Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01782:Sema3g'

153945

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 #

IGL01782

Quality Score

Status

Chromosome

Chromosomal Location

30939830-30952309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30949748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 643 (R643L)

Ref Sequence

ENSEMBL: ENSMUSP00000087643 (fasta)

Gene Model

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

AlphaFold

Q4LFA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000090180
AA Change: R643L

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

SMART Domains

Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: R643L

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	C	9: 63,523,995 (GRCm39)	V34A	probably benign	Het
Acacb	G	T	5: 114,338,581 (GRCm39)	G764W	probably damaging	Het
Adam34l	T	A	8: 44,079,772 (GRCm39)	T151S	probably benign	Het
Ankib1	A	G	5: 3,777,607 (GRCm39)	C428R	probably damaging	Het
Card11	A	G	5: 140,913,481 (GRCm39)	M1T	probably null	Het
Ccdc62	T	A	5: 124,092,639 (GRCm39)	N541K	possibly damaging	Het
Cep290	C	T	10: 100,380,987 (GRCm39)	Q1742*	probably null	Het
Cyp2c23	T	C	19: 44,017,554 (GRCm39)	T25A	possibly damaging	Het
Dtx2	C	A	5: 136,038,981 (GRCm39)	Y13*	probably null	Het
Dync1h1	T	C	12: 110,581,374 (GRCm39)	I273T	probably damaging	Het
Etfb	A	G	7: 43,103,966 (GRCm39)	T134A	probably damaging	Het
Fig4	A	C	10: 41,146,396 (GRCm39)	L182R	probably benign	Het
Gm10220	A	T	5: 26,322,021 (GRCm39)	L217Q	probably damaging	Het
Gm4871	T	G	5: 144,967,170 (GRCm39)		probably benign	Het
Gm5464	T	C	14: 67,106,837 (GRCm39)		probably benign	Het
Lurap1	A	G	4: 116,001,700 (GRCm39)		probably benign	Het
Mmp17	T	A	5: 129,679,205 (GRCm39)	V368E	probably damaging	Het
Mrpl22	T	A	11: 58,062,670 (GRCm39)		probably null	Het
Nisch	G	A	14: 30,898,596 (GRCm39)		probably benign	Het
Odf4	A	T	11: 68,817,459 (GRCm39)	H76Q	probably damaging	Het
Or2t48	T	A	11: 58,419,985 (GRCm39)	M276L	probably benign	Het
Or6c207	C	T	10: 129,104,908 (GRCm39)	V95I	probably benign	Het
Orc1	T	C	4: 108,463,465 (GRCm39)	S661P	possibly damaging	Het
Otud4	T	G	8: 80,399,640 (GRCm39)	F784V	possibly damaging	Het
Prkch	A	G	12: 73,806,436 (GRCm39)	D561G	probably damaging	Het
Pttg1ip	T	C	10: 77,417,763 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,314,131 (GRCm39)	K1617R	probably damaging	Het
Rarb	T	G	14: 16,434,180 (GRCm38)	S333R	probably damaging	Het
Rps6ka2	A	G	17: 7,503,523 (GRCm39)	K99E	probably benign	Het
Sel1l2	A	T	2: 140,085,855 (GRCm39)	W542R	probably damaging	Het
Sltm	T	A	9: 70,480,923 (GRCm39)	D258E	probably damaging	Het
Stx18	G	A	5: 38,263,955 (GRCm39)	V80I	possibly damaging	Het
Taar2	A	T	10: 23,817,042 (GRCm39)	N194I	probably damaging	Het
Ube2r2	T	C	4: 41,174,129 (GRCm39)		probably null	Het
Unk	C	A	11: 115,949,205 (GRCm39)	N645K	probably benign	Het
Vmn1r73	A	G	7: 11,490,665 (GRCm39)	K161R	probably benign	Het
Vps13a	T	C	19: 16,731,701 (GRCm39)	D137G	probably damaging	Het
Xrra1	A	G	7: 99,524,401 (GRCm39)	T104A	possibly damaging	Het
Zfp410	T	A	12: 84,374,048 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,992,476 (GRCm39)	T45A	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
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
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

2014-02-04