Incidental Mutation 'R4757:Sema4b'
ID 358240
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 041973-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R4757 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79836589-79876275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79866577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 219 (L219P)
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: L219P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: L219P

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: L219P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Abcb1a T A 5: 8,787,632 (GRCm39) V978D probably damaging Het
Acsm4 T C 7: 119,297,900 (GRCm39) V179A probably benign Het
Agtr1a C A 13: 30,565,842 (GRCm39) Y302* probably null Het
Akap9 T C 5: 4,058,382 (GRCm39) I1677T probably damaging Het
Ankk1 T A 9: 49,327,230 (GRCm39) M650L probably benign Het
Apod T A 16: 31,122,280 (GRCm39) N65Y probably damaging Het
Bcl2l1 T A 2: 152,624,178 (GRCm39) N197Y possibly damaging Het
Brpf1 A T 6: 113,292,072 (GRCm39) I373F probably damaging Het
Car13 T C 3: 14,726,615 (GRCm39) V257A probably damaging Het
Ccdc150 A T 1: 54,317,874 (GRCm39) H271L possibly damaging Het
Cit T A 5: 116,135,608 (GRCm39) I1836N probably damaging Het
Clec12b A G 6: 129,357,655 (GRCm39) S68P probably damaging Het
Col4a4 A G 1: 82,506,187 (GRCm39) F298L unknown Het
Crct1 G A 3: 92,922,093 (GRCm39) Q15* probably null Het
Creld1 A G 6: 113,469,208 (GRCm39) E346G probably benign Het
Ctnnal1 T A 4: 56,847,980 (GRCm39) H53L probably damaging Het
Cyb5d1 T C 11: 69,285,814 (GRCm39) D74G probably damaging Het
Deptor A T 15: 55,075,674 (GRCm39) S293C probably damaging Het
Dnajb12 A G 10: 59,728,592 (GRCm39) S187G probably benign Het
Duoxa2 G T 2: 122,131,072 (GRCm39) V78L possibly damaging Het
Fem1al A T 11: 29,775,454 (GRCm39) M1K probably null Het
Fhod1 C A 8: 106,074,443 (GRCm39) probably benign Het
Foxf2 C T 13: 31,810,172 (GRCm39) P37L unknown Het
Gabbr2 T C 4: 46,875,675 (GRCm39) N149S probably damaging Het
Gckr G T 5: 31,464,728 (GRCm39) M344I possibly damaging Het
Herc6 G A 6: 57,577,045 (GRCm39) probably null Het
Igf1 A T 10: 87,751,287 (GRCm39) E161V probably benign Het
Ighv8-13 T A 12: 115,729,268 (GRCm39) probably benign Het
Igkv6-14 A T 6: 70,412,426 (GRCm39) L12* probably null Het
Kpnb1 C T 11: 97,068,160 (GRCm39) S270N possibly damaging Het
Lingo1 A G 9: 56,527,209 (GRCm39) V460A probably benign Het
Lsm6 T C 8: 79,539,711 (GRCm39) probably null Het
Mccc1 C T 3: 36,050,066 (GRCm39) G42E probably benign Het
Mga A G 2: 119,734,120 (GRCm39) K323E possibly damaging Het
Mks1 A G 11: 87,753,850 (GRCm39) *562W probably null Het
Mrgpra4 T A 7: 47,630,686 (GRCm39) E305V probably damaging Het
Msh4 T A 3: 153,585,024 (GRCm39) H360L probably damaging Het
Mthfsd C T 8: 121,825,737 (GRCm39) probably null Het
Myl12a A T 17: 71,303,798 (GRCm39) F26L possibly damaging Het
Nedd4l A G 18: 65,298,676 (GRCm39) S343G probably damaging Het
Nlgn1 T A 3: 25,490,332 (GRCm39) D465V probably damaging Het
Nlgn1 C T 3: 25,490,507 (GRCm39) V407I possibly damaging Het
Npsr1 T C 9: 24,046,064 (GRCm39) V61A probably benign Het
Nrxn2 A G 19: 6,559,851 (GRCm39) D160G probably damaging Het
Or2p2 T C 13: 21,256,715 (GRCm39) Y252C probably damaging Het
Or52d3 T C 7: 104,229,404 (GRCm39) Y184H possibly damaging Het
Or5b107 A C 19: 13,143,277 (GRCm39) S300R probably benign Het
Or5b113 G T 19: 13,342,810 (GRCm39) A273S probably benign Het
Or9g4 A G 2: 85,504,664 (GRCm39) F277S probably damaging Het
Pbx1 C A 1: 168,023,450 (GRCm39) R235L probably damaging Het
Pcnx4 T C 12: 72,603,067 (GRCm39) V443A probably benign Het
Pde7b T C 10: 20,423,688 (GRCm39) T63A probably benign Het
Phf3 C T 1: 30,859,908 (GRCm39) G873D probably damaging Het
Phox2b A T 5: 67,256,197 (GRCm39) Y30N probably damaging Het
Plch2 T A 4: 155,080,690 (GRCm39) I599F possibly damaging Het
Plekha8 A G 6: 54,599,213 (GRCm39) E249G probably benign Het
Pou2af1 T A 9: 51,144,439 (GRCm39) Y118N possibly damaging Het
Ppp3cc T A 14: 70,455,635 (GRCm39) K489N possibly damaging Het
Slc6a5 T G 7: 49,609,030 (GRCm39) V745G probably benign Het
Slf2 A G 19: 44,923,497 (GRCm39) M104V probably benign Het
Slx1b A G 7: 126,291,701 (GRCm39) V121A probably benign Het
Speer4e2 T A 5: 15,026,222 (GRCm39) H145L probably benign Het
Spen T A 4: 141,200,390 (GRCm39) K2746* probably null Het
Stxbp5l T C 16: 37,008,996 (GRCm39) Y681C probably damaging Het
Sv2b T C 7: 74,773,918 (GRCm39) T518A probably benign Het
Tgm7 A T 2: 120,926,870 (GRCm39) H426Q possibly damaging Het
Tlx2 A G 6: 83,046,900 (GRCm39) F54S probably benign Het
Trp53bp2 A T 1: 182,286,339 (GRCm39) M1060L probably benign Het
Trpv5 T A 6: 41,630,148 (GRCm39) E647D probably damaging Het
Tut1 G T 19: 8,936,672 (GRCm39) K165N possibly damaging Het
Tyro3 A G 2: 119,641,419 (GRCm39) K543E probably damaging Het
Vmn2r69 T A 7: 85,061,575 (GRCm39) Y133F probably damaging Het
Zfhx4 T A 3: 5,465,122 (GRCm39) V1785D possibly damaging Het
Zfp451 A G 1: 33,804,939 (GRCm39) L1037P probably damaging Het
Zscan29 A T 2: 120,991,392 (GRCm39) F799I 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
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
Predicted Primers PCR Primer
(F):5'- AAGTCCCTGCTTCCGTCTAG -3'
(R):5'- AGATCTTATCATCATCACCTATGGG -3'

Sequencing Primer
(F):5'- CTTCCGTCTAGGCAGGATG -3'
(R):5'- ATCATCACCTATGGGGCTGC -3'
Posted On 2015-11-11