Incidental Mutation 'IGL03004:Sema3b'
ID 407471
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 # IGL03004
Quality Score
Status
Chromosome 9
Chromosomal Location 107474873-107486428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107480114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 208 (P208L)
Ref Sequence ENSEMBL: ENSMUSP00000099591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073448] [ENSMUST00000102529] [ENSMUST00000102530] [ENSMUST00000102531] [ENSMUST00000102532] [ENSMUST00000123926] [ENSMUST00000194606] [ENSMUST00000195662] [ENSMUST00000193180] [ENSMUST00000194433] [ENSMUST00000195057]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000073448
AA Change: P208L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: P208L

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 possibly damaging
Transcript: ENSMUST00000102529
AA Change: P208L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: P208L

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 possibly damaging
Transcript: ENSMUST00000102530
AA Change: P208L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: P208L

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 possibly damaging
Transcript: ENSMUST00000102531
AA Change: P208L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: P208L

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 possibly damaging
Transcript: ENSMUST00000102532
AA Change: P208L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: P208L

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 benign
Transcript: ENSMUST00000123926
AA Change: P208L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: P208L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195472
Predicted Effect probably benign
Transcript: ENSMUST00000194606
Predicted Effect probably benign
Transcript: ENSMUST00000195662
SMART Domains Protein: ENSMUSP00000141614
Gene: ENSMUSG00000057969

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 137 8.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193180
SMART Domains Protein: ENSMUSP00000141726
Gene: ENSMUSG00000057969

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 148 8.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194433
SMART Domains Protein: ENSMUSP00000141403
Gene: ENSMUSG00000057969

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 172 3.5e-36 PFAM
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrx A T X: 104,876,115 (GRCm39) C78* probably null Het
Birc6 T A 17: 74,919,180 (GRCm39) N1999K probably benign Het
Bltp1 T A 3: 37,019,826 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,413 (GRCm39) R313Q probably benign Het
Clip3 A G 7: 29,991,789 (GRCm39) Y55C probably damaging Het
Ddit4l A G 3: 137,331,966 (GRCm39) N111D probably benign Het
Eprs1 T G 1: 185,114,030 (GRCm39) M326R probably damaging Het
F8 C T X: 74,255,658 (GRCm39) G2045D probably damaging Het
Fstl5 A G 3: 76,555,738 (GRCm39) probably benign Het
Gm10577 T C 4: 100,877,526 (GRCm39) probably benign Het
Heatr6 T C 11: 83,648,205 (GRCm39) S133P probably benign Het
Itpr3 T G 17: 27,316,952 (GRCm39) F736V possibly damaging Het
Klf8 T C X: 152,165,716 (GRCm39) L95P probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Map3k12 A G 15: 102,412,631 (GRCm39) V247A possibly damaging Het
Obscn A G 11: 58,919,413 (GRCm39) Y6211H probably damaging Het
Or1j19 A G 2: 36,677,194 (GRCm39) Y219C probably damaging Het
Pip4k2b A G 11: 97,615,300 (GRCm39) Y187H probably damaging Het
Rabggta A G 14: 55,956,687 (GRCm39) probably benign Het
Ranbp3 T A 17: 57,014,207 (GRCm39) V246E probably damaging Het
Rtf1 C A 2: 119,531,754 (GRCm39) probably benign Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Spam1 T C 6: 24,796,913 (GRCm39) V288A probably damaging Het
Stac A C 9: 111,431,608 (GRCm39) S248A probably benign Het
Tmem178b C A 6: 40,222,515 (GRCm39) R77S probably damaging Het
Vegfd T C X: 163,185,104 (GRCm39) L352P probably benign Het
Vmn1r176 A T 7: 23,534,702 (GRCm39) N150K probably damaging Het
Vmn1r230 T C 17: 21,067,772 (GRCm39) probably benign Het
Vsig10 A G 5: 117,463,140 (GRCm39) Y122C probably damaging Het
Xpo5 T A 17: 46,518,766 (GRCm39) V121E probably damaging Het
Zrsr2 T C X: 162,722,397 (GRCm39) Q285R probably benign 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
IGL03026:Sema3b APN 9 107,479,262 (GRCm39) missense probably damaging 1.00
IGL03129:Sema3b APN 9 107,476,995 (GRCm39) unclassified probably benign
IGL03334:Sema3b APN 9 107,481,276 (GRCm39) missense probably damaging 1.00
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