Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02080:Vgll4'

283379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vgll4

Ensembl Gene

ENSMUSG00000030315

Gene Name

vestigial like family member 4

Synonyms

VGL-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02080

Quality Score

Status

Chromosome

Chromosomal Location

114837589-114946955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114839759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 178 (C178R)

Ref Sequence

ENSEMBL: ENSMUSP00000123139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000032459] [ENSMUST00000139640] [ENSMUST00000147639] [ENSMUST00000183165] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182902]

AlphaFold

Q80V24

Predicted Effect

probably benign
Transcript: ENSMUST00000032457

SMART Domains

Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000032459
AA Change: C184R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032459
Gene: ENSMUSG00000030315
AA Change: C184R

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

noncoding transcript
Transcript: ENSMUST00000123478

Predicted Effect

probably damaging
Transcript: ENSMUST00000139640
AA Change: C178R

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

SMART Domains

Protein: ENSMUSP00000118618
Gene: ENSMUSG00000030315
AA Change: C178R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147639
AA Change: C178R

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

SMART Domains

Protein: ENSMUSP00000123139
Gene: ENSMUSG00000030315
AA Change: C178R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182860

Predicted Effect

probably benign
Transcript: ENSMUST00000183165

SMART Domains

Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	311	467	9.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169310

SMART Domains

Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ATG7_N	9	319	1.5e-106	PFAM
Pfam:ThiF	329	643	7.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182428

SMART Domains

Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182793

SMART Domains

Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182902

SMART Domains

Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd33	A	G	7: 43,178,274 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnajc1	A	G	2: 18,321,159 (GRCm39)		probably benign	Het
Dpysl2	A	T	14: 67,067,394 (GRCm39)	D172E	probably benign	Het
Fbxw28	A	G	9: 109,168,641 (GRCm39)	L17P	probably damaging	Het
Gprin3	C	A	6: 59,331,176 (GRCm39)	R377M	possibly damaging	Het
Hectd4	T	A	5: 121,504,669 (GRCm39)		probably benign	Het
Kif26a	G	T	12: 112,124,000 (GRCm39)	A202S	probably damaging	Het
Lrig2	A	T	3: 104,371,440 (GRCm39)	D754E	probably damaging	Het
Lrit2	A	G	14: 36,791,031 (GRCm39)	K237E	probably damaging	Het
Med13	A	G	11: 86,174,638 (GRCm39)	V1729A	probably damaging	Het
Mon2	A	G	10: 122,888,095 (GRCm39)	S100P	probably damaging	Het
Mrnip	A	G	11: 50,088,502 (GRCm39)	D166G	probably benign	Het
Or1s2	T	C	19: 13,758,846 (GRCm39)	F288S	probably damaging	Het
Or4k1	A	T	14: 50,377,579 (GRCm39)	N172K	probably damaging	Het
Pkd1l1	T	A	11: 8,911,345 (GRCm39)	N311Y	unknown	Het
Ppara	A	G	15: 85,673,220 (GRCm39)	D137G	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Scube2	A	G	7: 109,451,685 (GRCm39)	F156S	probably damaging	Het
Setd2	T	G	9: 110,376,518 (GRCm39)		probably null	Het
Slc24a2	A	G	4: 87,145,383 (GRCm39)	C224R	probably damaging	Het
Snrnp48	A	G	13: 38,400,466 (GRCm39)	D191G	probably damaging	Het
Spo11	A	G	2: 172,831,188 (GRCm39)	Y266C	probably damaging	Het
Tmem144	G	A	3: 79,730,066 (GRCm39)		probably benign	Het
Tsacc	A	T	3: 88,202,696 (GRCm39)		probably null	Het
Unc5d	T	C	8: 29,381,316 (GRCm39)		probably null	Het
Unc79	A	G	12: 102,968,234 (GRCm39)	I153M	probably damaging	Het
Vmn2r90	T	A	17: 17,933,120 (GRCm39)	S227T	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	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
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
R4407:Vgll4	UTSW	6	114,867,573 (GRCm39)	splice site	probably null
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

Posted On

2015-04-16