Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02051:Sema3e'

186112

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02051

Quality Score

Status

Chromosome

Chromosomal Location

14075290-14306703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14274324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 192 (Y192N)

Ref Sequence

ENSEMBL: ENSMUSP00000073612 (fasta)

Gene Model

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

AlphaFold

P70275

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073957
AA Change: Y192N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: Y192N

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

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacul1	T	C	19: 60,531,504 (GRCm39)	D255G	probably damaging	Het
Chi3l1	T	C	1: 134,111,887 (GRCm39)	S94P	probably damaging	Het
Defa38	A	G	8: 21,585,275 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,792,617 (GRCm39)	T223A	probably benign	Het
Firrm	T	C	1: 163,785,091 (GRCm39)	T763A	probably benign	Het
Gfra3	T	C	18: 34,828,894 (GRCm39)	T167A	possibly damaging	Het
Glb1l3	T	C	9: 26,736,464 (GRCm39)	I533V	probably benign	Het
Gm11437	T	A	11: 84,043,592 (GRCm39)	Q233L	probably benign	Het
Hif1an	A	G	19: 44,551,829 (GRCm39)	Y93C	probably damaging	Het
Hspg2	A	G	4: 137,295,700 (GRCm39)		probably benign	Het
Ints15	A	G	5: 143,293,737 (GRCm39)	C247R	probably damaging	Het
Mak	G	A	13: 41,195,558 (GRCm39)	A385V	probably benign	Het
Mical2	G	T	7: 111,980,597 (GRCm39)	K190N	probably benign	Het
Moxd1	A	G	10: 24,128,916 (GRCm39)		probably null	Het
Ptpn5	A	G	7: 46,732,507 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,771,083 (GRCm39)	Y2614H	probably benign	Het
Smpd4	T	C	16: 17,444,382 (GRCm39)	L145P	probably damaging	Het
Tesk2	A	G	4: 116,608,381 (GRCm39)	E101G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,948 (GRCm39)	V50E	probably benign	Het
Vpreb3	G	A	10: 75,784,244 (GRCm39)		probably null	Het
Vps72	T	C	3: 95,030,040 (GRCm39)	L353P	possibly damaging	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
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
R5512:Sema3e	UTSW	5	14,280,194 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07