Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01784:Sema3g'

154238

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 #

IGL01784

Quality Score

Status

Chromosome

Chromosomal Location

31217860-31230352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31222967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 349 (I349T)

Ref Sequence

ENSEMBL: ENSMUSP00000087643 (fasta)

Gene Model

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

AlphaFold

Q4LFA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000090180
AA Change: I349T

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

SMART Domains

Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: I349T

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,880,619	P309L	possibly damaging	Het
Abca4	A	T	3: 122,138,505	K269N	probably benign	Het
Abcb5	T	C	12: 118,890,664	T839A	probably benign	Het
Adcy7	A	G	8: 88,314,123	D30G	probably damaging	Het
Aldh3b1	A	G	19: 3,921,217	I149T	probably benign	Het
Ap3b1	A	G	13: 94,493,739	D199G	probably damaging	Het
Ddo	A	G	10: 40,631,788		probably benign	Het
Ensa	T	A	3: 95,628,533		probably benign	Het
Etnppl	A	G	3: 130,631,778	I405V	possibly damaging	Het
Fam129a	T	A	1: 151,649,365	Y174N	probably damaging	Het
Fam171b	T	A	2: 83,879,687	L568M	possibly damaging	Het
Fmn2	A	G	1: 174,502,428	D128G	unknown	Het
Fra10ac1	T	A	19: 38,219,677	H43L	probably benign	Het
Gm10436	A	G	12: 88,176,315	Y178H	probably benign	Het
Gm7589	T	C	9: 59,146,027		noncoding transcript	Het
Gsx1	A	G	5: 147,190,129	D254G	probably benign	Het
Hoxb6	A	G	11: 96,300,813	E187G	probably damaging	Het
Kmt2c	A	T	5: 25,313,526	I2385N	probably damaging	Het
Lman1l	T	C	9: 57,620,564	Y36C	probably damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Mccc1	T	G	3: 35,976,748	N390H	probably damaging	Het
Mphosph9	T	C	5: 124,265,310		probably benign	Het
Nfic	T	C	10: 81,406,148	D364G	possibly damaging	Het
Npy	A	G	6: 49,829,334		probably benign	Het
Olfr767	C	T	10: 129,079,355	V203M	probably benign	Het
Osbpl3	A	G	6: 50,344,922	S75P	probably damaging	Het
Plekhg4	G	T	8: 105,378,957	A685S	probably damaging	Het
Prss53	T	C	7: 127,886,552	T539A	probably benign	Het
Rnf43	T	A	11: 87,731,806	S537T	possibly damaging	Het
Rpgrip1l	G	A	8: 91,270,461	T597I	possibly damaging	Het
Rtn4	C	A	11: 29,707,291	Q482K	probably damaging	Het
Sh3gl1	A	C	17: 56,019,325	S108A	possibly damaging	Het
Tmc7	A	T	7: 118,547,315		probably null	Het
Tmem131	G	A	1: 36,815,483	T131I	probably damaging	Het
Vac14	T	C	8: 110,671,168	L505P	probably benign	Het
Wasf2	A	G	4: 133,192,128	Q231R	unknown	Het
Wnt7a	A	G	6: 91,365,857	C348R	probably damaging	Het
Zkscan6	T	A	11: 65,814,721	L86Q	probably damaging	Het

Other mutations in Sema3g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Sema3g	APN	14	31221727	missense	probably damaging	1.00
IGL01650:Sema3g	APN	14	31221787	missense	probably benign	0.00
IGL01782:Sema3g	APN	14	31227791	missense	probably damaging	1.00
IGL01869:Sema3g	APN	14	31223667	missense	probably damaging	1.00
IGL01999:Sema3g	APN	14	31217965	missense	probably benign
IGL02095:Sema3g	APN	14	31227824	missense	probably benign	0.00
IGL02232:Sema3g	APN	14	31221224	missense	probably damaging	1.00
IGL02477:Sema3g	APN	14	31227866	missense	probably damaging	0.98
IGL02583:Sema3g	APN	14	31221519	critical splice acceptor site	probably null
R0791:Sema3g	UTSW	14	31220904	splice site	probably benign
R1225:Sema3g	UTSW	14	31220679	missense	probably damaging	1.00
R1471:Sema3g	UTSW	14	31228045	missense	probably damaging	1.00
R2303:Sema3g	UTSW	14	31222615	missense	probably damaging	1.00
R3968:Sema3g	UTSW	14	31226521	critical splice donor site	probably null
R3970:Sema3g	UTSW	14	31226521	critical splice donor site	probably null
R4406:Sema3g	UTSW	14	31228159	missense	probably benign	0.01
R4773:Sema3g	UTSW	14	31220709	missense	probably benign	0.04
R7968:Sema3g	UTSW	14	31220648	missense	probably damaging	0.99
R8179:Sema3g	UTSW	14	31220585	missense	probably benign	0.00
R9606:Sema3g	UTSW	14	31221826	missense	probably damaging	1.00
RF021:Sema3g	UTSW	14	31227841	missense	probably damaging	1.00
X0013:Sema3g	UTSW	14	31222111	missense	probably benign	0.02
Z1177:Sema3g	UTSW	14	31226397	missense	probably benign	0.26

Posted On

2014-02-04