Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02049:Sema3c'

185053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema3c

Ensembl Gene

ENSMUSG00000028780

Gene Name

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

Synonyms

1110036B02Rik, Semae

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02049

Quality Score

Status

Chromosome

Chromosomal Location

17574281-17730268 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 17721925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030568]

AlphaFold

Q62181

Predicted Effect

probably benign
Transcript: ENSMUST00000030568

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Sema	54	495	1.16e-200	SMART
PSI	513	565	2.87e-13	SMART
IG	577	662	7.08e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115271

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutation exhibit perinatal lethality, hypopigmentation and abnormal heart development. Mice homozygous for a knock-out allele exhibit prenatal lethality associated with heart defects. [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
4930568D16Rik	T	A	2: 35,364,789	R27S	probably benign	Het
4930596D02Rik	C	A	14: 35,811,578	V78L	probably benign	Het
Abca3	T	A	17: 24,376,730	C352*	probably null	Het
Acat3	T	A	17: 12,925,320	Y324F	probably benign	Het
Adamts8	T	C	9: 30,951,354	V285A	probably damaging	Het
Anpep	A	G	7: 79,835,181	I652T	probably damaging	Het
Arhgef6	T	A	X: 57,275,911	Q320L	probably damaging	Het
Armh1	A	T	4: 117,237,663	I60K	probably benign	Het
Atp11b	T	C	3: 35,800,493	V145A	probably damaging	Het
Cacna1c	T	C	6: 118,603,919	T1674A	probably benign	Het
Capn2	A	T	1: 182,473,954		probably benign	Het
Cfd	A	G	10: 79,890,942	Y6C	probably benign	Het
Cps1	A	G	1: 67,143,954	K157R	possibly damaging	Het
Csmd3	T	A	15: 48,001,474	R786S	possibly damaging	Het
Dna2	A	T	10: 62,957,036	I277L	probably damaging	Het
Gm5168	A	T	X: 26,043,705	D50E	probably damaging	Het
Grik4	T	A	9: 42,543,753		probably benign	Het
Iqgap2	A	G	13: 95,675,405		probably benign	Het
Klk10	A	T	7: 43,784,458		probably benign	Het
Kng1	A	G	16: 23,073,437	Y250C	probably damaging	Het
Las1l	A	T	X: 95,937,453	M690K	probably benign	Het
Mug1	T	A	6: 121,871,336	M673K	probably benign	Het
Myh9	T	C	15: 77,769,870	H1245R	probably benign	Het
Oprk1	C	T	1: 5,598,844	T171I	probably damaging	Het
Pgm5	A	T	19: 24,824,418	S149T	probably benign	Het
Pla2g4a	T	C	1: 149,861,096	N424S	probably benign	Het
Plec	A	T	15: 76,178,949	L2334Q	probably damaging	Het
Pus7l	G	A	15: 94,540,178	S262F	probably damaging	Het
Rps24	C	A	14: 24,491,755	D3E	probably benign	Het
Rxfp1	T	C	3: 79,650,492	N560D	probably damaging	Het
Slc47a2	A	G	11: 61,342,539	F55S	probably damaging	Het
Slco1a6	A	G	6: 142,101,583		probably benign	Het
Taf4b	A	T	18: 14,830,139	E645D	probably benign	Het
Tmem161a	T	A	8: 70,178,974	V158E	probably damaging	Het
Trav13-2	A	G	14: 53,635,147	S27G	possibly damaging	Het
Trav13-2	A	T	14: 53,635,145	Q26L	possibly damaging	Het
Trav13-2	G	T	14: 53,635,146	Q26H	probably damaging	Het
Ttc26	A	G	6: 38,425,132	T520A	probably benign	Het
Vmn2r108	T	A	17: 20,471,346	H305L	probably benign	Het
Zfp263	A	G	16: 3,744,618	I82V	probably damaging	Het

Other mutations in Sema3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Sema3c	APN	5	17694860	missense	probably damaging	1.00
IGL01528:Sema3c	APN	5	17714415	missense	probably benign
IGL01618:Sema3c	APN	5	17672506	missense	probably damaging	1.00
IGL01730:Sema3c	APN	5	17711436	missense	probably benign	0.01
IGL01762:Sema3c	APN	5	17694851	missense	possibly damaging	0.81
IGL02249:Sema3c	APN	5	17662963	missense	probably damaging	1.00
IGL02657:Sema3c	APN	5	17576868	start codon destroyed	possibly damaging	0.71
IGL02657:Sema3c	APN	5	17662974	missense	probably damaging	1.00
IGL03213:Sema3c	APN	5	17694639	splice site	probably benign
PIT4651001:Sema3c	UTSW	5	17694733	missense	probably benign	0.37
R0031:Sema3c	UTSW	5	17694728	missense	probably damaging	1.00
R0558:Sema3c	UTSW	5	17714415	missense	probably benign	0.00
R0964:Sema3c	UTSW	5	17721909	missense	probably damaging	1.00
R1164:Sema3c	UTSW	5	17678314	missense	probably benign	0.40
R1351:Sema3c	UTSW	5	17678336	missense	possibly damaging	0.60
R1368:Sema3c	UTSW	5	17678332	missense	possibly damaging	0.96
R1480:Sema3c	UTSW	5	17682031	missense	possibly damaging	0.57
R1880:Sema3c	UTSW	5	17727466	nonsense	probably null
R1916:Sema3c	UTSW	5	17727401	missense	probably benign	0.06
R3934:Sema3c	UTSW	5	17681940	missense	probably damaging	0.97
R4284:Sema3c	UTSW	5	17678347	missense	probably benign	0.01
R4449:Sema3c	UTSW	5	17576846	start gained	probably benign
R4545:Sema3c	UTSW	5	17694772	missense	probably benign	0.01
R4546:Sema3c	UTSW	5	17694772	missense	probably benign	0.01
R4660:Sema3c	UTSW	5	17672513	missense	probably damaging	1.00
R4890:Sema3c	UTSW	5	17675159	missense	probably benign	0.00
R4937:Sema3c	UTSW	5	17694686	missense	probably benign	0.01
R5065:Sema3c	UTSW	5	17727617	missense	possibly damaging	0.89
R5145:Sema3c	UTSW	5	17727617	missense	possibly damaging	0.89
R5452:Sema3c	UTSW	5	17717070	critical splice donor site	probably null
R5586:Sema3c	UTSW	5	17711424	missense	probably damaging	0.99
R5811:Sema3c	UTSW	5	17675190	splice site	probably null
R5886:Sema3c	UTSW	5	17681986	missense	possibly damaging	0.90
R6120:Sema3c	UTSW	5	17727632	missense	probably benign	0.00
R6191:Sema3c	UTSW	5	17653806	missense	probably damaging	1.00
R6318:Sema3c	UTSW	5	17672432	missense	probably damaging	0.96
R6416:Sema3c	UTSW	5	17576961	missense	probably damaging	0.99
R6441:Sema3c	UTSW	5	17724132	missense	possibly damaging	0.96
R6816:Sema3c	UTSW	5	17670465	missense	probably benign	0.36
R7146:Sema3c	UTSW	5	17694703	missense	probably benign	0.22
R7526:Sema3c	UTSW	5	17727596	missense	possibly damaging	0.46
R7832:Sema3c	UTSW	5	17694847	missense	probably damaging	0.99
R8034:Sema3c	UTSW	5	17727482	missense	probably damaging	1.00
R8053:Sema3c	UTSW	5	17655022	missense	probably benign	0.00
R8076:Sema3c	UTSW	5	17727364	missense	probably benign	0.00
R8264:Sema3c	UTSW	5	17676539	intron	probably benign
R8359:Sema3c	UTSW	5	17653728	missense	possibly damaging	0.56
R8437:Sema3c	UTSW	5	17662938	missense	probably damaging	0.99
R9174:Sema3c	UTSW	5	17663041	critical splice donor site	probably null
R9295:Sema3c	UTSW	5	17727497	missense	probably benign	0.09
R9477:Sema3c	UTSW	5	17716983	missense
R9599:Sema3c	UTSW	5	17714454	critical splice donor site	probably null
R9702:Sema3c	UTSW	5	17653830	missense	probably damaging	1.00
Z1176:Sema3c	UTSW	5	17727519	missense	probably benign	0.04
Z1177:Sema3c	UTSW	5	17717031	missense	probably damaging	1.00

Posted On

2014-05-07