Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Sema3g'

279562

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 #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

30939830-30952309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30949781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 654 (T654I)

Ref Sequence

ENSEMBL: ENSMUSP00000087643 (fasta)

Gene Model

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

AlphaFold

Q4LFA9

Predicted Effect

probably benign
Transcript: ENSMUST00000090180
AA Change: T654I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: T654I

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atad5	A	G	11: 79,985,533 (GRCm39)	S207G	probably benign	Het
Atp10a	A	G	7: 58,457,141 (GRCm39)	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,359,001 (GRCm39)	N87D	probably damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,328,655 (GRCm39)	T569A	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,497 (GRCm39)	D173G	probably damaging	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	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
IGL02232:Sema3g	APN	14	30,943,181 (GRCm39)	missense	probably damaging	1.00
IGL02477:Sema3g	APN	14	30,949,823 (GRCm39)	missense	probably damaging	0.98
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