Mutagenetix > Incidental Mutation

Incidental Mutation 'R5512:Sema3e'

440081

Institutional Source

Beutler Lab

Gene Symbol

Sema3e

Ensembl Gene

ENSMUSG00000063531

Gene Name

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

Synonyms

Semah

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14075290-14306703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14280194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 358 (A358T)

Ref Sequence

ENSEMBL: ENSMUSP00000073612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073957]

AlphaFold

P70275

Predicted Effect

probably damaging
Transcript: ENSMUST00000073957
AA Change: A358T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: A358T

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Sema	58	500	1.85e-194	SMART
PSI	518	573	1.81e-10	SMART
IG	587	673	5.75e-4	SMART
low complexity region	737	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199698

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc. [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
2310057M21Rik	A	G	7: 130,952,389 (GRCm39)	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Adgre5	T	C	8: 84,455,715 (GRCm39)	N198D	probably benign	Het
Adgrf4	G	T	17: 42,978,176 (GRCm39)	T389K	probably benign	Het
Apc	T	A	18: 34,443,962 (GRCm39)		probably benign	Het
Appl2	T	A	10: 83,441,682 (GRCm39)	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,632,845 (GRCm39)	Q531*	probably null	Het
Atp7b	T	C	8: 22,502,755 (GRCm39)	T694A	probably benign	Het
Cacna1g	T	A	11: 94,334,968 (GRCm39)	I780F	probably damaging	Het
Calcoco2	T	C	11: 95,994,162 (GRCm39)	K95E	probably damaging	Het
Cars1	T	C	7: 143,123,870 (GRCm39)	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,393,806 (GRCm39)	E690A	probably damaging	Het
Cdc73	G	T	1: 143,578,354 (GRCm39)	D3E	probably damaging	Het
Cdh23	C	A	10: 60,370,165 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,699,919 (GRCm39)	S143P	possibly damaging	Het
Cherp	T	C	8: 73,217,110 (GRCm39)	I607V	possibly damaging	Het
CN725425	T	A	15: 91,124,959 (GRCm39)	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,227,404 (GRCm39)	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,624,825 (GRCm39)	P881S	possibly damaging	Het
Drgx	A	G	14: 32,322,001 (GRCm39)	H5R	probably damaging	Het
Dsg1c	A	T	18: 20,405,568 (GRCm39)	N327I	probably damaging	Het
Fbxw7	G	A	3: 84,862,216 (GRCm39)	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,888,183 (GRCm39)	V24E	probably benign	Het
Fut11	T	C	14: 20,746,069 (GRCm39)	S304P	probably damaging	Het
Ggt1	C	T	10: 75,420,718 (GRCm39)	T361I	probably damaging	Het
Gimap7	G	T	6: 48,700,530 (GRCm39)	A39S	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm17541	G	T	12: 4,739,452 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,270,540 (GRCm39)	V750E	probably benign	Het
Gna14	A	G	19: 16,585,492 (GRCm39)	E290G	probably benign	Het
Gpnmb	T	C	6: 49,022,398 (GRCm39)	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,795,865 (GRCm39)	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,760,521 (GRCm39)	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,811,884 (GRCm39)	Q706*	probably null	Het
Krt222	A	C	11: 99,125,781 (GRCm39)	S283R	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Masp2	A	T	4: 148,698,526 (GRCm39)	I536F	probably damaging	Het
Mptx1	A	G	1: 174,160,315 (GRCm39)	D207G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Napsa	A	G	7: 44,222,040 (GRCm39)	M1V	probably null	Het
Ncam1	A	T	9: 49,420,999 (GRCm39)		probably null	Het
Nckap5	G	A	1: 125,955,481 (GRCm39)	P425L	possibly damaging	Het
Nol8	A	G	13: 49,830,263 (GRCm39)	S1116G	probably benign	Het
Nrde2	G	T	12: 100,108,509 (GRCm39)	Q361K	probably benign	Het
Nudt13	G	A	14: 20,357,800 (GRCm39)	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,360,286 (GRCm39)	Q248K	probably benign	Het
Olfm4	A	G	14: 80,258,787 (GRCm39)	D345G	probably benign	Het
Or2t6	C	A	14: 14,175,633 (GRCm38)	G150C	probably damaging	Het
Or4k41	G	A	2: 111,280,099 (GRCm39)	V205I	probably benign	Het
Osbpl3	T	G	6: 50,286,340 (GRCm39)	K659N	probably damaging	Het
Pdk2	G	A	11: 94,930,292 (GRCm39)	T48M	probably damaging	Het
Phf11a	A	T	14: 59,524,999 (GRCm39)	D68E	probably benign	Het
Purb	A	G	11: 6,425,702 (GRCm39)	V62A	probably damaging	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,557,805 (GRCm39)	E1345K	unknown	Het
Slc29a2	A	G	19: 5,076,426 (GRCm39)	I105V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc6a5	G	A	7: 49,591,573 (GRCm39)	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,115,907 (GRCm39)	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,339,445 (GRCm39)	N775S	possibly damaging	Het
Sspo	T	A	6: 48,432,605 (GRCm39)	V827D	probably damaging	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tars2	A	T	3: 95,657,728 (GRCm39)	C238S	probably damaging	Het
Tasor2	A	T	13: 3,645,517 (GRCm39)	Y111N	probably damaging	Het
Tnks1bp1	C	A	2: 84,893,178 (GRCm39)	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,045 (GRCm39)	L373P	probably damaging	Het
Unc45b	A	C	11: 82,805,898 (GRCm39)	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,481,677 (GRCm39)	M1L	probably benign	Het
Vmn2r66	T	C	7: 84,657,149 (GRCm39)	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,004,066 (GRCm39)	L93W	probably benign	Het
Vwf	G	T	6: 125,650,850 (GRCm39)		probably benign	Het
Ythdf3	A	G	3: 16,238,086 (GRCm39)	R9G	probably damaging	Het
Zfp229	A	G	17: 21,964,017 (GRCm39)		probably null	Het
Zfp958	A	C	8: 4,675,838 (GRCm39)		probably null	Het

Other mutations in Sema3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Sema3e	APN	5	14,290,586 (GRCm39)	missense	probably damaging	1.00
IGL01068:Sema3e	APN	5	14,283,732 (GRCm39)	critical splice donor site	probably null
IGL01128:Sema3e	APN	5	14,282,129 (GRCm39)	missense	probably damaging	1.00
IGL01134:Sema3e	APN	5	14,302,784 (GRCm39)	missense	probably damaging	1.00
IGL02013:Sema3e	APN	5	14,280,207 (GRCm39)	missense	probably damaging	1.00
IGL02051:Sema3e	APN	5	14,274,324 (GRCm39)	missense	possibly damaging	0.77
IGL02309:Sema3e	APN	5	14,274,404 (GRCm39)	missense	probably damaging	0.98
IGL02636:Sema3e	APN	5	14,275,670 (GRCm39)	missense	probably benign
IGL02702:Sema3e	APN	5	14,283,740 (GRCm39)	splice site	probably benign
IGL03001:Sema3e	APN	5	14,291,057 (GRCm39)	missense	probably benign	0.19
R0011:Sema3e	UTSW	5	14,194,025 (GRCm39)	nonsense	probably null
R0098:Sema3e	UTSW	5	14,302,446 (GRCm39)	missense	possibly damaging	0.52
R0098:Sema3e	UTSW	5	14,302,446 (GRCm39)	missense	possibly damaging	0.52
R0220:Sema3e	UTSW	5	14,214,167 (GRCm39)	missense	possibly damaging	0.56
R0564:Sema3e	UTSW	5	14,286,099 (GRCm39)	critical splice donor site	probably null
R1079:Sema3e	UTSW	5	14,275,669 (GRCm39)	missense	probably benign	0.12
R1187:Sema3e	UTSW	5	14,282,098 (GRCm39)	missense	probably damaging	1.00
R1670:Sema3e	UTSW	5	14,212,199 (GRCm39)	splice site	probably benign
R1736:Sema3e	UTSW	5	14,260,390 (GRCm39)	missense	probably damaging	1.00
R3433:Sema3e	UTSW	5	14,302,728 (GRCm39)	missense	probably benign	0.00
R3831:Sema3e	UTSW	5	14,276,496 (GRCm39)	missense	probably damaging	1.00
R4094:Sema3e	UTSW	5	14,283,704 (GRCm39)	missense	probably benign	0.12
R4580:Sema3e	UTSW	5	14,283,717 (GRCm39)	missense	probably damaging	1.00
R4828:Sema3e	UTSW	5	14,276,654 (GRCm39)	missense	probably damaging	1.00
R4855:Sema3e	UTSW	5	14,280,144 (GRCm39)	missense	probably damaging	0.99
R4884:Sema3e	UTSW	5	14,275,579 (GRCm39)	missense	probably damaging	1.00
R4960:Sema3e	UTSW	5	14,302,646 (GRCm39)	missense	possibly damaging	0.93
R5264:Sema3e	UTSW	5	14,276,662 (GRCm39)	missense	probably damaging	1.00
R5389:Sema3e	UTSW	5	14,286,099 (GRCm39)	critical splice donor site	probably benign
R5642:Sema3e	UTSW	5	14,212,257 (GRCm39)	missense	probably damaging	1.00
R5647:Sema3e	UTSW	5	14,275,567 (GRCm39)	missense	probably damaging	0.99
R5814:Sema3e	UTSW	5	14,275,680 (GRCm39)	missense	probably benign	0.01
R5993:Sema3e	UTSW	5	14,274,307 (GRCm39)	missense	probably damaging	1.00
R6076:Sema3e	UTSW	5	14,291,100 (GRCm39)	missense	probably benign	0.01
R6906:Sema3e	UTSW	5	14,290,601 (GRCm39)	missense	probably damaging	1.00
R7432:Sema3e	UTSW	5	14,274,404 (GRCm39)	missense	probably damaging	0.98
R8738:Sema3e	UTSW	5	14,214,169 (GRCm39)	missense	possibly damaging	0.95
R8849:Sema3e	UTSW	5	14,302,673 (GRCm39)	missense	probably damaging	1.00
R8879:Sema3e	UTSW	5	14,282,108 (GRCm39)	missense	probably benign	0.16
R8935:Sema3e	UTSW	5	14,282,127 (GRCm39)	missense	probably damaging	0.97
R9071:Sema3e	UTSW	5	14,282,154 (GRCm39)	missense	probably benign	0.00
R9100:Sema3e	UTSW	5	14,282,208 (GRCm39)	missense	probably damaging	1.00
R9367:Sema3e	UTSW	5	14,291,084 (GRCm39)	missense	probably benign	0.00
R9444:Sema3e	UTSW	5	14,302,625 (GRCm39)	missense	possibly damaging	0.63
R9478:Sema3e	UTSW	5	14,286,386 (GRCm39)	missense	probably damaging	1.00
R9601:Sema3e	UTSW	5	14,302,397 (GRCm39)	missense	possibly damaging	0.95
R9671:Sema3e	UTSW	5	14,212,217 (GRCm39)	missense	probably benign	0.00
X0064:Sema3e	UTSW	5	14,280,156 (GRCm39)	missense	probably benign	0.05
Z1088:Sema3e	UTSW	5	14,276,470 (GRCm39)	missense	probably damaging	0.97
Z1177:Sema3e	UTSW	5	14,075,725 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGAGTGATAAAGTCTTTCGGTC -3'
(R):5'- GCAGCTCTTTACCGTTTGAACATTC -3'

Sequencing Primer
(F):5'- GTGATAAAGTCTTTCGGTCTCATTAC -3'
(R):5'- TGTAAAGTAAGACAGAACACATG -3'

Posted On

2016-11-08