Incidental Mutation 'IGL02472:Sema3f'
ID 294762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3f
Ensembl Gene ENSMUSG00000034684
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
Synonyms Sema IV, Semak
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 9
Chromosomal Location 107558699-107587674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107564935 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O88632
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: ENSMUST00000194846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195267
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: ENSMUST00000195023
Predicted Effect probably benign
Transcript: ENSMUST00000194424
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: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Sema3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Sema3f APN 9 107,562,721 (GRCm39) missense probably benign 0.44
IGL01940:Sema3f APN 9 107,560,896 (GRCm39) unclassified probably benign
IGL02070:Sema3f APN 9 107,569,440 (GRCm39) missense probably damaging 1.00
IGL02381:Sema3f APN 9 107,569,594 (GRCm39) missense probably damaging 1.00
IGL02557:Sema3f APN 9 107,564,411 (GRCm39) missense probably damaging 1.00
IGL02614:Sema3f APN 9 107,559,710 (GRCm39) missense probably benign 0.28
IGL02660:Sema3f APN 9 107,561,183 (GRCm39) missense probably benign 0.05
R1468:Sema3f UTSW 9 107,564,771 (GRCm39) unclassified probably benign
R1905:Sema3f UTSW 9 107,561,575 (GRCm39) missense probably damaging 1.00
R4728:Sema3f UTSW 9 107,582,639 (GRCm39) missense probably benign 0.00
R4772:Sema3f UTSW 9 107,566,919 (GRCm39) nonsense probably null
R4786:Sema3f UTSW 9 107,559,881 (GRCm39) missense probably benign 0.45
R4845:Sema3f UTSW 9 107,562,700 (GRCm39) missense probably damaging 1.00
R5418:Sema3f UTSW 9 107,569,820 (GRCm39) missense probably damaging 1.00
R5780:Sema3f UTSW 9 107,559,788 (GRCm39) missense probably damaging 0.98
R5849:Sema3f UTSW 9 107,559,815 (GRCm39) missense probably damaging 0.98
R5929:Sema3f UTSW 9 107,569,392 (GRCm39) missense probably damaging 1.00
R6968:Sema3f UTSW 9 107,568,648 (GRCm39) critical splice acceptor site probably null
R7043:Sema3f UTSW 9 107,568,599 (GRCm39) missense possibly damaging 0.91
R7449:Sema3f UTSW 9 107,561,235 (GRCm39) missense probably damaging 1.00
R7526:Sema3f UTSW 9 107,566,927 (GRCm39) missense probably damaging 0.96
R7559:Sema3f UTSW 9 107,561,777 (GRCm39) missense possibly damaging 0.52
R7640:Sema3f UTSW 9 107,560,774 (GRCm39) missense probably benign 0.20
R7771:Sema3f UTSW 9 107,569,625 (GRCm39) missense possibly damaging 0.89
R7789:Sema3f UTSW 9 107,582,631 (GRCm39) missense probably benign 0.00
R8058:Sema3f UTSW 9 107,559,800 (GRCm39) missense probably benign 0.42
R8113:Sema3f UTSW 9 107,565,275 (GRCm39) missense possibly damaging 0.95
R9574:Sema3f UTSW 9 107,566,972 (GRCm39) missense possibly damaging 0.50
R9641:Sema3f UTSW 9 107,565,454 (GRCm39) missense unknown
R9674:Sema3f UTSW 9 107,566,947 (GRCm39) missense possibly damaging 0.69
R9799:Sema3f UTSW 9 107,562,562 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16