Incidental Mutation 'IGL02750:Sema3b'
ID306230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3b
Ensembl Gene ENSMUSG00000057969
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
SynonymsSemA, sema5, semaV, Semaa, LUCA-1, SemA
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.469) question?
Stock #IGL02750
Quality Score
Status
Chromosome9
Chromosomal Location107597674-107609229 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107603164 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000141403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073448] [ENSMUST00000102529] [ENSMUST00000102530] [ENSMUST00000102531] [ENSMUST00000102532] [ENSMUST00000123926] [ENSMUST00000193180] [ENSMUST00000194433] [ENSMUST00000194606] [ENSMUST00000195057] [ENSMUST00000195662]
Predicted Effect probably benign
Transcript: ENSMUST00000073448
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: T168A

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: ENSMUST00000102529
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: T168A

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: ENSMUST00000102530
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: T168A

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: ENSMUST00000102531
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: T168A

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: ENSMUST00000102532
AA Change: T168A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: T168A

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: T168A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: T168A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 55 497 6.37e-207 SMART
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 noncoding transcript
Transcript: ENSMUST00000193234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193551
Predicted Effect probably benign
Transcript: ENSMUST00000194433
AA Change: T168A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141403
Gene: ENSMUSG00000057969
AA Change: T168A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 55 172 3.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194606
Predicted Effect probably benign
Transcript: ENSMUST00000195057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195472
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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Sema3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Sema3b APN 9 107604041 critical splice donor site probably null
IGL02878:Sema3b APN 9 107600993 missense probably damaging 0.97
IGL03004:Sema3b APN 9 107602915 missense possibly damaging 0.72
IGL03026:Sema3b APN 9 107602063 missense probably damaging 1.00
IGL03129:Sema3b APN 9 107599796 unclassified probably benign
IGL03334:Sema3b APN 9 107604077 missense probably damaging 1.00
R0373:Sema3b UTSW 9 107602918 missense probably benign 0.05
R0384:Sema3b UTSW 9 107600966 missense probably damaging 1.00
R0883:Sema3b UTSW 9 107604156 missense possibly damaging 0.77
R3916:Sema3b UTSW 9 107600458 missense probably damaging 1.00
R3971:Sema3b UTSW 9 107600368 missense probably benign
R4212:Sema3b UTSW 9 107603398 missense probably damaging 1.00
R4647:Sema3b UTSW 9 107599051 missense possibly damaging 0.79
R4694:Sema3b UTSW 9 107605002 missense probably benign 0.03
R4791:Sema3b UTSW 9 107603813 missense probably damaging 1.00
R4853:Sema3b UTSW 9 107602067 unclassified probably null
R5305:Sema3b UTSW 9 107603337 missense probably null 1.00
R5487:Sema3b UTSW 9 107600962 missense probably damaging 1.00
R5745:Sema3b UTSW 9 107601429 missense probably damaging 0.98
R5751:Sema3b UTSW 9 107599714 missense probably benign
R6086:Sema3b UTSW 9 107600848 missense probably damaging 1.00
R6306:Sema3b UTSW 9 107600920 missense possibly damaging 0.88
R6594:Sema3b UTSW 9 107598826 missense probably benign 0.01
R6816:Sema3b UTSW 9 107600350 missense probably benign 0.08
R6833:Sema3b UTSW 9 107603316 missense probably benign 0.04
R7320:Sema3b UTSW 9 107600942 missense probably benign
Z1088:Sema3b UTSW 9 107599034 unclassified probably null
Posted On2015-04-16