Incidental Mutation 'R6749:Sema4b'
ID 532888
Institutional Source Beutler Lab
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
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R6749 (G1)
Quality Score 136.008
Status Validated
Chromosome 7
Chromosomal Location 79836589-79876275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79869949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 412 (D412E)
Ref Sequence ENSEMBL: ENSMUSP00000145622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000205822]
AlphaFold Q62179
Predicted Effect possibly damaging
Transcript: ENSMUST00000032754
AA Change: D412E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: D412E

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 possibly damaging
Transcript: ENSMUST00000205822
AA Change: D412E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign 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
IGL02657:Sema4b APN 7 79,866,789 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGCCTTTGGACCAGCACAG -3'
(R):5'- CTACCAGCCATGCATGTATTG -3'

Sequencing Primer
(F):5'- GAAAGGCAGATGTTCCATGATTTCTG -3'
(R):5'- GCATGTATTGCCCTCCTTAAC -3'
Posted On 2018-08-29