Incidental Mutation 'IGL02381:Sema3f'
ID 291366
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 # IGL02381
Quality Score
Status
Chromosome 9
Chromosomal Location 107558699-107587674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107569594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 48 (D48E)
Ref Sequence ENSEMBL: ENSMUSP00000141668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080560] [ENSMUST00000192727] [ENSMUST00000192783] [ENSMUST00000193108] [ENSMUST00000194039]
AlphaFold O88632
Predicted Effect possibly damaging
Transcript: ENSMUST00000080560
AA Change: D110E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079400
Gene: ENSMUSG00000034684
AA Change: D110E

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: ENSMUST00000192712
Predicted Effect possibly damaging
Transcript: ENSMUST00000192727
AA Change: D110E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141865
Gene: ENSMUSG00000034684
AA Change: D110E

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 damaging
Transcript: ENSMUST00000192783
AA Change: D48E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141668
Gene: ENSMUSG00000034684
AA Change: D48E

DomainStartEndE-ValueType
Sema 1 276 3.6e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193108
AA Change: D110E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141878
Gene: ENSMUSG00000034684
AA Change: D110E

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 possibly damaging
Transcript: ENSMUST00000194039
AA Change: D110E

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142221
Gene: ENSMUSG00000034684
AA Change: D110E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sema 57 185 2e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000195023
AA Change: D68E
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,904,413 (GRCm39) I126F probably damaging Het
Antxrl T G 14: 33,778,568 (GRCm39) probably null Het
Arsa A T 15: 89,359,740 (GRCm39) Y62* probably null Het
Atg2b C A 12: 105,614,607 (GRCm39) C1108F probably damaging Het
Atp8a1 T C 5: 67,863,338 (GRCm39) Q651R probably benign Het
Atxn7l2 A G 3: 108,111,811 (GRCm39) probably benign Het
Cacna1f A G X: 7,482,307 (GRCm39) D597G probably damaging Het
Capn12 T C 7: 28,585,880 (GRCm39) probably benign Het
Ctnna2 A T 6: 76,931,766 (GRCm39) D624E probably benign Het
Dnah2 T C 11: 69,337,118 (GRCm39) E3274G probably benign Het
Dnah7b A T 1: 46,316,280 (GRCm39) N3131I probably damaging Het
Fam3a C T X: 73,430,690 (GRCm39) G112E probably damaging Het
Focad T G 4: 88,192,327 (GRCm39) probably benign Het
Fyb2 G A 4: 104,805,863 (GRCm39) probably benign Het
Htt C T 5: 34,987,104 (GRCm39) P1108S probably benign Het
Ift80 A T 3: 68,869,653 (GRCm39) probably null Het
Insc T C 7: 114,449,177 (GRCm39) *533Q probably null Het
Itga2 A G 13: 114,993,258 (GRCm39) C786R probably damaging Het
Lman2 A G 13: 55,499,282 (GRCm39) W198R possibly damaging Het
Med23 A G 10: 24,776,626 (GRCm39) T713A possibly damaging Het
Mtus1 A T 8: 41,536,156 (GRCm39) M520K probably benign Het
Mvd C A 8: 123,163,894 (GRCm39) G252V probably benign Het
Ncoa3 T A 2: 165,894,737 (GRCm39) V340E probably damaging Het
Necab1 A G 4: 15,148,812 (GRCm39) probably null Het
Noxred1 T C 12: 87,271,776 (GRCm39) D131G probably damaging Het
P2ry4 C A X: 99,637,807 (GRCm39) K30N probably damaging Het
Pcdhac2 T A 18: 37,277,320 (GRCm39) V100D possibly damaging Het
Piezo1 C A 8: 123,225,283 (GRCm39) R571L probably benign Het
Pkd1l2 C T 8: 117,762,539 (GRCm39) probably benign Het
Plekhm2 T C 4: 141,370,034 (GRCm39) T32A possibly damaging Het
Rev3l T C 10: 39,697,342 (GRCm39) V613A possibly damaging Het
Rp1 A G 1: 4,422,613 (GRCm39) S156P probably benign Het
Shisal1 A G 15: 84,290,654 (GRCm39) S218P probably damaging Het
Slc29a4 T C 5: 142,705,854 (GRCm39) V446A probably benign Het
Sppl3 C T 5: 115,212,969 (GRCm39) probably null Het
Ttn T C 2: 76,599,982 (GRCm39) E19064G probably damaging Het
Vps35l A G 7: 118,374,598 (GRCm39) Y342C 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
IGL02472:Sema3f APN 9 107,564,935 (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