Mutagenetix > Incidental Mutation

Incidental Mutation 'R7739:Vtcn1'

596410

Institutional Source

Beutler Lab

Gene Symbol

Vtcn1

Ensembl Gene

ENSMUSG00000051076

Gene Name

V-set domain containing T cell activation inhibitor 1

Synonyms

B7-H4, B7x

MMRRC Submission

045795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R7739 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100732775-100804238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100791211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 83 (F83S)

Ref Sequence

ENSEMBL: ENSMUSP00000057721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054791]

AlphaFold

Q7TSP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000054791
AA Change: F83S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057721
Gene: ENSMUSG00000051076
AA Change: F83S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
IG	41	146	3.13e-5	SMART
Blast:IG_like	153	243	5e-39	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for this mutation display stronger Th1 responses upon parasitic infection by L. major including reduced footpad swelling and lower parasite burden compared to controls. Responses to other Th1-driven immune responses are normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,885,875 (GRCm39)	A336S	probably benign	Het
Abca8b	A	G	11: 109,865,417 (GRCm39)	S347P	probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Atp13a4	A	G	16: 29,275,419 (GRCm39)	I355T		Het
Atp2a2	G	A	5: 122,607,768 (GRCm39)	T247I	probably damaging	Het
Atp2b1	T	A	10: 98,837,227 (GRCm39)	D555E	probably benign	Het
Aurkb	G	T	11: 68,939,058 (GRCm39)	G94*	probably null	Het
B130006D01Rik	A	T	11: 95,616,986 (GRCm39)	H37L	unknown	Het
Cabin1	A	G	10: 75,494,492 (GRCm39)	L1629P	probably damaging	Het
Ccdc168	G	A	1: 44,095,578 (GRCm39)	T1840I	possibly damaging	Het
Ccdc80	A	C	16: 44,916,186 (GRCm39)	D314A	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Chd9	T	C	8: 91,761,653 (GRCm39)	L2246P	probably damaging	Het
Cpsf1	T	A	15: 76,484,511 (GRCm39)	M657L	probably benign	Het
Dmtf1	A	G	5: 9,190,453 (GRCm39)	V87A	probably damaging	Het
Drd5	G	T	5: 38,477,421 (GRCm39)	W138L	probably damaging	Het
Dspp	G	A	5: 104,326,012 (GRCm39)	D792N	unknown	Het
Fat2	C	A	11: 55,171,957 (GRCm39)	E2919*	probably null	Het
Fgf20	A	G	8: 40,732,937 (GRCm39)	V167A	probably damaging	Het
Grm5	T	C	7: 87,779,266 (GRCm39)	V934A	possibly damaging	Het
Gtf3c3	G	T	1: 54,444,198 (GRCm39)	A730D	possibly damaging	Het
H2-T24	A	G	17: 36,325,483 (GRCm39)	V335A	probably benign	Het
Havcr2	T	G	11: 46,347,384 (GRCm39)	N120K	probably damaging	Het
Hmcn2	T	C	2: 31,348,038 (GRCm39)	F4895L	possibly damaging	Het
Igsf3	T	C	3: 101,342,847 (GRCm39)	Y475H	probably damaging	Het
Lonp1	T	C	17: 56,933,620 (GRCm39)	D85G	probably benign	Het
Lrrc49	T	C	9: 60,500,975 (GRCm39)	S657G	probably benign	Het
Lrrk2	T	A	15: 91,584,816 (GRCm39)	Y382N	probably damaging	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mtf1	T	A	4: 124,718,081 (GRCm39)	C260S	probably damaging	Het
Naa35	A	G	13: 59,747,598 (GRCm39)	D110G	probably damaging	Het
Npas3	A	T	12: 54,115,501 (GRCm39)	T808S	probably damaging	Het
Or5a1	A	G	19: 12,097,909 (GRCm39)	W56R	probably damaging	Het
Pax9	A	T	12: 56,746,884 (GRCm39)	H240L	probably benign	Het
Pik3c2a	T	C	7: 115,993,529 (GRCm39)	T413A	probably benign	Het
Pik3r1	A	G	13: 101,846,205 (GRCm39)	V127A	probably benign	Het
Pik3r5	A	G	11: 68,381,324 (GRCm39)	E170G	probably damaging	Het
Polr1a	T	C	6: 71,931,819 (GRCm39)	I966T	possibly damaging	Het
Prelid2	A	G	18: 42,045,433 (GRCm39)		probably null	Het
Rab29	T	A	1: 131,799,923 (GRCm39)	M166K	probably damaging	Het
Rab2b	T	C	14: 52,503,717 (GRCm39)	E135G	probably damaging	Het
Rnf103	T	A	6: 71,486,463 (GRCm39)	S365T	possibly damaging	Het
Rnf213	G	A	11: 119,301,687 (GRCm39)	E387K		Het
Sh3d19	T	C	3: 86,031,038 (GRCm39)	V734A	probably benign	Het
Spata31e5	T	A	1: 28,816,689 (GRCm39)	T448S	possibly damaging	Het
Spmip3	T	A	1: 177,570,828 (GRCm39)	I54K	probably damaging	Het
Ssbp1	T	G	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Tbc1d31	C	T	15: 57,799,494 (GRCm39)	R227*	probably null	Het
Tcerg1	A	G	18: 42,657,039 (GRCm39)	T174A	unknown	Het
Tenm2	T	C	11: 35,960,388 (GRCm39)	S980G	possibly damaging	Het
Trim30a	T	C	7: 104,079,386 (GRCm39)	I156M	possibly damaging	Het
Trim39	T	C	17: 36,571,396 (GRCm39)	D454G	possibly damaging	Het
Trpc7	A	T	13: 56,921,579 (GRCm39)	*863K	probably null	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Vmn1r33	C	T	6: 66,589,357 (GRCm39)	D66N	probably benign	Het
Vmn2r8	A	T	5: 108,950,043 (GRCm39)	I268N	probably damaging	Het
Vmn2r91	A	C	17: 18,356,080 (GRCm39)	E582D	probably benign	Het
Wdr81	G	T	11: 75,332,811 (GRCm39)	D684E		Het
Wipi1	A	G	11: 109,470,535 (GRCm39)	S295P	probably damaging	Het
Zfp27	A	T	7: 29,593,699 (GRCm39)	H755Q	possibly damaging	Het
Zfp963	A	G	8: 70,195,533 (GRCm39)	F307L	possibly damaging	Het

Other mutations in Vtcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Vtcn1	APN	3	100,795,663 (GRCm39)	missense	probably damaging	1.00
IGL02376:Vtcn1	APN	3	100,799,981 (GRCm39)	missense	probably benign	0.05
IGL02833:Vtcn1	APN	3	100,795,701 (GRCm39)	missense	probably damaging	1.00
IGL02876:Vtcn1	APN	3	100,791,145 (GRCm39)	missense	probably damaging	0.97
IGL03018:Vtcn1	APN	3	100,791,226 (GRCm39)	missense	probably damaging	0.98
R2431:Vtcn1	UTSW	3	100,732,893 (GRCm39)	missense	possibly damaging	0.53
R4194:Vtcn1	UTSW	3	100,795,525 (GRCm39)	missense	probably damaging	0.97
R4881:Vtcn1	UTSW	3	100,799,909 (GRCm39)	missense	probably benign
R6916:Vtcn1	UTSW	3	100,795,479 (GRCm39)	critical splice acceptor site	probably null
R7147:Vtcn1	UTSW	3	100,791,210 (GRCm39)	missense	probably damaging	0.99
R8365:Vtcn1	UTSW	3	100,791,145 (GRCm39)	missense	probably benign	0.15
R8395:Vtcn1	UTSW	3	100,791,070 (GRCm39)	missense	probably benign
R9172:Vtcn1	UTSW	3	100,799,865 (GRCm39)	missense	probably benign	0.00
R9236:Vtcn1	UTSW	3	100,795,533 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAACATGGCTGCCCAAGTAC -3'
(R):5'- TCCGGTCTTATACTCAAGGTTTGC -3'

Sequencing Primer
(F):5'- AAGTACCAGGGCCTCACTG -3'
(R):5'- GGTCTTATACTCAAGGTTTGCATTCC -3'

Posted On

2019-11-26