (GRCm39)	V160L	probably benign	Het
Pcnt	T	C	10: 76,210,704 (GRCm39)	E2473G	possibly damaging	Het
Pitpnm2	T	A	5: 124,290,678 (GRCm39)	I3L	possibly damaging	Het
Prkd3	C	A	17: 79,290,987 (GRCm39)	W176L	probably damaging	Het
Prpf39	C	T	12: 65,103,040 (GRCm39)	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,384,856 (GRCm39)	F655I	probably damaging	Het
Rrp12	T	C	19: 41,880,990 (GRCm39)	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,416,638 (GRCm39)	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,356,684 (GRCm39)	S115T	probably damaging	Het
Spg11	A	C	2: 121,905,813 (GRCm39)	D1277E	probably benign	Het
Sspo	A	G	6: 48,437,454 (GRCm39)	D1279G	probably damaging	Het
St18	T	C	1: 6,898,061 (GRCm39)	I621T	probably benign	Het
Tbc1d31	T	A	15: 57,783,438 (GRCm39)	D112E	possibly damaging	Het
Tdpoz6	C	A	3: 93,599,419 (GRCm39)	V317L	probably benign	Het
Tgm4	A	T	9: 122,885,595 (GRCm39)	D379V	probably damaging	Het
Thyn1	A	T	9: 26,914,893 (GRCm39)	D15V	possibly damaging	Het
Timd6	A	G	11: 46,468,207 (GRCm39)	T94A	probably damaging	Het
Tm4sf19	T	C	16: 32,226,712 (GRCm39)	V167A	possibly damaging	Het
Trim38	A	C	13: 23,975,474 (GRCm39)	Q471P	probably benign	Het
Trmt1	T	A	8: 85,424,384 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375 (GRCm39)	I1500V	probably benign	Het
Vmn1r173	T	A	7: 23,402,441 (GRCm39)	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,614,913 (GRCm39)	G226R	probably damaging	Het
Wnk3	C	A	X: 150,016,209 (GRCm39)	P555Q	probably benign	Het
Yes1	T	G	5: 32,797,929 (GRCm39)	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 103,604,294 (GRCm39)	R322*	probably null	Het

Other mutations in Vgll4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01454:Vgll4	APN	6	114,840,957 (GRCm39)	missense	probably benign	0.10
IGL02080:Vgll4	APN	6	114,839,759 (GRCm39)	missense	probably damaging	1.00
IGL02551:Vgll4	APN	6	114,839,254 (GRCm39)	missense	probably damaging	1.00
R0946:Vgll4	UTSW	6	114,867,769 (GRCm39)	critical splice acceptor site	probably null
R0946:Vgll4	UTSW	6	114,867,768 (GRCm39)	critical splice acceptor site	probably null
R1710:Vgll4	UTSW	6	114,934,895 (GRCm39)	critical splice donor site	probably null
R1815:Vgll4	UTSW	6	114,841,020 (GRCm39)	missense	probably benign	0.05
R1843:Vgll4	UTSW	6	114,839,756 (GRCm39)	missense	probably benign	0.22
R1922:Vgll4	UTSW	6	114,898,296 (GRCm39)	missense	probably benign	0.29
R5147:Vgll4	UTSW	6	114,867,576 (GRCm39)	critical splice donor site	probably null
R5714:Vgll4	UTSW	6	114,867,737 (GRCm39)	missense	possibly damaging	0.70
R6080:Vgll4	UTSW	6	114,898,299 (GRCm39)	missense	probably benign	0.29
R6954:Vgll4	UTSW	6	114,898,328 (GRCm39)	missense	probably damaging	1.00
R7445:Vgll4	UTSW	6	114,839,157 (GRCm39)	missense	unknown
R7500:Vgll4	UTSW	6	114,839,293 (GRCm39)	missense	probably damaging	1.00
R8207:Vgll4	UTSW	6	114,839,786 (GRCm39)	missense	probably damaging	1.00
R8252:Vgll4	UTSW	6	114,867,695 (GRCm39)	missense	probably damaging	1.00
R8305:Vgll4	UTSW	6	114,867,613 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGCACCAGTCACTAAAGTC -3'
(R):5'- CCCGACTGCTGATAACATCC -3'

Sequencing Primer
(F):5'- CCAGTCACTAAAGTCAGCTCG -3'
(R):5'- TGCATAGGTGAAGCTTCCCTCAG -3'

Posted On

2015-07-07