Incidental Mutation 'IGL03334:Sema3b'
ID 416973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3b
Ensembl Gene ENSMUSG00000057969
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
Synonyms semaV, Semaa, SemA, sema5, SemA, LUCA-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # IGL03334
Quality Score
Status
Chromosome 9
Chromosomal Location 107474873-107486428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107481276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 78 (L78P)
Ref Sequence ENSEMBL: ENSMUSP00000141614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073448] [ENSMUST00000102529] [ENSMUST00000102530] [ENSMUST00000102531] [ENSMUST00000102532] [ENSMUST00000123926] [ENSMUST00000194433] [ENSMUST00000195662] [ENSMUST00000193180] [ENSMUST00000194606] [ENSMUST00000195057]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000073448
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
PSI 515 567 1.77e-13 SMART
IG 577 660 7.7e-5 SMART
low complexity region 665 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102529
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
PSI 515 567 1.77e-13 SMART
IG 577 660 7.7e-5 SMART
low complexity region 665 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102530
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
PSI 515 567 1.77e-13 SMART
IG 577 660 7.7e-5 SMART
low complexity region 665 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102531
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
PSI 515 567 1.77e-13 SMART
IG 577 660 7.7e-5 SMART
low complexity region 665 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102532
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
PSI 515 567 1.77e-13 SMART
IG 577 660 7.7e-5 SMART
low complexity region 665 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123926
AA Change: L78P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194433
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141403
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 172 3.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195662
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141614
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 137 8.4e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193180
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141726
Gene: ENSMUSG00000057969
AA Change: L78P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 148 8.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193551
Predicted Effect probably benign
Transcript: ENSMUST00000194606
Predicted Effect probably benign
Transcript: ENSMUST00000195057
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that belongs to the class 3 semaphorin/collapsin family. Members of this family play a role in growth cone guidance during neurogenesis. The encoded protein inhibits axonal extension. This protein is thought to be an osteoblast protein that regulates bone mass and affects skeletal homeostasis. A similar gene in humans functions as a tumor suppressor gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile with no obvious pathological abnormalities. Mice homozygous for a second knock-out allele exhibit improper positioning of a major brain commissural projection, the anterior commissure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I possibly damaging Het
Other mutations in Sema3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Sema3b APN 9 107,481,240 (GRCm39) critical splice donor site probably null
IGL02750:Sema3b APN 9 107,480,363 (GRCm39) missense probably benign 0.02
IGL02878:Sema3b APN 9 107,478,192 (GRCm39) missense probably damaging 0.97
IGL03004:Sema3b APN 9 107,480,114 (GRCm39) missense possibly damaging 0.72
IGL03026:Sema3b APN 9 107,479,262 (GRCm39) missense probably damaging 1.00
IGL03129:Sema3b APN 9 107,476,995 (GRCm39) unclassified probably benign
R0373:Sema3b UTSW 9 107,480,117 (GRCm39) missense probably benign 0.05
R0384:Sema3b UTSW 9 107,478,165 (GRCm39) missense probably damaging 1.00
R0883:Sema3b UTSW 9 107,481,355 (GRCm39) missense possibly damaging 0.77
R3916:Sema3b UTSW 9 107,477,657 (GRCm39) missense probably damaging 1.00
R3971:Sema3b UTSW 9 107,477,567 (GRCm39) missense probably benign
R4212:Sema3b UTSW 9 107,480,597 (GRCm39) missense probably damaging 1.00
R4647:Sema3b UTSW 9 107,476,250 (GRCm39) missense possibly damaging 0.79
R4694:Sema3b UTSW 9 107,482,201 (GRCm39) missense probably benign 0.03
R4791:Sema3b UTSW 9 107,481,012 (GRCm39) missense probably damaging 1.00
R4853:Sema3b UTSW 9 107,479,266 (GRCm39) splice site probably null
R5305:Sema3b UTSW 9 107,480,536 (GRCm39) missense probably null 1.00
R5487:Sema3b UTSW 9 107,478,161 (GRCm39) missense probably damaging 1.00
R5745:Sema3b UTSW 9 107,478,628 (GRCm39) missense probably damaging 0.98
R5751:Sema3b UTSW 9 107,476,913 (GRCm39) missense probably benign
R6086:Sema3b UTSW 9 107,478,047 (GRCm39) missense probably damaging 1.00
R6306:Sema3b UTSW 9 107,478,119 (GRCm39) missense possibly damaging 0.88
R6594:Sema3b UTSW 9 107,476,025 (GRCm39) missense probably benign 0.01
R6816:Sema3b UTSW 9 107,477,549 (GRCm39) missense probably benign 0.08
R6833:Sema3b UTSW 9 107,480,515 (GRCm39) missense probably benign 0.04
R7320:Sema3b UTSW 9 107,478,141 (GRCm39) missense probably benign
R7448:Sema3b UTSW 9 107,480,162 (GRCm39) missense probably damaging 1.00
R7687:Sema3b UTSW 9 107,481,013 (GRCm39) missense probably damaging 1.00
R8839:Sema3b UTSW 9 107,478,552 (GRCm39) unclassified probably benign
R9090:Sema3b UTSW 9 107,476,154 (GRCm39) missense probably damaging 1.00
R9123:Sema3b UTSW 9 107,478,173 (GRCm39) missense possibly damaging 0.64
R9271:Sema3b UTSW 9 107,476,154 (GRCm39) missense probably damaging 1.00
R9442:Sema3b UTSW 9 107,478,957 (GRCm39) critical splice donor site probably null
R9682:Sema3b UTSW 9 107,481,013 (GRCm39) missense probably damaging 1.00
R9755:Sema3b UTSW 9 107,478,784 (GRCm39) missense probably damaging 1.00
Z1088:Sema3b UTSW 9 107,476,233 (GRCm39) splice site probably null
Z1176:Sema3b UTSW 9 107,476,838 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02