Incidental Mutation 'R7448:Sema3b'
ID 577485
Institutional Source Beutler Lab
Gene Symbol Sema3b
Ensembl Gene ENSMUSG00000057969
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
Synonyms SemA, sema5, semaV, Semaa, LUCA-1, SemA
MMRRC Submission 045523-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.434) question?
Stock # R7448 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107597674-107609229 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107602963 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 192 (D192V)
Ref Sequence ENSEMBL: ENSMUSP00000073152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073448] [ENSMUST00000102529] [ENSMUST00000102530] [ENSMUST00000102531] [ENSMUST00000102532] [ENSMUST00000123926] [ENSMUST00000193180] [ENSMUST00000194433] [ENSMUST00000194606] [ENSMUST00000195057] [ENSMUST00000195662]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000073448
AA Change: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073152
Gene: ENSMUSG00000057969
AA Change: D192V

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: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099588
Gene: ENSMUSG00000057969
AA Change: D192V

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: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099589
Gene: ENSMUSG00000057969
AA Change: D192V

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: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099590
Gene: ENSMUSG00000057969
AA Change: D192V

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: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099591
Gene: ENSMUSG00000057969
AA Change: D192V

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: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137952
Gene: ENSMUSG00000057969
AA Change: D192V

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 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: ENSMUST00000194606
Predicted Effect probably benign
Transcript: ENSMUST00000195057
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (117/117)
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A G 18: 38,257,266 (GRCm38) N256D probably damaging Het
1700015F17Rik T C 5: 5,455,952 (GRCm38) I110V probably benign Het
Acss2 T C 2: 155,518,266 (GRCm38) S54P probably damaging Het
Ahnak2 T C 12: 112,782,502 (GRCm38) K1242E Het
Alpi T A 1: 87,101,535 (GRCm38) M1L possibly damaging Het
Atp2c1 C T 9: 105,452,783 (GRCm38) A283T probably damaging Het
Atp8b5 T G 4: 43,366,021 (GRCm38) M764R probably benign Het
B4galnt2 T A 11: 95,869,367 (GRCm38) H278L probably damaging Het
Bcl9l G T 9: 44,509,337 (GRCm38) A1347S probably benign Het
Bicd2 A G 13: 49,379,951 (GRCm38) E671G probably damaging Het
Bmp3 A T 5: 98,872,218 (GRCm38) I167F probably damaging Het
Bpifb5 T A 2: 154,230,185 (GRCm38) C271S possibly damaging Het
Camsap2 T A 1: 136,270,906 (GRCm38) H793L Het
Casp8ap2 T A 4: 32,643,974 (GRCm38) S1016T possibly damaging Het
Ccdc134 T A 15: 82,140,948 (GRCm38) I216N possibly damaging Het
Ccdc63 G T 5: 122,108,182 (GRCm38) R559S probably benign Het
Cd276 T C 9: 58,535,612 (GRCm38) T187A probably benign Het
Ciao1 C T 2: 127,245,758 (GRCm38) R219H probably damaging Het
Clmn T C 12: 104,785,428 (GRCm38) D256G possibly damaging Het
Cobl A C 11: 12,256,225 (GRCm38) M550R possibly damaging Het
Cracr2b A T 7: 141,464,205 (GRCm38) T117S probably benign Het
Cx3cr1 G A 9: 120,052,216 (GRCm38) A40V probably benign Het
Cxcl14 A G 13: 56,292,531 (GRCm38) C72R probably damaging Het
Dab2 T A 15: 6,422,266 (GRCm38) I121N probably damaging Het
Dapk1 A G 13: 60,751,176 (GRCm38) Y820C probably damaging Het
Ech1 T A 7: 28,826,198 (GRCm38) C91S probably damaging Het
Exosc5 T G 7: 25,659,309 (GRCm38) V25G probably benign Het
Fam160a1 G A 3: 85,672,564 (GRCm38) S778L probably benign Het
Fbp1 A C 13: 62,872,750 (GRCm38) D122E possibly damaging Het
Fbxw13 A G 9: 109,185,403 (GRCm38) Y101H unknown Het
Fmnl1 T A 11: 103,186,627 (GRCm38) V271E probably damaging Het
Fuk C T 8: 110,890,331 (GRCm38) G396S possibly damaging Het
Galnt1 T A 18: 24,284,809 (GRCm38) S545T probably benign Het
Galnt13 G A 2: 54,516,564 (GRCm38) V9M possibly damaging Het
Gatsl3 A G 11: 4,221,897 (GRCm38) S325G not run Het
Gm3550 A G 18: 34,737,527 (GRCm38) K38R probably damaging Het
Gm7995 A T 14: 42,310,345 (GRCm38) I45F Het
Gpr137 C T 19: 6,940,358 (GRCm38) R134Q possibly damaging Het
Gpr22 T G 12: 31,709,515 (GRCm38) I203L probably benign Het
H2-Q10 T C 17: 35,473,560 (GRCm38) Y324H not run Het
Hcn4 G A 9: 58,844,299 (GRCm38) E403K unknown Het
Hddc2 T A 10: 31,313,416 (GRCm38) M1K probably null Het
Hps3 A G 3: 20,035,165 (GRCm38) F34S probably damaging Het
Igdcc4 G T 9: 65,123,994 (GRCm38) V405L possibly damaging Het
Itpr2 C A 6: 146,329,508 (GRCm38) V1215L probably damaging Het
Kif26b T C 1: 178,914,774 (GRCm38) S812P probably damaging Het
Lgi1 T A 19: 38,301,265 (GRCm38) C260S probably damaging Het
Lhfp A G 3: 53,260,599 (GRCm38) Y198C probably damaging Het
Lrp5 T C 19: 3,649,439 (GRCm38) D282G probably benign Het
Lrpprc T C 17: 84,772,139 (GRCm38) T230A probably damaging Het
Lrtm2 A G 6: 119,320,823 (GRCm38) W86R probably benign Het
Magi2 G A 5: 20,358,956 (GRCm38) G199D probably damaging Het
Map1b C T 13: 99,508,140 (GRCm38) R85Q probably damaging Het
March7 T A 2: 60,247,514 (GRCm38) probably null Het
Morc1 A G 16: 48,431,345 (GRCm38) D2G probably damaging Het
Mpp7 A T 18: 7,351,079 (GRCm38) F539L probably damaging Het
Muc13 A T 16: 33,814,581 (GRCm38) I502F probably damaging Het
Myh13 A G 11: 67,364,460 (GRCm38) probably null Het
Nat10 C G 2: 103,748,045 (GRCm38) L238F probably damaging Het
Nckap1 G A 2: 80,524,541 (GRCm38) T679I probably damaging Het
Npy6r T A 18: 44,276,193 (GRCm38) I227N probably damaging Het
Nudt18 A T 14: 70,577,949 (GRCm38) M1L unknown Het
Olfr1306 T A 2: 111,912,292 (GRCm38) I213L probably benign Het
Olfr26 C A 9: 38,855,116 (GRCm38) T18K probably damaging Het
Olfr270 T A 4: 52,971,207 (GRCm38) N195K probably damaging Het
Olfr298 G A 7: 86,489,209 (GRCm38) T114I probably damaging Het
Olfr52 T C 2: 86,181,334 (GRCm38) Y259C probably damaging Het
Pcdha3 T A 18: 36,946,213 (GRCm38) F3I probably benign Het
Pcdhga3 T A 18: 37,675,864 (GRCm38) Y457N possibly damaging Het
Pclo A T 5: 14,669,617 (GRCm38) Q1256L unknown Het
Piezo2 C T 18: 63,024,472 (GRCm38) R2389H probably damaging Het
Pml G T 9: 58,247,213 (GRCm38) Q126K probably benign Het
Ppef2 A G 5: 92,228,704 (GRCm38) Y655H probably damaging Het
Ppp4r1 T C 17: 65,840,941 (GRCm38) V926A probably damaging Het
Psg29 A G 7: 17,211,723 (GRCm38) D406G possibly damaging Het
Ptprf T C 4: 118,235,667 (GRCm38) D517G probably benign Het
Ptprg G A 14: 12,142,461 (GRCm38) E371K probably benign Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Rasgrp1 T A 2: 117,291,697 (GRCm38) D404V possibly damaging Het
Rb1cc1 T A 1: 6,245,503 (GRCm38) F541I probably damaging Het
Rgsl1 C A 1: 153,844,101 (GRCm38) probably null Het
Rhobtb2 C T 14: 69,795,948 (GRCm38) W524* probably null Het
Rhox4d G A X: 37,518,992 (GRCm38) G191E unknown Het
Rims1 A G 1: 22,404,475 (GRCm38) S211P Het
Ripor2 A T 13: 24,670,071 (GRCm38) Q54L possibly damaging Het
Rnf213 A G 11: 119,481,291 (GRCm38) I4903V Het
Robo3 T A 9: 37,424,815 (GRCm38) I452F possibly damaging Het
Seh1l C T 18: 67,783,918 (GRCm38) H56Y probably damaging Het
Sidt1 A T 16: 44,286,400 (GRCm38) C222* probably null Het
Skor1 A G 9: 63,146,103 (GRCm38) F195L probably damaging Het
Slc44a2 A C 9: 21,348,346 (GRCm38) K596N possibly damaging Het
Smgc A G 15: 91,845,493 (GRCm38) K217E probably benign Het
Socs7 C A 11: 97,377,091 (GRCm38) H349Q possibly damaging Het
Speer4f2 A G 5: 17,376,542 (GRCm38) T161A Het
Spg11 T C 2: 122,093,545 (GRCm38) probably null Het
Ssb A G 2: 69,863,280 (GRCm38) T11A probably benign Het
Sun1 A G 5: 139,246,834 (GRCm38) S837G probably damaging Het
Szt2 A C 4: 118,363,471 (GRCm38) S3385A unknown Het
Tapbp T C 17: 33,920,417 (GRCm38) V129A possibly damaging Het
Thsd1 T C 8: 22,243,333 (GRCm38) I132T possibly damaging Het
Tm6sf2 T A 8: 70,077,939 (GRCm38) V223E possibly damaging Het
Tm9sf4 T A 2: 153,194,347 (GRCm38) M343K probably benign Het
Tmem57 A T 4: 134,828,279 (GRCm38) N294K possibly damaging Het
Trank1 C A 9: 111,366,349 (GRCm38) P1147Q probably benign Het
Trip4 G A 9: 65,866,475 (GRCm38) T275M probably damaging Het
Tsen34 T C 7: 3,695,835 (GRCm38) probably null Het
Ttc26 T A 6: 38,404,487 (GRCm38) Y319* probably null Het
Ttn T C 2: 76,850,078 (GRCm38) E1086G unknown Het
Ubr4 A T 4: 139,462,467 (GRCm38) M853L unknown Het
Ubxn11 A T 4: 134,125,155 (GRCm38) R352W probably damaging Het
Vmn1r35 G A 6: 66,679,235 (GRCm38) probably benign Het
Vmn2r107 C T 17: 20,375,732 (GRCm38) T849I probably benign Het
Vmn2r93 C A 17: 18,325,986 (GRCm38) L707I probably benign Het
Wwc1 G A 11: 35,875,706 (GRCm38) T574I probably benign Het
Zfp143 A G 7: 110,070,498 (GRCm38) M45V probably benign Het
Zfp518a T A 19: 40,914,157 (GRCm38) N843K possibly damaging Het
Zfp87 A T 13: 67,517,044 (GRCm38) M433K probably benign Het
Zfp873 C A 10: 82,060,627 (GRCm38) H397Q probably damaging Het
Zscan21 A T 5: 138,117,848 (GRCm38) probably benign Het
Other mutations in Sema3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Sema3b APN 9 107,604,041 (GRCm38) critical splice donor site probably null
IGL02750:Sema3b APN 9 107,603,164 (GRCm38) missense probably benign 0.02
IGL02878:Sema3b APN 9 107,600,993 (GRCm38) missense probably damaging 0.97
IGL03004:Sema3b APN 9 107,602,915 (GRCm38) missense possibly damaging 0.72
IGL03026:Sema3b APN 9 107,602,063 (GRCm38) missense probably damaging 1.00
IGL03129:Sema3b APN 9 107,599,796 (GRCm38) unclassified probably benign
IGL03334:Sema3b APN 9 107,604,077 (GRCm38) missense probably damaging 1.00
R0373:Sema3b UTSW 9 107,602,918 (GRCm38) missense probably benign 0.05
R0384:Sema3b UTSW 9 107,600,966 (GRCm38) missense probably damaging 1.00
R0883:Sema3b UTSW 9 107,604,156 (GRCm38) missense possibly damaging 0.77
R3916:Sema3b UTSW 9 107,600,458 (GRCm38) missense probably damaging 1.00
R3971:Sema3b UTSW 9 107,600,368 (GRCm38) missense probably benign
R4212:Sema3b UTSW 9 107,603,398 (GRCm38) missense probably damaging 1.00
R4647:Sema3b UTSW 9 107,599,051 (GRCm38) missense possibly damaging 0.79
R4694:Sema3b UTSW 9 107,605,002 (GRCm38) missense probably benign 0.03
R4791:Sema3b UTSW 9 107,603,813 (GRCm38) missense probably damaging 1.00
R4853:Sema3b UTSW 9 107,602,067 (GRCm38) splice site probably null
R5305:Sema3b UTSW 9 107,603,337 (GRCm38) missense probably null 1.00
R5487:Sema3b UTSW 9 107,600,962 (GRCm38) missense probably damaging 1.00
R5745:Sema3b UTSW 9 107,601,429 (GRCm38) missense probably damaging 0.98
R5751:Sema3b UTSW 9 107,599,714 (GRCm38) missense probably benign
R6086:Sema3b UTSW 9 107,600,848 (GRCm38) missense probably damaging 1.00
R6306:Sema3b UTSW 9 107,600,920 (GRCm38) missense possibly damaging 0.88
R6594:Sema3b UTSW 9 107,598,826 (GRCm38) missense probably benign 0.01
R6816:Sema3b UTSW 9 107,600,350 (GRCm38) missense probably benign 0.08
R6833:Sema3b UTSW 9 107,603,316 (GRCm38) missense probably benign 0.04
R7320:Sema3b UTSW 9 107,600,942 (GRCm38) missense probably benign
R7687:Sema3b UTSW 9 107,603,814 (GRCm38) missense probably damaging 1.00
R8839:Sema3b UTSW 9 107,601,353 (GRCm38) unclassified probably benign
R9090:Sema3b UTSW 9 107,598,955 (GRCm38) missense probably damaging 1.00
R9123:Sema3b UTSW 9 107,600,974 (GRCm38) missense possibly damaging 0.64
R9271:Sema3b UTSW 9 107,598,955 (GRCm38) missense probably damaging 1.00
R9442:Sema3b UTSW 9 107,601,758 (GRCm38) critical splice donor site probably null
R9682:Sema3b UTSW 9 107,603,814 (GRCm38) missense probably damaging 1.00
R9755:Sema3b UTSW 9 107,601,585 (GRCm38) missense probably damaging 1.00
Z1088:Sema3b UTSW 9 107,599,034 (GRCm38) splice site probably null
Z1176:Sema3b UTSW 9 107,599,639 (GRCm38) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GCCTCTGGCTCAGGGATTATAG -3'
(R):5'- CTCCTTATGACCCAAGGCATCG -3'

Sequencing Primer
(F):5'- TACATGGAGAGACTTCAATGTGGCTC -3'
(R):5'- GCTGAGTACCCCTTTGT -3'
Posted On 2019-10-07