Incidental Mutation 'IGL02092:Sema4g'
ID279469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema4g
Ensembl Gene ENSMUSG00000025207
Gene Namesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02092
Quality Score
Status
Chromosome19
Chromosomal Location44989101-45003397 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 44992639 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000130549] [ENSMUST00000179305]
Predicted Effect probably null
Transcript: ENSMUST00000026225
SMART Domains Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130549
SMART Domains Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000179305
SMART Domains Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cerebellar morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,566,768 probably benign Het
Birc7 A T 2: 180,933,186 R238S probably benign Het
Cdc42bpg C A 19: 6,316,826 probably benign Het
Ces3a T C 8: 105,050,330 probably benign Het
Cntnap2 T C 6: 46,234,203 F517S probably damaging Het
Cracr2b A G 7: 141,464,956 E201G probably damaging Het
Cyth3 T C 5: 143,707,385 probably benign Het
Exoc2 A T 13: 30,875,277 N611K probably benign Het
Fign A T 2: 63,980,583 N114K possibly damaging Het
Gabrb3 A G 7: 57,765,586 T135A probably damaging Het
Htra3 T C 5: 35,671,072 K155E probably damaging Het
Inpp5f T C 7: 128,685,224 L609S probably damaging Het
Kcp C A 6: 29,489,032 probably null Het
Map4k4 A G 1: 39,986,783 K311R probably benign Het
Map4k4 A G 1: 40,024,348 K1228E probably damaging Het
Muc20 G A 16: 32,794,272 S245F probably damaging Het
Olfr1329 A G 4: 118,916,990 L159S possibly damaging Het
Olfr853 T A 9: 19,537,750 Y60F probably damaging Het
Olfr883 T G 9: 38,026,621 S272A possibly damaging Het
Pi4ka A G 16: 17,318,496 M892T probably benign Het
Ptpn22 A G 3: 103,877,321 T234A probably damaging Het
Slc35a3 A G 3: 116,681,132 S204P probably damaging Het
Speer4f2 C T 5: 17,376,629 Q190* probably null Het
Szt2 A G 4: 118,363,332 probably benign Het
Tacr1 T C 6: 82,403,919 Y104H probably damaging Het
Trim23 A G 13: 104,187,612 E173G probably benign Het
Trpm6 T C 19: 18,772,331 I8T possibly damaging Het
Trpv1 T A 11: 73,246,079 probably benign Het
Ufsp2 T C 8: 45,995,664 probably null Het
Wwc2 T C 8: 47,864,535 D669G unknown Het
Zfp940 T C 7: 29,846,201 T94A probably benign Het
Zfp947 T G 17: 22,147,496 D17A probably damaging Het
Other mutations in Sema4g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Sema4g APN 19 44997996 missense probably damaging 1.00
IGL01419:Sema4g APN 19 44997396 missense probably benign 0.00
IGL02033:Sema4g APN 19 44997415 missense probably damaging 1.00
IGL02148:Sema4g APN 19 44996469 missense probably damaging 1.00
IGL02829:Sema4g APN 19 44992749 missense possibly damaging 0.95
IGL02837:Sema4g UTSW 19 44996711 missense probably damaging 0.96
R0550:Sema4g UTSW 19 44997665 missense probably benign
R0675:Sema4g UTSW 19 44997587 missense probably damaging 1.00
R1202:Sema4g UTSW 19 44998257 missense probably benign 0.31
R1346:Sema4g UTSW 19 44997652 missense possibly damaging 0.65
R1533:Sema4g UTSW 19 44992817 missense probably damaging 1.00
R1763:Sema4g UTSW 19 45001605 nonsense probably null
R1775:Sema4g UTSW 19 44999242 critical splice donor site probably null
R1803:Sema4g UTSW 19 44998020 missense probably benign 0.05
R1832:Sema4g UTSW 19 44999017 missense probably benign
R1909:Sema4g UTSW 19 44997622 missense probably damaging 0.96
R4035:Sema4g UTSW 19 45001414 missense probably damaging 0.99
R4131:Sema4g UTSW 19 44998919 missense probably benign
R4611:Sema4g UTSW 19 45001612 missense probably damaging 1.00
R4951:Sema4g UTSW 19 44996571 splice site probably null
R5921:Sema4g UTSW 19 44998704 missense probably benign 0.04
X0011:Sema4g UTSW 19 44998869 splice site probably null
Posted On2015-04-16