Mutagenetix > Incidental Mutation

Incidental Mutation 'R0558:Sema3c'

45709

Institutional Source

Beutler Lab

Gene Symbol

Sema3c

Ensembl Gene

ENSMUSG00000028780

Gene Name

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

Synonyms

Semae, 1110036B02Rik

MMRRC Submission

038750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0558 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

17779814-17935266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17919413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 483 (H483L)

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

probably benign
Transcript: ENSMUST00000030568
AA Change: H483L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: H483L

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

0.0648

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,789,163 (GRCm39)	G273R	probably benign	Het
Adamts10	T	C	17: 33,769,583 (GRCm39)	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,508,983 (GRCm39)	D90G	probably damaging	Het
Atic	T	A	1: 71,602,947 (GRCm39)	V107E	probably benign	Het
Atp4b	T	C	8: 13,443,523 (GRCm39)	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,483,324 (GRCm39)	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,881,729 (GRCm39)		probably benign	Het
Cd226	T	A	18: 89,225,338 (GRCm39)	H78Q	probably benign	Het
Cers3	A	G	7: 66,433,166 (GRCm39)	D161G	probably damaging	Het
Ces1f	T	C	8: 94,002,017 (GRCm39)	H37R	probably benign	Het
Cfhr4	A	G	1: 139,667,230 (GRCm39)	V376A	probably damaging	Het
Chek1	T	A	9: 36,623,411 (GRCm39)	N421I	possibly damaging	Het
Cibar1	T	C	4: 12,164,095 (GRCm39)	D248G	probably damaging	Het
Cma2	T	C	14: 56,210,249 (GRCm39)	Y45H	probably damaging	Het
Cmas	C	A	6: 142,720,970 (GRCm39)	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,332,871 (GRCm39)	S492T	probably benign	Het
Dnah12	T	C	14: 26,430,465 (GRCm39)	S358P	probably benign	Het
Dnajc13	T	C	9: 104,079,151 (GRCm39)		probably null	Het
Ep400	A	C	5: 110,832,933 (GRCm39)		probably benign	Het
Fam209	T	A	2: 172,314,758 (GRCm39)	N82K	probably benign	Het
G3bp2	A	T	5: 92,221,056 (GRCm39)	Y20N	probably damaging	Het
Gli2	T	C	1: 118,765,379 (GRCm39)	D924G	probably benign	Het
Gm10787	T	C	10: 76,857,850 (GRCm39)		noncoding transcript	Het
Gm11568	A	G	11: 99,748,872 (GRCm39)	R26G	unknown	Het
Hivep3	T	G	4: 119,953,763 (GRCm39)	L693R	probably damaging	Het
Hook1	A	G	4: 95,881,449 (GRCm39)		probably benign	Het
Ibtk	A	C	9: 85,619,591 (GRCm39)	D116E	probably damaging	Het
Insrr	C	T	3: 87,718,288 (GRCm39)	T927I	possibly damaging	Het
Irx1	T	G	13: 72,107,747 (GRCm39)	S312R	probably benign	Het
Itga11	T	C	9: 62,659,570 (GRCm39)	Y441H	probably benign	Het
Itsn1	A	G	16: 91,696,511 (GRCm39)	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,719,489 (GRCm39)	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,402,560 (GRCm39)	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,669,398 (GRCm39)		noncoding transcript	Het
Lars1	T	G	18: 42,347,902 (GRCm39)	I974L	probably benign	Het
Limch1	A	G	5: 67,126,498 (GRCm39)	D42G	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,068,612 (GRCm39)	I393T	probably benign	Het
Mpl	A	C	4: 118,301,217 (GRCm39)	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,321,564 (GRCm39)	S754P	possibly damaging	Het
Or4c125	A	G	2: 89,170,580 (GRCm39)	L22P	probably benign	Het
Or5bw2	T	C	7: 6,573,652 (GRCm39)	Y221H	possibly damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or8g18	T	A	9: 39,149,496 (GRCm39)	T75S	probably damaging	Het
P2rx7	A	T	5: 122,811,861 (GRCm39)	I391F	possibly damaging	Het
Pbrm1	T	A	14: 30,807,016 (GRCm39)		probably null	Het
Pcdh8	T	C	14: 80,007,516 (GRCm39)	D349G	probably damaging	Het
Pias1	A	G	9: 62,789,291 (GRCm39)	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,347,820 (GRCm39)	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,673,797 (GRCm39)	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,762,519 (GRCm39)	S375T	probably benign	Het
Prkar1b	C	T	5: 139,005,847 (GRCm39)	V313M	probably benign	Het
Prr35	T	C	17: 26,166,523 (GRCm39)	N338S	probably benign	Het
Ptpn13	T	C	5: 103,677,583 (GRCm39)	S734P	probably damaging	Het
Rdh1	T	C	10: 127,595,810 (GRCm39)	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,886,156 (GRCm39)	I285L	probably benign	Het
Rubcnl	T	C	14: 75,284,987 (GRCm39)	F502S	probably damaging	Het
Ryr2	T	A	13: 11,653,329 (GRCm39)	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,814,747 (GRCm39)	Y675C	probably damaging	Het
Scaper	T	C	9: 55,593,207 (GRCm39)	T477A	probably benign	Het
Scn2a	G	T	2: 65,542,269 (GRCm39)	V791L	probably benign	Het
Sdk1	A	T	5: 142,117,820 (GRCm39)	T1573S	probably damaging	Het
Sema6c	T	C	3: 95,076,002 (GRCm39)	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,400,177 (GRCm39)	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,123,077 (GRCm39)		probably benign	Het
Slc38a9	A	T	13: 112,865,730 (GRCm39)		probably null	Het
Taok1	A	C	11: 77,450,670 (GRCm39)	S367R	possibly damaging	Het
Tlr6	G	A	5: 65,112,203 (GRCm39)	Q235*	probably null	Het
Top2a	A	G	11: 98,887,665 (GRCm39)	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,511,616 (GRCm39)	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,703,462 (GRCm39)	T288A	probably benign	Het
Ubr4	A	G	4: 139,154,213 (GRCm39)	E2140G	probably benign	Het
Uso1	A	G	5: 92,321,878 (GRCm39)	Q257R	probably benign	Het
Zfp106	A	G	2: 120,362,677 (GRCm39)	V48A	probably damaging	Het
Zfp174	T	A	16: 3,666,118 (GRCm39)	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,629,225 (GRCm39)	D426V	probably benign	Het

Other mutations in Sema3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Sema3c	APN	5	17,899,858 (GRCm39)	missense	probably damaging	1.00
IGL01528:Sema3c	APN	5	17,919,413 (GRCm39)	missense	probably benign
IGL01618:Sema3c	APN	5	17,877,504 (GRCm39)	missense	probably damaging	1.00
IGL01730:Sema3c	APN	5	17,916,434 (GRCm39)	missense	probably benign	0.01
IGL01762:Sema3c	APN	5	17,899,849 (GRCm39)	missense	possibly damaging	0.81
IGL02049:Sema3c	APN	5	17,926,923 (GRCm39)	splice site	probably benign
IGL02249:Sema3c	APN	5	17,867,961 (GRCm39)	missense	probably damaging	1.00
IGL02657:Sema3c	APN	5	17,867,972 (GRCm39)	missense	probably damaging	1.00
IGL02657:Sema3c	APN	5	17,781,866 (GRCm39)	start codon destroyed	possibly damaging	0.71
IGL03213:Sema3c	APN	5	17,899,637 (GRCm39)	splice site	probably benign
PIT4651001:Sema3c	UTSW	5	17,899,731 (GRCm39)	missense	probably benign	0.37
R0031:Sema3c	UTSW	5	17,899,726 (GRCm39)	missense	probably damaging	1.00
R0964:Sema3c	UTSW	5	17,926,907 (GRCm39)	missense	probably damaging	1.00
R1164:Sema3c	UTSW	5	17,883,312 (GRCm39)	missense	probably benign	0.40
R1351:Sema3c	UTSW	5	17,883,334 (GRCm39)	missense	possibly damaging	0.60
R1368:Sema3c	UTSW	5	17,883,330 (GRCm39)	missense	possibly damaging	0.96
R1480:Sema3c	UTSW	5	17,887,029 (GRCm39)	missense	possibly damaging	0.57
R1880:Sema3c	UTSW	5	17,932,464 (GRCm39)	nonsense	probably null
R1916:Sema3c	UTSW	5	17,932,399 (GRCm39)	missense	probably benign	0.06
R3934:Sema3c	UTSW	5	17,886,938 (GRCm39)	missense	probably damaging	0.97
R4284:Sema3c	UTSW	5	17,883,345 (GRCm39)	missense	probably benign	0.01
R4449:Sema3c	UTSW	5	17,781,844 (GRCm39)	start gained	probably benign
R4545:Sema3c	UTSW	5	17,899,770 (GRCm39)	missense	probably benign	0.01
R4546:Sema3c	UTSW	5	17,899,770 (GRCm39)	missense	probably benign	0.01
R4660:Sema3c	UTSW	5	17,877,511 (GRCm39)	missense	probably damaging	1.00
R4890:Sema3c	UTSW	5	17,880,157 (GRCm39)	missense	probably benign	0.00
R4937:Sema3c	UTSW	5	17,899,684 (GRCm39)	missense	probably benign	0.01
R5065:Sema3c	UTSW	5	17,932,615 (GRCm39)	missense	possibly damaging	0.89
R5145:Sema3c	UTSW	5	17,932,615 (GRCm39)	missense	possibly damaging	0.89
R5452:Sema3c	UTSW	5	17,922,068 (GRCm39)	critical splice donor site	probably null
R5586:Sema3c	UTSW	5	17,916,422 (GRCm39)	missense	probably damaging	0.99
R5811:Sema3c	UTSW	5	17,880,188 (GRCm39)	splice site	probably null
R5886:Sema3c	UTSW	5	17,886,984 (GRCm39)	missense	possibly damaging	0.90
R6120:Sema3c	UTSW	5	17,932,630 (GRCm39)	missense	probably benign	0.00
R6191:Sema3c	UTSW	5	17,858,804 (GRCm39)	missense	probably damaging	1.00
R6318:Sema3c	UTSW	5	17,877,430 (GRCm39)	missense	probably damaging	0.96
R6416:Sema3c	UTSW	5	17,781,959 (GRCm39)	missense	probably damaging	0.99
R6441:Sema3c	UTSW	5	17,929,130 (GRCm39)	missense	possibly damaging	0.96
R6816:Sema3c	UTSW	5	17,875,463 (GRCm39)	missense	probably benign	0.36
R7146:Sema3c	UTSW	5	17,899,701 (GRCm39)	missense	probably benign	0.22
R7526:Sema3c	UTSW	5	17,932,594 (GRCm39)	missense	possibly damaging	0.46
R7832:Sema3c	UTSW	5	17,899,845 (GRCm39)	missense	probably damaging	0.99
R8034:Sema3c	UTSW	5	17,932,480 (GRCm39)	missense	probably damaging	1.00
R8053:Sema3c	UTSW	5	17,860,020 (GRCm39)	missense	probably benign	0.00
R8076:Sema3c	UTSW	5	17,932,362 (GRCm39)	missense	probably benign	0.00
R8264:Sema3c	UTSW	5	17,881,537 (GRCm39)	intron	probably benign
R8359:Sema3c	UTSW	5	17,858,726 (GRCm39)	missense	possibly damaging	0.56
R8437:Sema3c	UTSW	5	17,867,936 (GRCm39)	missense	probably damaging	0.99
R9174:Sema3c	UTSW	5	17,868,039 (GRCm39)	critical splice donor site	probably null
R9295:Sema3c	UTSW	5	17,932,495 (GRCm39)	missense	probably benign	0.09
R9477:Sema3c	UTSW	5	17,921,981 (GRCm39)	missense
R9599:Sema3c	UTSW	5	17,919,452 (GRCm39)	critical splice donor site	probably null
R9702:Sema3c	UTSW	5	17,858,828 (GRCm39)	missense	probably damaging	1.00
Z1176:Sema3c	UTSW	5	17,932,517 (GRCm39)	missense	probably benign	0.04
Z1177:Sema3c	UTSW	5	17,922,029 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCTACAGGATGGTTTAGCACAGC -3'
(R):5'- TCACTGACAGACAAGTGAGGTCTACG -3'

Sequencing Primer
(F):5'- AACATCTCTTGCAGAGTTTGCAC -3'
(R):5'- CAAGTGAGGTCTACGTCAAATC -3'

Posted On

2013-06-11