Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Sema3c'

456084

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

044088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5886 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

17574281-17730268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17681986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 345 (I345T)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030568
AA Change: I345T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: I345T

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: ENSMUST00000170181

Meta Mutation Damage Score

0.2016

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	A	G	11: 103,208,121		probably null	Het
9930021J03Rik	T	C	19: 29,719,277	I939V	probably benign	Het
Acap1	A	G	11: 69,884,336	V367A	probably benign	Het
Adam26b	T	C	8: 43,520,273	E564G	possibly damaging	Het
Akap1	A	G	11: 88,834,660		probably null	Het
Akap2	T	A	4: 57,856,295	D582E	probably damaging	Het
Akap5	T	A	12: 76,327,845	V10E	possibly damaging	Het
Atad2	A	T	15: 58,098,514	L887*	probably null	Het
C1qbp	A	G	11: 70,982,182	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,615,656	G92D	probably damaging	Het
Cacna1a	T	C	8: 84,523,022	I219T	probably damaging	Het
Capn12	A	G	7: 28,887,605	N333S	probably benign	Het
Ccdc154	C	T	17: 25,171,818	T644I	probably benign	Het
Cd200r1	T	C	16: 44,790,203	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,571,672		probably null	Het
Coq4	A	T	2: 29,790,614		probably benign	Het
Cubn	A	T	2: 13,320,023		probably benign	Het
Cyp4f17	A	T	17: 32,524,039	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,802,836	A200E	probably benign	Het
Dnah8	C	T	17: 30,794,717	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,303,810	S276T	possibly damaging	Het
Efhb	T	C	17: 53,451,554	I351M	probably benign	Het
Fat1	G	A	8: 45,027,681		probably null	Het
Fat1	A	T	8: 45,033,395	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm29376	A	G	1: 134,520,199		noncoding transcript	Het
Gm973	T	A	1: 59,558,250		probably benign	Het
Gpr156	T	A	16: 37,979,013	L124Q	probably damaging	Het
Hars2	T	A	18: 36,790,097		probably benign	Het
Hcrt	G	A	11: 100,761,933	A85V	probably damaging	Het
Hivep1	A	G	13: 42,156,612	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,660,183	S200T	probably damaging	Het
Krt40	C	T	11: 99,540,081	A201T	probably benign	Het
Lca5	G	A	9: 83,399,681	A350V	probably benign	Het
Lrig2	T	A	3: 104,462,698	M515L	probably benign	Het
Mbd5	A	G	2: 49,272,452	D90G	probably damaging	Het
Mfsd4a	C	T	1: 132,067,727	V56I	probably damaging	Het
Mpi	A	G	9: 57,548,462		probably benign	Het
Mroh4	G	T	15: 74,606,447	D935E	possibly damaging	Het
Mtg1	G	T	7: 140,149,865		probably null	Het
Nanos1	T	A	19: 60,756,830	C189S	probably damaging	Het
Naprt	A	C	15: 75,891,475		probably null	Het
Nubpl	T	A	12: 52,181,309		probably null	Het
Olfr1016	A	G	2: 85,799,803	S156P	probably damaging	Het
Olfr286	T	C	15: 98,226,791	T285A	possibly damaging	Het
Olfr937	T	A	9: 39,060,382	T95S	probably benign	Het
Olfr963	G	T	9: 39,669,956	V300L	probably benign	Het
Otud4	T	A	8: 79,672,807	Y717N	probably damaging	Het
Pnpla1	T	C	17: 28,876,863	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,467,576	W184*	probably null	Het
Rtp3	A	G	9: 110,987,136	S116P	probably damaging	Het
Skor2	T	C	18: 76,859,429	L282P	unknown	Het
Slc24a4	T	C	12: 102,260,415	V468A	probably damaging	Het
Slfn8	C	T	11: 83,003,334	M826I	probably benign	Het
Tacc2	A	G	7: 130,729,120	D378G	probably benign	Het
Thbs3	C	A	3: 89,220,163	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,817,122		probably benign	Het
Tm7sf2	A	G	19: 6,066,542		probably benign	Het
Trappc8	T	C	18: 20,874,680	Y126C	probably damaging	Het
Trim35	C	G	14: 66,304,053	L209V	possibly damaging	Het
Trim35	T	C	14: 66,304,054	L209P	probably damaging	Het
Trip12	C	T	1: 84,730,458		probably benign	Het
Trp53bp1	A	G	2: 121,205,021	V1583A	probably damaging	Het
Tubgcp6	A	T	15: 89,103,247	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,561,842	D969N	probably benign	Het
Vldlr	C	A	19: 27,243,771	S612R	probably benign	Het
Vps13a	T	C	19: 16,664,562	T2234A	probably benign	Het
Vps39	A	G	2: 120,321,572		probably benign	Het
Zdhhc3	A	T	9: 123,091,081	C120S	probably benign	Het
Zfp37	A	G	4: 62,191,234	F531S	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
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

PCR Primer
(F):5'- TCACAGGCTTCTTTATTTTGTGAT -3'
(R):5'- CCCGGGTCTCAGCACCAA -3'

Sequencing Primer
(F):5'- CATAACATGTGGAAGGTGGCTTC -3'
(R):5'- CGCAGCACTCAAGATGTTTG -3'

Posted On

2017-02-15