Incidental Mutation 'IGL02657:Sema4b'
ID 302366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema4b
Ensembl Gene ENSMUSG00000030539
Gene Name sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B
Synonyms SemC, Semac
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # IGL02657
Quality Score
Status
Chromosome 7
Chromosomal Location 79836589-79876275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79866789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 255 (G255D)
Ref Sequence ENSEMBL: ENSMUSP00000145622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000205822]
AlphaFold Q62179
Predicted Effect probably damaging
Transcript: ENSMUST00000032754
AA Change: G255D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: G255D

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Sema 57 494 8.07e-177 SMART
PSI 512 582 4.7e-9 SMART
low complexity region 626 639 N/A INTRINSIC
transmembrane domain 701 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107383
SMART Domains Protein: ENSMUSP00000103006
Gene: ENSMUSG00000030539

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Sema 57 494 8.07e-177 SMART
PSI 512 550 2.68e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123023
Predicted Effect probably damaging
Transcript: ENSMUST00000205822
AA Change: G255D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal cerebellar morphology. Mice homozygous for a knock-out allele exhibit enhanced memory response by way of increased IgE and IgG1 serum levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Sema4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Sema4b APN 7 79,865,444 (GRCm39) missense probably damaging 1.00
IGL02584:Sema4b APN 7 79,874,736 (GRCm39) missense probably benign
false_flag UTSW 7 79,848,402 (GRCm39) start codon destroyed probably null
R0114:Sema4b UTSW 7 79,868,826 (GRCm39) splice site probably benign
R0480:Sema4b UTSW 7 79,869,954 (GRCm39) missense probably damaging 1.00
R1184:Sema4b UTSW 7 79,874,388 (GRCm39) missense probably benign 0.27
R1545:Sema4b UTSW 7 79,868,771 (GRCm39) missense probably benign 0.02
R1687:Sema4b UTSW 7 79,869,010 (GRCm39) missense probably damaging 1.00
R1880:Sema4b UTSW 7 79,866,540 (GRCm39) missense probably damaging 0.96
R1881:Sema4b UTSW 7 79,866,540 (GRCm39) missense probably damaging 0.96
R2180:Sema4b UTSW 7 79,862,583 (GRCm39) missense probably benign 0.28
R2352:Sema4b UTSW 7 79,870,627 (GRCm39) missense probably damaging 0.99
R2424:Sema4b UTSW 7 79,869,023 (GRCm39) missense probably damaging 1.00
R3913:Sema4b UTSW 7 79,870,222 (GRCm39) missense probably benign
R4353:Sema4b UTSW 7 79,865,399 (GRCm39) missense probably damaging 1.00
R4757:Sema4b UTSW 7 79,866,577 (GRCm39) missense probably damaging 1.00
R4921:Sema4b UTSW 7 79,848,504 (GRCm39) missense possibly damaging 0.77
R5004:Sema4b UTSW 7 79,866,093 (GRCm39) missense probably benign 0.13
R5399:Sema4b UTSW 7 79,874,634 (GRCm39) missense probably benign
R5599:Sema4b UTSW 7 79,863,039 (GRCm39) missense probably benign 0.40
R5820:Sema4b UTSW 7 79,874,706 (GRCm39) missense probably damaging 0.99
R5840:Sema4b UTSW 7 79,868,697 (GRCm39) missense probably damaging 1.00
R5901:Sema4b UTSW 7 79,874,715 (GRCm39) missense possibly damaging 0.49
R6600:Sema4b UTSW 7 79,862,676 (GRCm39) missense probably benign 0.42
R6749:Sema4b UTSW 7 79,869,949 (GRCm39) missense possibly damaging 0.56
R6992:Sema4b UTSW 7 79,869,900 (GRCm39) missense probably damaging 0.97
R7175:Sema4b UTSW 7 79,848,402 (GRCm39) start codon destroyed probably null
R7660:Sema4b UTSW 7 79,869,995 (GRCm39) missense probably benign 0.01
R8345:Sema4b UTSW 7 79,870,567 (GRCm39) missense probably damaging 0.98
R8819:Sema4b UTSW 7 79,870,248 (GRCm39) missense probably damaging 1.00
R8820:Sema4b UTSW 7 79,870,248 (GRCm39) missense probably damaging 1.00
R8960:Sema4b UTSW 7 79,875,076 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16