Mutagenetix > Incidental Mutation

Incidental Mutation 'R8053:Sema3c'

619176

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17574281-17730268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17655022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 95 (T95I)

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: T95I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: T95I

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
AA Change: T95I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: T95I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,190,531	K574*	probably null	Het
5730507C01Rik	C	T	12: 18,533,727	R263*	probably null	Het
Abca12	G	A	1: 71,349,169	R181*	probably null	Het
Adar	T	C	3: 89,747,285	L908P	probably damaging	Het
Ankrd55	C	T	13: 112,323,153	R94C	probably damaging	Het
Carf	A	T	1: 60,128,038	T177S	probably benign	Het
Ccdc162	C	A	10: 41,644,581	G693V	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Chd4	G	T	6: 125,128,816	E1799*	probably null	Het
Chrna3	T	A	9: 55,015,390	N378I	probably benign	Het
Clec4a2	T	C	6: 123,128,039	V96A	probably benign	Het
Cntnap5b	T	A	1: 100,390,677	L683Q	probably damaging	Het
Crisp4	T	A	1: 18,124,274	Q208L	probably benign	Het
Crocc	A	G	4: 141,042,919		probably null	Het
Cyp2ab1	T	C	16: 20,314,268	E192G	probably benign	Het
Daglb	A	G	5: 143,503,269	K627R	probably benign	Het
Desi2	G	A	1: 178,237,916	W16*	probably null	Het
Dtx3l	T	C	16: 35,938,952		probably benign	Het
Elf2	A	G	3: 51,308,130	V53A	possibly damaging	Het
Eomes	A	G	9: 118,480,553	D325G	probably damaging	Het
Etl4	A	T	2: 20,661,963	L60F	probably damaging	Het
Exoc4	A	G	6: 33,332,256	D271G	probably benign	Het
F5	A	G	1: 164,192,769	I938V	probably benign	Het
Fam49b	T	C	15: 63,941,983	D155G	probably damaging	Het
Fdxr	T	A	11: 115,269,839	K290M	probably benign	Het
Fgd5	G	A	6: 91,989,444	S886N	probably benign	Het
Gm11595	G	A	11: 99,772,128	S242F	unknown	Het
Gm14322	A	T	2: 177,769,631	Q78L	probably damaging	Het
Gm8267	A	T	14: 44,724,850	S38T	possibly damaging	Het
Gm884	T	A	11: 103,604,566	K2809I	unknown	Het
Gpr75	A	T	11: 30,891,559	T155S	probably benign	Het
Hectd3	T	C	4: 117,000,858	S628P	possibly damaging	Het
Hrh2	A	G	13: 54,214,085	T27A	probably benign	Het
Kif16b	G	A	2: 142,853,714	R157C	probably damaging	Het
Krt16	T	C	11: 100,246,787	Y364C	probably damaging	Het
Map2k5	T	A	9: 63,343,425	N95I	probably benign	Het
Melk	A	G	4: 44,318,109	Y170C	probably damaging	Het
Mthfd1	T	A	12: 76,280,508	D123E	probably damaging	Het
Muc2	A	T	7: 141,698,332	Y827F	probably benign	Het
Myh15	T	A	16: 49,142,939	M1081K	possibly damaging	Het
Nbeal1	A	G	1: 60,279,795	T1998A	probably damaging	Het
Neb	T	A	2: 52,286,017	T1477S	possibly damaging	Het
Nox4	C	A	7: 87,370,047	P416Q	probably damaging	Het
Olfr1000	T	C	2: 85,608,890	T7A	probably damaging	Het
Olfr1230	A	T	2: 89,297,196	F25I	possibly damaging	Het
Olfr1328	A	G	4: 118,934,111	S246P	probably damaging	Het
Olfr137	A	T	17: 38,305,210	F84I	probably benign	Het
Olfr391-ps	T	C	11: 73,798,996	T254A	probably benign	Het
Pcdhga4	A	G	18: 37,686,255	K286E	probably benign	Het
Pde10a	A	G	17: 8,974,772	T679A	probably benign	Het
Phc2	C	T	4: 128,709,640	Q188*	probably null	Het
Pramef8	C	A	4: 143,417,638	Q185K	probably benign	Het
Prdm15	A	G	16: 97,835,607	M170T	probably benign	Het
Rab20	G	T	8: 11,454,443	Q86K	probably damaging	Het
Rev1	T	C	1: 38,063,141	I714V	possibly damaging	Het
Rexo2	A	G	9: 48,475,118		probably null	Het
Rnf213	A	G	11: 119,402,647	K75E		Het
Sdk2	C	T	11: 113,854,351	R706Q	probably damaging	Het
Sh3rf2	T	A	18: 42,153,022	S527T	probably damaging	Het
Sis	A	T	3: 72,949,568	Y434*	probably null	Het
Slc16a6	G	A	11: 109,458,569	T222I	probably damaging	Het
Smad6	A	G	9: 64,020,507	L173P	probably damaging	Het
Sugct	T	A	13: 17,301,969	N310I	probably damaging	Het
Syne1	T	A	10: 5,052,658	K259*	probably null	Het
Taar6	A	G	10: 23,985,246	V134A	possibly damaging	Het
Tmem199	A	G	11: 78,507,786	I184T	possibly damaging	Het
Tnrc18	G	T	5: 142,750,630	D1530E	unknown	Het
Tnxb	G	A	17: 34,704,179	V2579M	probably damaging	Het
Vangl2	A	G	1: 172,004,736	F518L	probably damaging	Het
Vmn2r40	T	C	7: 8,908,246	T683A		Het
Wapl	C	T	14: 34,692,321	T380I	probably damaging	Het
Zfp874b	A	T	13: 67,474,098	H360Q	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
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
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

PCR Primer
(F):5'- GCAAATGGGCATTGTATTTTGC -3'
(R):5'- CATTAGTCCTGCCAAGGCTC -3'

Sequencing Primer
(F):5'- GGGCATTGTATTTTGCACATTTATC -3'
(R):5'- ACCACTAATCTCAGATTCCAATGTTC -3'

Posted On

2020-01-23