Mutagenetix > Incidental Mutation

Incidental Mutation 'R8252:Vgll4'

640181

Institutional Source

Beutler Lab

Gene Symbol

Vgll4

Ensembl Gene

ENSMUSG00000030315

Gene Name

vestigial like family member 4

Synonyms

VGL-4

MMRRC Submission

067678-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114837589-114946955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114867695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 52 (T52K)

Ref Sequence

ENSEMBL: ENSMUSP00000032459 (fasta)

Gene Model

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

AlphaFold

Q80V24

PDB Structure

Crystal structure of the VGLL4-TEAD4 complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032459
AA Change: T52K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032459
Gene: ENSMUSG00000030315
AA Change: T52K

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 damaging
Transcript: ENSMUST00000139640
AA Change: T46K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118618
Gene: ENSMUSG00000030315
AA Change: T46K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147639
AA Change: T46K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123139
Gene: ENSMUSG00000030315
AA Change: T46K

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,861,284 (GRCm39)		probably benign	Het
Ano4	A	G	10: 88,816,881 (GRCm39)	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,730,932 (GRCm39)	D203E	probably benign	Het
Ascc3	T	A	10: 50,518,706 (GRCm39)	M337K	probably benign	Het
Atg13	G	C	2: 91,510,699 (GRCm39)	P343A	probably benign	Het
Cacna1c	C	T	6: 118,634,335 (GRCm39)	V1058I		Het
Cd180	A	G	13: 102,842,504 (GRCm39)	T517A	probably benign	Het
Cd1d2	A	C	3: 86,894,375 (GRCm39)	I48L	probably benign	Het
Cdh19	C	T	1: 110,817,615 (GRCm39)	C709Y	probably benign	Het
Chst10	T	C	1: 38,923,433 (GRCm39)	D51G	probably benign	Het
Clec2g	G	A	6: 128,958,335 (GRCm39)	E184K	probably benign	Het
Col19a1	T	A	1: 24,319,048 (GRCm39)	H1014L	probably benign	Het
Fam135b	T	A	15: 71,404,872 (GRCm39)	H58L	probably benign	Het
Fam171b	A	G	2: 83,708,586 (GRCm39)	I363V	probably benign	Het
Hecw1	C	A	13: 14,515,425 (GRCm39)	G236W	probably damaging	Het
Htra3	A	G	5: 35,810,305 (GRCm39)	M459T	probably benign	Het
Iglc2	A	T	16: 19,017,520 (GRCm39)	C27*	probably null	Het
Il36b	A	T	2: 24,048,825 (GRCm39)	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,358,262 (GRCm39)	N135K	probably damaging	Het
Krt5	A	T	15: 101,620,794 (GRCm39)	I151N	probably damaging	Het
Lama4	A	T	10: 38,936,142 (GRCm39)	M606L	probably benign	Het
Lgr6	T	A	1: 134,931,215 (GRCm39)	S280C	probably null	Het
Msh3	T	A	13: 92,357,569 (GRCm39)	T967S	probably damaging	Het
Ndufb4	T	C	16: 37,474,637 (GRCm39)	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,710,058 (GRCm39)	M724V	probably benign	Het
Nudt12	T	C	17: 59,318,089 (GRCm39)	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,082,174 (GRCm39)	Q301K	probably damaging	Het
Or2t46	T	A	11: 58,471,958 (GRCm39)	I96N	probably damaging	Het
Or4c102	A	G	2: 88,423,011 (GRCm39)	R288G	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Or6e1	T	A	14: 54,519,704 (GRCm39)	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,140,590 (GRCm39)	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,472 (GRCm39)	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,727,058 (GRCm39)	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,109,392 (GRCm39)	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,113,511 (GRCm39)		probably benign	Het
Pwwp3a	A	G	10: 80,077,694 (GRCm39)	I656V	probably benign	Het
Rab11fip2	C	T	19: 59,925,422 (GRCm39)	S265N	probably benign	Het
Rnf10	A	T	5: 115,398,373 (GRCm39)	D53E	probably benign	Het
Scgb2b11	T	C	7: 31,908,764 (GRCm39)	E112G	probably benign	Het
Scml4	T	C	10: 42,800,100 (GRCm39)	Y85H	noncoding transcript	Het
Setd5	T	A	6: 113,127,916 (GRCm39)	Y1290N	probably benign	Het
Sgk1	T	A	10: 21,873,298 (GRCm39)	C375S	probably damaging	Het
Sik2	A	G	9: 50,828,415 (GRCm39)	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,410 (GRCm39)	V776D	probably damaging	Het
Slamf1	T	A	1: 171,594,796 (GRCm39)	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415 (GRCm39)		probably benign	Het
Spg11	G	T	2: 121,918,820 (GRCm39)		probably benign	Het
Sry	C	A	Y: 2,663,298 (GRCm39)	A121S	possibly damaging	Het
Sspo	C	T	6: 48,462,386 (GRCm39)	T3719I	probably damaging	Het
Tcap	T	C	11: 98,275,171 (GRCm39)	S102P	probably benign	Het
Thap7	T	C	16: 17,346,486 (GRCm39)	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Trim8	A	G	19: 46,504,059 (GRCm39)	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,200,528 (GRCm39)	M4692K	unknown	Het
Uvssa	A	G	5: 33,549,523 (GRCm39)	S395G	probably benign	Het
Vmn2r7	A	G	3: 64,600,527 (GRCm39)	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,387,134 (GRCm39)	S158T	probably damaging	Het
Wdr70	A	T	15: 8,072,337 (GRCm39)		probably benign	Het
Zbtb48	A	T	4: 152,105,344 (GRCm39)	C463S	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
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
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
R8305:Vgll4	UTSW	6	114,867,613 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGATGACGTGATGGGAG -3'
(R):5'- TCCACACAGAGTTTTGCAAGG -3'

Sequencing Primer
(F):5'- TCATGATGACGTGATGGGAGGAAAG -3'
(R):5'- CAGAGTTTTGCAAGGGGCCG -3'

Posted On

2020-07-28