Incidental Mutation 'R8960:Sema4b'
ID 682280
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R8960 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79836589-79876275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79875076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 822 (V822E)
Ref Sequence ENSEMBL: ENSMUSP00000145622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000205822] [ENSMUST00000205996] [ENSMUST00000206084] [ENSMUST00000206802]
AlphaFold Q62179
Predicted Effect
SMART Domains Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: V822E

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 probably benign
Transcript: ENSMUST00000065163
SMART Domains Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538

DomainStartEndE-ValueType
low complexity region 84 100 N/A INTRINSIC
EFh 107 135 4.4e0 SMART
EFh 152 180 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071457
SMART Domains Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
EFh 59 87 4.4e0 SMART
EFh 104 132 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123279
SMART Domains Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
EFh 33 61 4.4e0 SMART
EFh 78 106 1.17e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205822
AA Change: V822E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205996
Predicted Effect probably benign
Transcript: ENSMUST00000206084
Predicted Effect probably benign
Transcript: ENSMUST00000206802
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,186,063 (GRCm39) Q603* probably null Het
Adar A G 3: 89,647,516 (GRCm39) Y165C probably damaging Het
Afp A G 5: 90,651,500 (GRCm39) T372A probably benign Het
Asah1 T A 8: 41,800,061 (GRCm39) L184F probably damaging Het
Bltp1 A G 3: 37,067,132 (GRCm39) E3548G probably damaging Het
Bpifb2 A T 2: 153,731,046 (GRCm39) I206F possibly damaging Het
Btn1a1 C A 13: 23,648,741 (GRCm39) D31Y possibly damaging Het
C4b T A 17: 34,952,892 (GRCm39) D1110V probably damaging Het
Ccdc162 T A 10: 41,429,178 (GRCm39) D1901V probably damaging Het
Cd101 A G 3: 100,910,817 (GRCm39) V947A probably benign Het
Cd55b A T 1: 130,338,375 (GRCm39) S238T possibly damaging Het
Cdc25c T C 18: 34,866,329 (GRCm39) I437V possibly damaging Het
Cfap97 T C 8: 46,623,605 (GRCm39) S332P probably damaging Het
Chpf A G 1: 75,452,398 (GRCm39) L352P probably damaging Het
Cntln T A 4: 85,018,961 (GRCm39) M1217K possibly damaging Het
Cntrl A G 2: 35,052,053 (GRCm39) E1629G possibly damaging Het
Csnk1g2 T C 10: 80,474,396 (GRCm39) Y206H probably damaging Het
Cyp2c55 T A 19: 38,995,547 (GRCm39) W20R probably null Het
Dhx35 A T 2: 158,657,393 (GRCm39) H130L possibly damaging Het
Dnm1 A G 2: 32,202,741 (GRCm39) V54A probably damaging Het
Eea1 T A 10: 95,864,381 (GRCm39) S967T probably benign Het
Efcab3 A G 11: 104,820,772 (GRCm39) probably benign Het
Elf3 A T 1: 135,182,813 (GRCm39) I304N probably damaging Het
Eps8l1 G T 7: 4,481,214 (GRCm39) R672L probably damaging Het
Fam163a A T 1: 155,954,862 (GRCm39) C96* probably null Het
Fancd2 T C 6: 113,540,129 (GRCm39) probably null Het
Fbxo3 C T 2: 103,858,274 (GRCm39) L23F possibly damaging Het
Fbxw14 A G 9: 109,114,367 (GRCm39) V121A possibly damaging Het
Fgd6 T A 10: 93,880,868 (GRCm39) V574D probably benign Het
Gask1b T C 3: 79,794,293 (GRCm39) S254P probably benign Het
Gbp11 A G 5: 105,479,251 (GRCm39) F124S probably damaging Het
Grin1 A T 2: 25,195,428 (GRCm39) probably benign Het
Grm2 T G 9: 106,531,345 (GRCm39) E48A probably benign Het
H2-M10.5 T A 17: 37,084,770 (GRCm39) Y165N probably benign Het
Hoxa13 A C 6: 52,236,976 (GRCm39) S172A probably benign Het
Ifih1 T A 2: 62,442,235 (GRCm39) K376N possibly damaging Het
Insrr C A 3: 87,720,386 (GRCm39) T1008K probably damaging Het
Itih1 A G 14: 30,655,414 (GRCm39) S594P probably damaging Het
Kidins220 T C 12: 25,106,914 (GRCm39) S1365P probably benign Het
Malrd1 A T 2: 15,570,241 (GRCm39) K158* probably null Het
Man2c1 G A 9: 57,045,279 (GRCm39) G504R probably damaging Het
Mbd1 T C 18: 74,406,890 (GRCm39) probably null Het
Micall2 G A 5: 139,702,025 (GRCm39) A323V probably benign Het
Mroh9 A C 1: 162,883,196 (GRCm39) F428V probably benign Het
Myo7b T A 18: 32,127,299 (GRCm39) probably benign Het
Niban1 A T 1: 151,591,463 (GRCm39) H535L possibly damaging Het
Obscn A T 11: 58,922,438 (GRCm39) V6567E probably damaging Het
Or1e28-ps1 A C 11: 73,615,230 (GRCm39) S207A unknown Het
Or1e33 A T 11: 73,738,167 (GRCm39) C261* probably null Het
Or2g25 T A 17: 37,970,760 (GRCm39) T155S probably benign Het
Or2y1d A T 11: 49,321,543 (GRCm39) Q80L probably benign Het
Or5h25 T A 16: 58,930,555 (GRCm39) R139S probably benign Het
Or8b53 A T 9: 38,667,385 (GRCm39) I134F possibly damaging Het
Pde4dip T C 3: 97,700,464 (GRCm39) D238G probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pgbd5 T A 8: 125,111,175 (GRCm39) Y172F probably benign Het
Pkd1 A G 17: 24,795,176 (GRCm39) T2288A probably damaging Het
Ppp6r2 T A 15: 89,137,239 (GRCm39) M1K probably null Het
Rc3h1 A G 1: 160,774,164 (GRCm39) T344A probably damaging Het
Rgs5 T C 1: 169,504,461 (GRCm39) V37A possibly damaging Het
Rgs9 A G 11: 109,139,815 (GRCm39) S17P possibly damaging Het
Rusc1 T A 3: 88,991,865 (GRCm39) D407V probably damaging Het
Rwdd1 T A 10: 33,895,383 (GRCm39) I18F possibly damaging Het
Satb2 C T 1: 56,910,470 (GRCm39) probably null Het
Sds A G 5: 120,621,659 (GRCm39) E267G probably damaging Het
Sfxn5 A T 6: 85,266,176 (GRCm39) M107K probably damaging Het
Slc5a8 C T 10: 88,722,035 (GRCm39) probably benign Het
Sorbs1 T C 19: 40,387,048 (GRCm39) D6G probably damaging Het
Syt14 A C 1: 192,666,515 (GRCm39) probably benign Het
Vmn2r124 T G 17: 18,283,291 (GRCm39) Y328* probably null Het
Vmn2r86 T A 10: 130,289,672 (GRCm39) E74D probably benign Het
Vmo1 A C 11: 70,404,476 (GRCm39) L175W probably damaging Het
Vps13a G T 19: 16,683,247 (GRCm39) L982I possibly damaging Het
Wdr19 T C 5: 65,398,211 (GRCm39) V812A probably benign Het
Wdr27 T C 17: 15,103,908 (GRCm39) I733V probably benign Het
Wdr54 A T 6: 83,132,739 (GRCm39) H38Q probably damaging Het
Wdr76 G A 2: 121,341,104 (GRCm39) V50I probably damaging Het
Zfp930 T A 8: 69,680,541 (GRCm39) N59K probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- ATAGTGCTACCACCTGAGACC -3'
(R):5'- GCTCAGTTAAGTAGCAGAGTTCTG -3'

Sequencing Primer
(F):5'- ACCGCTGAATGGTGTCG -3'
(R):5'- AGACAAGGACCCTCTGGC -3'
Posted On 2021-08-31