Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Sema3c'

214850

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

039934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1916 (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 17727401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 634 (Q634R)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

probably benign
Transcript: ENSMUST00000030568
AA Change: Q634R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: Q634R

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

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,768,475	T588A	probably damaging	Het
Abca13	G	T	11: 9,534,456	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,688,530		probably null	Het
Acaa1b	A	G	9: 119,156,662	L65P	probably damaging	Het
Adam6a	G	T	12: 113,545,936	R643L	probably benign	Het
Agbl2	A	T	2: 90,815,441	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,911,461	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,260,141	N1406Y	probably damaging	Het
Bbx	G	T	16: 50,266,245	S96Y	probably damaging	Het
Casc1	A	C	6: 145,176,200	V631G	probably benign	Het
Cdh12	T	A	15: 21,520,250		probably null	Het
Cdh9	A	C	15: 16,823,275	R114S	probably benign	Het
Cenpo	T	G	12: 4,216,683	I142L	probably benign	Het
Cfap69	T	C	5: 5,663,970	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,389,936	D221V	probably benign	Het
Cstf3	T	A	2: 104,655,756	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,905,475	C566S	probably benign	Het
Dgkh	A	G	14: 78,595,223	M798T	probably damaging	Het
Dnaic2	T	C	11: 114,732,923	V4A	possibly damaging	Het
Dnmbp	T	G	19: 43,901,568	I587L	possibly damaging	Het
Dock6	A	T	9: 21,813,091	M301K	probably damaging	Het
Dock8	T	C	19: 25,061,157	M69T	probably benign	Het
Ears2	T	C	7: 122,044,578	S386G	probably benign	Het
Ecsit	T	C	9: 22,072,521	I371V	probably benign	Het
Eif4a3	T	C	11: 119,293,911	I216V	probably benign	Het
Emp1	A	G	6: 135,380,130	I69V	probably damaging	Het
Epg5	A	G	18: 77,965,021	D788G	probably benign	Het
Eps15	A	G	4: 109,368,974	K324E	probably damaging	Het
Extl3	A	G	14: 65,077,622	F37S	probably benign	Het
Fam83g	A	G	11: 61,695,168	D194G	probably damaging	Het
Gcc2	A	G	10: 58,276,663	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,692,009	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,889,638	V420E	probably damaging	Het
Gm16503	A	G	4: 147,541,210	R54G	unknown	Het
Gm5538	A	G	3: 59,745,503	K121R	possibly damaging	Het
Grasp	T	C	15: 101,226,969		probably benign	Het
Grin3b	T	C	10: 79,974,598	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,584	D644G	probably benign	Het
Gtf2i	C	A	5: 134,246,848	V660F	probably damaging	Het
Heatr4	G	T	12: 83,955,817	Q808K	probably benign	Het
Hif3a	T	C	7: 17,039,656	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,099,801	V328M	probably damaging	Het
Jph1	T	C	1: 17,092,055	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,900,469	V481A	probably damaging	Het
Khk	A	G	5: 30,930,618	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,546,632	Q219L	probably benign	Het
Lipf	T	A	19: 33,965,675	Y128N	probably benign	Het
Lipg	A	G	18: 74,960,937	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,235,202	S476P	probably benign	Het
Map2k7	T	G	8: 4,245,795	V425G	probably benign	Het
Mycbp2	A	T	14: 103,184,883	S2451R	probably damaging	Het
Mylk3	A	G	8: 85,327,192	S629P	probably damaging	Het
Nrp2	A	T	1: 62,762,747	I450F	probably damaging	Het
Olfr1261	T	C	2: 89,993,804	V137A	probably benign	Het
Olfr150	A	G	9: 39,737,622	D269G	probably benign	Het
Osbpl11	T	C	16: 33,185,843	S14P	probably benign	Het
Osbpl11	T	A	16: 33,210,095	V231D	possibly damaging	Het
Parg	T	A	14: 32,208,227		probably benign	Het
Pax9	G	T	12: 56,697,138	R190L	possibly damaging	Het
Prss12	G	A	3: 123,506,495	V752I	probably benign	Het
Pstpip2	A	G	18: 77,835,192	N34S	probably damaging	Het
Rarg	T	C	15: 102,252,445	D53G	probably benign	Het
Rbak	T	C	5: 143,176,116	K53R	probably damaging	Het
Scgn	A	T	13: 23,978,825	S107R	probably damaging	Het
Serpinh1	A	G	7: 99,349,081	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,303,923		probably benign	Het
Sned1	A	T	1: 93,274,162	I617F	probably null	Het
Spata31	C	T	13: 64,922,545	R836*	probably null	Het
Spen	A	G	4: 141,472,598	L2883P	probably damaging	Het
Stmn3	A	T	2: 181,307,280	M140K	possibly damaging	Het
Syn3	A	G	10: 86,354,344		probably null	Het
Tor4a	A	G	2: 25,195,402	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,460,398	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,381,759		probably benign	Het
Unc5b	G	A	10: 60,778,248	T274I	probably damaging	Het
Upk1b	C	A	16: 38,776,186		probably null	Het
Usp18	A	G	6: 121,268,554	I296M	probably benign	Het
Usp42	A	G	5: 143,715,056	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,418,525	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,844,967	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,803,226	F136L	probably damaging	Het
Vopp1	C	T	6: 57,754,587	V140I	probably benign	Het
Wdhd1	T	C	14: 47,258,577	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,912,417	D142E	probably benign	Het
Whrn	A	G	4: 63,494,732	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,343,348	V216A	probably benign	Het
Zmym2	C	T	14: 56,959,842	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,272,283	L44Q	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
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'- GTACATGTGCAGTGGATCTAACC -3'
(R):5'- CCAGGATGTCCTTTGGATGG -3'

Sequencing Primer
(F):5'- GTGCAGTGGATCTAACCATAATGC -3'
(R):5'- CCTTTGGATGGAAGGGTAGAGCC -3'

Posted On

2014-07-14