Incidental Mutation 'IGL02472:Sema3f'
ID294762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3f
Ensembl Gene ENSMUSG00000034684
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SynonymsSema IV, Semak
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02472
Quality Score
Status
Chromosome9
Chromosomal Location107681500-107710475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 107687736 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 307 (E307K)
Ref Sequence ENSEMBL: ENSMUSP00000079400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080560] [ENSMUST00000192727] [ENSMUST00000192783] [ENSMUST00000193108] [ENSMUST00000194039]
Predicted Effect probably damaging
Transcript: ENSMUST00000080560
AA Change: E307K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079400
Gene: ENSMUSG00000034684
AA Change: E307K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 57 498 5.46e-206 SMART
PSI 516 568 1.87e-12 SMART
IGc2 586 654 3.79e-4 SMART
low complexity region 673 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192712
Predicted Effect probably damaging
Transcript: ENSMUST00000192727
AA Change: E338K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141865
Gene: ENSMUSG00000034684
AA Change: E338K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 57 529 3.31e-205 SMART
PSI 547 599 1.87e-12 SMART
IGc2 617 685 3.79e-4 SMART
low complexity region 704 726 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192783
SMART Domains Protein: ENSMUSP00000141668
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
Sema 1 276 3.6e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193108
SMART Domains Protein: ENSMUSP00000141878
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sema 57 191 9.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193665
Predicted Effect probably benign
Transcript: ENSMUST00000194039
SMART Domains Protein: ENSMUSP00000142221
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sema 57 185 2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194846
Predicted Effect probably benign
Transcript: ENSMUST00000195023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195267
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Inactivation of this locus results in neuronal defects including impaired CNS axon pathfinding, and PNS and limbic system circuitry. Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity and LEC numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Becn1 C T 11: 101,291,398 G115D probably benign Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Espnl C T 1: 91,340,534 P294L probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Gorasp2 T G 2: 70,676,459 probably benign Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Siglec15 T A 18: 78,043,617 K342N possibly damaging Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tm6sf1 A T 7: 81,875,824 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Sema3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Sema3f APN 9 107685522 missense probably benign 0.44
IGL01940:Sema3f APN 9 107683697 unclassified probably benign
IGL02070:Sema3f APN 9 107692241 missense probably damaging 1.00
IGL02381:Sema3f APN 9 107692395 missense probably damaging 1.00
IGL02557:Sema3f APN 9 107687212 missense probably damaging 1.00
IGL02614:Sema3f APN 9 107682511 missense probably benign 0.28
IGL02660:Sema3f APN 9 107683984 missense probably benign 0.05
R1468:Sema3f UTSW 9 107687572 unclassified probably benign
R1905:Sema3f UTSW 9 107684376 missense probably damaging 1.00
R4728:Sema3f UTSW 9 107705440 missense probably benign 0.00
R4772:Sema3f UTSW 9 107689720 nonsense probably null
R4786:Sema3f UTSW 9 107682682 missense probably benign 0.45
R4845:Sema3f UTSW 9 107685501 missense probably damaging 1.00
R5418:Sema3f UTSW 9 107692621 missense probably damaging 1.00
R5780:Sema3f UTSW 9 107682589 missense probably damaging 0.98
R5849:Sema3f UTSW 9 107682616 missense probably damaging 0.98
R5929:Sema3f UTSW 9 107692193 missense probably damaging 1.00
R6968:Sema3f UTSW 9 107691449 critical splice acceptor site probably null
R7043:Sema3f UTSW 9 107691400 missense possibly damaging 0.91
R7449:Sema3f UTSW 9 107684036 missense probably damaging 1.00
R7526:Sema3f UTSW 9 107689728 missense probably damaging 0.96
R7559:Sema3f UTSW 9 107684578 missense possibly damaging 0.52
R7640:Sema3f UTSW 9 107683575 missense probably benign 0.20
R7771:Sema3f UTSW 9 107692426 missense possibly damaging 0.89
R7789:Sema3f UTSW 9 107705432 missense probably benign 0.00
R8058:Sema3f UTSW 9 107682601 missense probably benign 0.42
R8113:Sema3f UTSW 9 107688076 missense possibly damaging 0.95
Posted On2015-04-16