Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Sema3g'

294981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema3g

Ensembl Gene

ENSMUSG00000021904

Gene Name

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

30939830-30952309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30949823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 668 (R668L)

Ref Sequence

ENSEMBL: ENSMUSP00000087643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090180]

AlphaFold

Q4LFA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000090180
AA Change: R668L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: R668L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Sema	58	503	2.96e-184	SMART
PSI	521	574	3.2e-11	SMART
IG	588	674	6.41e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity with decreased lymphatic width. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,943 (GRCm39)	I61F	probably benign	Het
Abr	T	C	11: 76,352,186 (GRCm39)	K280E	probably damaging	Het
Acaca	T	C	11: 84,197,994 (GRCm39)		probably benign	Het
Cep131	C	T	11: 119,961,406 (GRCm39)	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858 (GRCm39)	N613D	unknown	Het
Cyp4f39	A	G	17: 32,708,619 (GRCm39)	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,408 (GRCm39)	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,452,318 (GRCm39)		probably null	Het
Elp3	T	C	14: 65,800,760 (GRCm39)	T283A	probably benign	Het
Fads3	C	A	19: 10,033,806 (GRCm39)	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,203,612 (GRCm39)	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,330,854 (GRCm39)	I208M	probably benign	Het
Fbxw17	G	A	13: 50,577,853 (GRCm39)	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,408,832 (GRCm39)	T140M	probably damaging	Het
Hspa14	C	T	2: 3,497,661 (GRCm39)	S277N	probably damaging	Het
Hspg2	C	T	4: 137,271,823 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,303 (GRCm39)	R82S	possibly damaging	Het
Kat6a	A	G	8: 23,419,316 (GRCm39)	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,059,047 (GRCm39)	M445V	probably benign	Het
Lifr	T	G	15: 7,216,404 (GRCm39)	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,915,770 (GRCm39)	M789K	probably benign	Het
Myom3	T	A	4: 135,506,679 (GRCm39)	L484Q	probably benign	Het
Nav2	T	A	7: 49,232,623 (GRCm39)	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,353,131 (GRCm39)		probably null	Het
Nsun7	T	A	5: 66,433,992 (GRCm39)	I214K	probably damaging	Het
Or5k17	T	C	16: 58,746,126 (GRCm39)	I269M	probably benign	Het
Or8c20	C	T	9: 38,260,421 (GRCm39)	S8L	probably benign	Het
Osm	T	A	11: 4,189,604 (GRCm39)	N129K	probably damaging	Het
Plce1	C	T	19: 38,707,997 (GRCm39)		probably benign	Het
Plch1	A	G	3: 63,660,714 (GRCm39)	F302L	probably damaging	Het
Pld2	T	C	11: 70,431,751 (GRCm39)	V27A	possibly damaging	Het
Prex2	A	G	1: 11,274,378 (GRCm39)	D1350G	probably benign	Het
Psme4	T	A	11: 30,792,083 (GRCm39)	V1190D	probably damaging	Het
Sprr2f	T	A	3: 92,273,204 (GRCm39)	M1K	probably null	Het
Sult6b2	G	A	6: 142,747,447 (GRCm39)	P101S	probably damaging	Het
Trem3	G	A	17: 48,556,864 (GRCm39)	V112I	probably benign	Het
Ttll9	T	A	2: 152,842,117 (GRCm39)	F324I	possibly damaging	Het
Ttn	T	A	2: 76,557,104 (GRCm39)	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,163,516 (GRCm39)	K2639E	probably damaging	Het
Vwce	T	C	19: 10,641,982 (GRCm39)		probably null	Het
Zbtb14	T	A	17: 69,694,690 (GRCm39)	D129E	probably benign	Het
Zmym6	C	T	4: 126,972,295 (GRCm39)	Q16*	probably null	Het

Other mutations in Sema3g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Sema3g	APN	14	30,943,684 (GRCm39)	missense	probably damaging	1.00
IGL01650:Sema3g	APN	14	30,943,744 (GRCm39)	missense	probably benign	0.00
IGL01782:Sema3g	APN	14	30,949,748 (GRCm39)	missense	probably damaging	1.00
IGL01784:Sema3g	APN	14	30,944,924 (GRCm39)	missense	probably damaging	1.00
IGL01869:Sema3g	APN	14	30,945,624 (GRCm39)	missense	probably damaging	1.00
IGL01999:Sema3g	APN	14	30,939,922 (GRCm39)	missense	probably benign
IGL02095:Sema3g	APN	14	30,949,781 (GRCm39)	missense	probably benign	0.00
IGL02232:Sema3g	APN	14	30,943,181 (GRCm39)	missense	probably damaging	1.00
IGL02583:Sema3g	APN	14	30,943,476 (GRCm39)	critical splice acceptor site	probably null
R0791:Sema3g	UTSW	14	30,942,861 (GRCm39)	splice site	probably benign
R1225:Sema3g	UTSW	14	30,942,636 (GRCm39)	missense	probably damaging	1.00
R1471:Sema3g	UTSW	14	30,950,002 (GRCm39)	missense	probably damaging	1.00
R2303:Sema3g	UTSW	14	30,944,572 (GRCm39)	missense	probably damaging	1.00
R3968:Sema3g	UTSW	14	30,948,478 (GRCm39)	critical splice donor site	probably null
R3970:Sema3g	UTSW	14	30,948,478 (GRCm39)	critical splice donor site	probably null
R4406:Sema3g	UTSW	14	30,950,116 (GRCm39)	missense	probably benign	0.01
R4773:Sema3g	UTSW	14	30,942,666 (GRCm39)	missense	probably benign	0.04
R7968:Sema3g	UTSW	14	30,942,605 (GRCm39)	missense	probably damaging	0.99
R8179:Sema3g	UTSW	14	30,942,542 (GRCm39)	missense	probably benign	0.00
R9606:Sema3g	UTSW	14	30,943,783 (GRCm39)	missense	probably damaging	1.00
RF021:Sema3g	UTSW	14	30,949,798 (GRCm39)	missense	probably damaging	1.00
X0013:Sema3g	UTSW	14	30,944,068 (GRCm39)	missense	probably benign	0.02
Z1177:Sema3g	UTSW	14	30,948,354 (GRCm39)	missense	probably benign	0.26

Posted On

2015-04-16