Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Sema3c'

723444

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17779814-17935266 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 17919452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030568 (fasta)

Gene Model

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

AlphaFold

Q62181

Predicted Effect

probably null
Transcript: ENSMUST00000030568

SMART Domains

Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,267 (GRCm39)	N1152S	probably benign	Het
Abcb6	A	T	1: 75,151,372 (GRCm39)	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,030,745 (GRCm39)	P168S	probably damaging	Het
Adam12	A	G	7: 133,566,454 (GRCm39)	V332A	probably damaging	Het
Adam23	T	C	1: 63,620,359 (GRCm39)	I805T	probably benign	Het
Adar	A	G	3: 89,654,516 (GRCm39)	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,107,912 (GRCm39)	T319A	probably damaging	Het
Apcdd1	T	A	18: 63,083,269 (GRCm39)		probably null	Het
Arhgef18	C	A	8: 3,482,718 (GRCm39)	A141E	possibly damaging	Het
Bub3	A	G	7: 131,170,428 (GRCm39)	T317A	probably benign	Het
Ccdc102a	A	G	8: 95,639,901 (GRCm39)	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,269,265 (GRCm39)	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,219,381 (GRCm39)	E125G	probably damaging	Het
Ccdc68	A	G	18: 70,093,492 (GRCm39)	E233G	probably damaging	Het
Cep192	A	G	18: 67,968,525 (GRCm39)	D973G	probably benign	Het
Cox5b	T	A	1: 36,730,759 (GRCm39)	M31K	probably benign	Het
Cse1l	A	G	2: 166,783,386 (GRCm39)	N780S	probably benign	Het
Cyfip1	T	C	7: 55,563,277 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,607,770 (GRCm39)	P133S	probably benign	Het
Dcp1a	A	G	14: 30,241,497 (GRCm39)	M436V	probably benign	Het
Dcst1	G	T	3: 89,265,075 (GRCm39)	Y258*	probably null	Het
Dhx30	T	C	9: 109,914,518 (GRCm39)	E993G	possibly damaging	Het
Disc1	A	T	8: 125,814,261 (GRCm39)	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Entrep3	A	G	3: 89,094,099 (GRCm39)	D304G	possibly damaging	Het
Erbb2	A	T	11: 98,318,216 (GRCm39)	D484V	probably benign	Het
Fxr2	A	G	11: 69,543,469 (GRCm39)	N657D	probably benign	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gdap2	A	T	3: 100,078,264 (GRCm39)	N76I	probably damaging	Het
Gm20939	A	G	17: 95,184,666 (GRCm39)	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,540,459 (GRCm39)	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,217,098 (GRCm39)	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ighv1-62-1	T	C	12: 115,350,601 (GRCm39)	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,895,211 (GRCm39)	F418L	probably benign	Het
Lin54	C	A	5: 100,598,546 (GRCm39)	R593L	probably damaging	Het
Lrp1	T	A	10: 127,410,246 (GRCm39)	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,999,494 (GRCm39)	S287R	probably benign	Het
Mab21l4	T	C	1: 93,087,568 (GRCm39)	E95G	possibly damaging	Het
Madd	G	A	2: 91,006,026 (GRCm39)	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 25,118,124 (GRCm39)	R1281L	probably damaging	Het
Masp1	T	A	16: 23,271,698 (GRCm39)	T618S	probably benign	Het
Mgat5	A	G	1: 127,248,445 (GRCm39)	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl39	A	G	16: 84,527,359 (GRCm39)	F176S	probably damaging	Het
Myt1l	T	C	12: 29,943,441 (GRCm39)	I953T	unknown	Het
Nedd4l	A	G	18: 65,343,400 (GRCm39)	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,664,855 (GRCm39)	V455D	probably damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or10ak8	C	T	4: 118,773,851 (GRCm39)	R271Q	probably benign	Het
Patz1	A	G	11: 3,240,720 (GRCm39)	N36S	probably benign	Het
Peg3	T	A	7: 6,714,723 (GRCm39)	K166N	probably damaging	Het
Pes1	T	A	11: 3,926,118 (GRCm39)	D302E	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,054,972 (GRCm39)	T627M	unknown	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751 (GRCm39)	V191A	probably benign	Het
Scn8a	A	T	15: 100,911,172 (GRCm39)	K864M	probably damaging	Het
Slc24a4	C	T	12: 102,097,779 (GRCm39)	T30I	probably benign	Het
Slc27a2	A	G	2: 126,420,904 (GRCm39)	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,393,920 (GRCm39)	M75T	probably benign	Het
Srgap2	A	G	1: 131,272,164 (GRCm39)	S41P		Het
St3gal5	A	G	6: 72,130,580 (GRCm39)	T391A	probably benign	Het
Stkld1	T	C	2: 26,843,297 (GRCm39)	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,502,701 (GRCm39)	M1074K	probably benign	Het
Tent2	G	T	13: 93,322,821 (GRCm39)	Q43K	probably benign	Het
Tpsb2	T	A	17: 25,586,077 (GRCm39)	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,964,144 (GRCm39)	D36N	probably benign	Het
Trim16	A	G	11: 62,731,644 (GRCm39)	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,457,458 (GRCm39)	D310G	probably benign	Het
Ubox5	A	G	2: 130,441,835 (GRCm39)	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,478,457 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,804,941 (GRCm39)	D57G	probably damaging	Het
Wdfy4	T	C	14: 32,855,428 (GRCm39)	T729A		Het
Wdr81	A	T	11: 75,344,349 (GRCm39)	M306K	probably benign	Het
Zfp62	A	G	11: 49,106,542 (GRCm39)	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,636,763 (GRCm39)	K1316E	probably damaging	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
R0558:Sema3c	UTSW	5	17,919,413 (GRCm39)	missense	probably benign	0.00
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
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'- ATGCTACAGAGACTATATGCACTG -3'
(R):5'- ATGCTGCCTCCTTTTAGAATACTG -3'

Sequencing Primer
(F):5'- CAGAGACTATATGCACTGAAAACAG -3'
(R):5'- TGGGCATACCATCATAGTTAAGG -3'

Posted On

2022-08-09