Mutagenetix > Incidental Mutation

Incidental Mutation 'R3970:Sema3g'

310938

Institutional Source

Beutler Lab

Gene Symbol

Sema3g

Ensembl Gene

ENSMUSG00000021904

Gene Name

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

Synonyms

MMRRC Submission

040938-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30939830-30952309 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 30948478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087643 (fasta)

Gene Model

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

AlphaFold

Q4LFA9

Predicted Effect

probably null
Transcript: ENSMUST00000090180

SMART Domains

Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,779 (GRCm39)	M583T	probably damaging	Het
Actn4	T	C	7: 28,661,457 (GRCm39)	K51R	probably benign	Het
Adamts15	T	C	9: 30,821,898 (GRCm39)	Y513C	probably benign	Het
Akap13	T	A	7: 75,219,699 (GRCm39)	L34*	probably null	Het
Akap6	A	T	12: 53,188,236 (GRCm39)	K1883N	probably damaging	Het
Ano1	T	C	7: 144,161,700 (GRCm39)	N749D	probably benign	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cherp	T	C	8: 73,223,795 (GRCm39)	H196R	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,890,838 (GRCm39)	T392S	unknown	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Csf2rb	T	C	15: 78,225,667 (GRCm39)	V286A	probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Kif5c	A	G	2: 49,578,756 (GRCm39)	E128G	probably damaging	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Myof	C	T	19: 37,889,711 (GRCm39)	V1287M	probably damaging	Het
Myof	T	G	19: 38,011,058 (GRCm39)	D60A	possibly damaging	Het
Myrf	A	G	19: 10,200,601 (GRCm39)	L332P	probably damaging	Het
Nampt	T	A	12: 32,883,095 (GRCm39)	D93E	probably benign	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,501,568 (GRCm39)	A45E	probably damaging	Het
Obscn	G	A	11: 58,942,488 (GRCm39)	P4898L	probably damaging	Het
Or8c11	T	C	9: 38,289,222 (GRCm39)	V15A	probably damaging	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pcdh8	C	T	14: 80,007,706 (GRCm39)	G286S	possibly damaging	Het
Pcdha2	C	A	18: 37,073,750 (GRCm39)	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,820,654 (GRCm39)	L734F	possibly damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pign	A	C	1: 105,583,728 (GRCm39)	S125A	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,824,218 (GRCm39)	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,546,171 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Pramel4	A	T	4: 143,795,044 (GRCm39)	N477I	possibly damaging	Het
Psd	C	T	19: 46,312,845 (GRCm39)	R175H	probably benign	Het
Sf3b1	G	A	1: 55,051,341 (GRCm39)	R196*	probably null	Het
Slc26a4	G	T	12: 31,578,686 (GRCm39)	H656N	probably damaging	Het
Slc6a7	A	C	18: 61,136,417 (GRCm39)	L328R	possibly damaging	Het
Stab2	T	C	10: 86,714,750 (GRCm39)	T139A	probably damaging	Het
Tiam2	T	A	17: 3,479,106 (GRCm39)	I613N	probably damaging	Het
Tlk1	A	G	2: 70,546,996 (GRCm39)	V695A	probably damaging	Het
Trpc2	A	G	7: 101,733,531 (GRCm39)	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,057,315 (GRCm39)	V491A	probably damaging	Het
Vwa7	G	A	17: 35,236,684 (GRCm39)	A84T	probably damaging	Het
Zfp219	T	A	14: 52,244,421 (GRCm39)	Q541L	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTTCCCTTGCTGACCTGG -3'
(R):5'- CTTCAAAGCCAAGCCACGTG -3'

Sequencing Primer
(F):5'- GGCCTGATCCTCTCTACAGAAG -3'
(R):5'- GCGTTAGCATAGGAACCTTCCAG -3'

Posted On

2015-04-29