Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Sema3c'

155869

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

039433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17574281-17730268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17678332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 313 (T313A)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030568
AA Change: T313A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: T313A

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

Meta Mutation Damage Score

0.1088

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,159,478	Q2341R	possibly damaging	Het
9930021J03Rik	C	A	19: 29,716,396	S1966I	probably damaging	Het
Abca13	A	G	11: 9,291,836	D1233G	probably benign	Het
Abcc8	G	A	7: 46,122,860	R832W	probably damaging	Het
Atp10b	A	G	11: 43,202,154	T439A	probably damaging	Het
C130073F10Rik	T	A	4: 101,890,756	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,491,312	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,482		probably benign	Het
Cep290	C	T	10: 100,494,966		probably benign	Het
Chrng	T	A	1: 87,205,853	L10H	probably damaging	Het
Cnn3	T	C	3: 121,457,137	L189S	probably benign	Het
Cog4	A	G	8: 110,858,525		probably benign	Het
Cxcl12	A	G	6: 117,176,150		probably benign	Het
Eif2b2	G	A	12: 85,223,456	A257T	probably damaging	Het
Fam189a1	A	T	7: 64,819,877	V41E	probably damaging	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Fktn	G	A	4: 53,734,880	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464	N841S	probably benign	Het
Gm5622	T	A	14: 51,662,190	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,378,287	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,260,665	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,157,806	T74I	probably benign	Het
Ikzf2	G	A	1: 69,539,315	A271V	possibly damaging	Het
Lig4	T	C	8: 9,971,176	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,708,605	E367G	possibly damaging	Het
Mpz	T	C	1: 171,159,964	L223P	probably damaging	Het
Muc3	T	C	5: 137,146,826		probably benign	Het
Olfr38	C	A	6: 42,762,679	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,526,584	N104K	probably damaging	Het
Pigg	G	T	5: 108,317,288	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,245,862	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Psg23	A	G	7: 18,614,720	V54A	probably benign	Het
Psmd3	A	G	11: 98,682,920	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,646,025		probably null	Het
Ptgdr	T	A	14: 44,853,342	I320F	probably damaging	Het
Rad50	T	A	11: 53,683,245	K722*	probably null	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rgs9	G	A	11: 109,248,151	S255L	probably benign	Het
Ror1	C	T	4: 100,441,137	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,447,148		probably null	Het
Scn8a	A	G	15: 101,035,541	D1501G	probably damaging	Het
Serpinc1	T	A	1: 160,993,524	F59L	probably damaging	Het
Sike1	A	G	3: 102,996,184	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,645,526		probably null	Het
Slc32a1	A	G	2: 158,611,320	M27V	probably benign	Het
Smc5	A	G	19: 23,210,443	V1003A	probably damaging	Het
Tll2	G	A	19: 41,120,228	R328C	probably damaging	Het
Topaz1	A	G	9: 122,748,250	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,147,499	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,107,636	I232T	probably benign	Het
Unc79	A	G	12: 103,156,513	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,404,671	F70L	probably benign	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
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

PCR Primer
(F):5'- TTGTATTGATCTCCAGAAGCAGCATCC -3'
(R):5'- CTTGTGCTACCACTGCCAAAATTCAG -3'

Sequencing Primer
(F):5'- GAAGCAGCATCCTGAGGACTC -3'
(R):5'- TGCCAAAATTCAGAAAAGAAACAG -3'

Posted On

2014-02-11