Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Sema3c'

100806

Institutional Source

Beutler Lab

Gene Symbol

Sema3c

Ensembl Gene

ENSMUSG00000028780

Gene Name

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

Synonyms

1110036B02Rik, Semae

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17574281-17730268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17678314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 307 (D307N)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030568] [ENSMUST00000169603] [ENSMUST00000170181]

AlphaFold

Q62181

Predicted Effect

probably benign
Transcript: ENSMUST00000030568
AA Change: D307N

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: D307N

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

probably benign
Transcript: ENSMUST00000169603

SMART Domains

Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Sema	54	226	9.6e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170181

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,331	M1055K	probably damaging	Het
Adprh	A	T	16: 38,450,340	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,617,946	M80L	probably benign	Het
Arap2	T	A	5: 62,683,477	D682V	probably damaging	Het
Atp4a	T	A	7: 30,717,692	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,308,316	E10G	probably damaging	Het
B4galt2	G	A	4: 117,876,944	R299W	possibly damaging	Het
Brinp1	A	C	4: 68,798,691	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,361,876		probably null	Het
Ccdc3	T	C	2: 5,141,266	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 50,792,137	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,962,688	W191R	probably damaging	Het
Chga	A	G	12: 102,563,045	E427G	probably damaging	Het
Chrnd	A	T	1: 87,192,545	Y32F	probably benign	Het
Cks1b	C	A	3: 89,415,942		probably benign	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dip2a	C	A	10: 76,276,397	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,918,258	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,677,993	M319V	possibly damaging	Het
Dock8	A	G	19: 25,090,027	Y345C	probably benign	Het
Dpp6	A	G	5: 27,721,105	T668A	probably benign	Het
Eef1d	A	G	15: 75,902,677		probably null	Het
Epb41l3	A	G	17: 69,274,767	T568A	possibly damaging	Het
Erc2	A	G	14: 28,302,972	R603G	probably damaging	Het
Fam83d	T	C	2: 158,783,250	S254P	probably damaging	Het
Fcgr4	A	T	1: 171,029,170	H202L	possibly damaging	Het
Gm38394	G	A	1: 133,659,203	T132I	probably damaging	Het
Gm4922	C	T	10: 18,783,721	A418T	possibly damaging	Het
Kmo	A	G	1: 175,658,559	H416R	probably benign	Het
Lao1	A	G	4: 118,965,405	N174S	probably benign	Het
Lrwd1	A	T	5: 136,130,990	H406Q	probably benign	Het
Magoh	A	G	4: 107,887,262	I143V	probably benign	Het
Mpz	A	G	1: 171,158,439	H49R	possibly damaging	Het
Nav1	T	C	1: 135,472,410	N474S	probably benign	Het
Ndufb10	T	G	17: 24,722,783	E68D	probably benign	Het
Obscn	T	C	11: 59,036,087	D5534G	possibly damaging	Het
Olfr1076	C	A	2: 86,508,684	T75K	probably damaging	Het
Olfr126	T	A	17: 37,850,684	F31I	probably damaging	Het
Olfr1425	A	T	19: 12,074,241	Y130*	probably null	Het
Olfr159	T	C	4: 43,770,991	T7A	probably benign	Het
Olfr345	A	T	2: 36,640,120	Y27F	probably benign	Het
Olfr685	A	T	7: 105,180,833	F160Y	probably benign	Het
Padi1	A	T	4: 140,832,329	V79E	possibly damaging	Het
Pdha2	A	G	3: 141,211,499	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,574,715	I42T	probably damaging	Het
Pot1b	A	C	17: 55,674,085	S310A	probably benign	Het
Ptpn13	G	A	5: 103,489,773	V176I	probably damaging	Het
Ptprf	A	G	4: 118,257,492	S189P	probably damaging	Het
Rere	A	T	4: 150,534,884	Q381L	unknown	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Scn8a	G	A	15: 101,040,162	C1804Y	probably benign	Het
Siah2	T	C	3: 58,676,316	E183G	probably benign	Het
Smarca5	G	A	8: 80,710,631	L699F	probably damaging	Het
Smo	T	A	6: 29,754,719	S263T	probably benign	Het
Sox2	A	G	3: 34,650,699	E95G	probably damaging	Het
T	T	C	17: 8,439,939	S171P	probably benign	Het
Tmc7	G	T	7: 118,542,024	A628D	probably benign	Het
Tmem45a2	A	G	16: 57,049,426	S52P	probably damaging	Het
Tubb3	C	T	8: 123,421,447	A373V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,895,380		probably null	Het
Upp2	A	G	2: 58,763,704	Y69C	probably damaging	Het
Utp4	A	G	8: 106,900,844		probably null	Het
Vmn1r59	T	A	7: 5,454,411	M117L	probably benign	Het
Xkr8	T	C	4: 132,732,411	S19G	probably benign	Het
Zbtb24	T	C	10: 41,464,527	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,971,624	I580T	probably benign	Het
Zfp995	G	A	17: 21,879,979	H425Y	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
IGL02049:Sema3c	APN	5	17721925	splice site	probably benign
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
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

Predicted Primers

Posted On

2014-01-15