Incidental Mutation 'IGL01730:Sema3c'
ID 105425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3c
Ensembl Gene ENSMUSG00000028780
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
Synonyms Semae, 1110036B02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01730
Quality Score
Status
Chromosome 5
Chromosomal Location 17779814-17935266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17916434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 469 (S469G)
Ref Sequence ENSEMBL: ENSMUSP00000030568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030568]
AlphaFold Q62181
Predicted Effect probably benign
Transcript: ENSMUST00000030568
AA Change: S469G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: S469G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Sema 54 495 1.16e-200 SMART
PSI 513 565 2.87e-13 SMART
IG 577 662 7.08e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115271
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutation exhibit perinatal lethality, hypopigmentation and abnormal heart development. Mice homozygous for a knock-out allele exhibit prenatal lethality associated with heart defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,119,583 (GRCm39) E287G probably damaging Het
Bhmt A T 13: 93,761,917 (GRCm39) V122E probably damaging Het
Camta1 A G 4: 151,147,302 (GRCm39) I585T probably damaging Het
Cfap221 A G 1: 119,861,841 (GRCm39) S645P probably benign Het
Derl1 A T 15: 57,755,543 (GRCm39) F50Y possibly damaging Het
Dhrs3 T C 4: 144,646,042 (GRCm39) S117P probably damaging Het
E2f8 A T 7: 48,527,682 (GRCm39) probably benign Het
Fbn1 A T 2: 125,154,894 (GRCm39) probably benign Het
Fbxo15 A G 18: 84,982,299 (GRCm39) I250M probably benign Het
Ghr A T 15: 3,350,066 (GRCm39) S371T probably damaging Het
Gm5884 A T 6: 128,622,669 (GRCm39) noncoding transcript Het
Grhl2 T C 15: 37,338,018 (GRCm39) V496A probably benign Het
Gsap A G 5: 21,495,152 (GRCm39) probably benign Het
Irak3 T C 10: 120,014,005 (GRCm39) D148G probably benign Het
Itga2 A T 13: 114,990,947 (GRCm39) probably benign Het
Kif13b T C 14: 64,987,810 (GRCm39) probably null Het
Kif20b A T 19: 34,927,923 (GRCm39) K1022* probably null Het
Klhl17 G T 4: 156,316,157 (GRCm39) S399* probably null Het
Lcp2 A T 11: 34,000,943 (GRCm39) D42V possibly damaging Het
Lin7c G T 2: 109,726,785 (GRCm39) G145* probably null Het
Lrba A G 3: 86,648,731 (GRCm39) D2493G possibly damaging Het
Mobp A G 9: 119,996,992 (GRCm39) D41G probably damaging Het
Mycbp2 G A 14: 103,372,640 (GRCm39) Q785* probably null Het
Myl6b T C 10: 128,332,211 (GRCm39) Y85C possibly damaging Het
Nup133 G T 8: 124,664,972 (GRCm39) H240N probably benign Het
Or5b12 A C 19: 12,896,926 (GRCm39) F249C probably damaging Het
Plk4 T C 3: 40,760,285 (GRCm39) S394P probably benign Het
Prepl A G 17: 85,388,603 (GRCm39) Y167H possibly damaging Het
Prkab1 A G 5: 116,159,551 (GRCm39) L105P probably damaging Het
Ryr2 T A 13: 11,616,728 (GRCm39) I3897L possibly damaging Het
Serpinb3c T A 1: 107,200,914 (GRCm39) S168C probably damaging Het
Snapc4 A T 2: 26,253,736 (GRCm39) probably null Het
Sorcs2 A T 5: 36,205,153 (GRCm39) M528K probably damaging Het
Spink10 T A 18: 62,784,816 (GRCm39) probably null Het
Tent5b A T 4: 133,213,833 (GRCm39) probably null Het
Thsd7a C A 6: 12,554,980 (GRCm39) Q301H probably benign Het
Tmem135 A T 7: 88,797,252 (GRCm39) F335I possibly damaging Het
Tshr A T 12: 91,486,077 (GRCm39) D217V possibly damaging Het
Ttyh1 G A 7: 4,128,720 (GRCm39) V206M possibly damaging Het
Tusc3 T G 8: 39,617,880 (GRCm39) *348G probably null Het
Vmn2r76 G A 7: 85,879,406 (GRCm39) T298I probably benign Het
Wdr47 T C 3: 108,518,712 (GRCm39) F67L probably damaging Het
Other mutations in Sema3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Sema3c APN 5 17,899,858 (GRCm39) missense probably damaging 1.00
IGL01528:Sema3c APN 5 17,919,413 (GRCm39) missense probably benign
IGL01618:Sema3c APN 5 17,877,504 (GRCm39) missense probably damaging 1.00
IGL01762:Sema3c APN 5 17,899,849 (GRCm39) missense possibly damaging 0.81
IGL02049:Sema3c APN 5 17,926,923 (GRCm39) splice site probably benign
IGL02249:Sema3c APN 5 17,867,961 (GRCm39) missense probably damaging 1.00
IGL02657:Sema3c APN 5 17,867,972 (GRCm39) missense probably damaging 1.00
IGL02657:Sema3c APN 5 17,781,866 (GRCm39) start codon destroyed possibly damaging 0.71
IGL03213:Sema3c APN 5 17,899,637 (GRCm39) splice site probably benign
PIT4651001:Sema3c UTSW 5 17,899,731 (GRCm39) missense probably benign 0.37
R0031:Sema3c UTSW 5 17,899,726 (GRCm39) missense probably damaging 1.00
R0558:Sema3c UTSW 5 17,919,413 (GRCm39) missense probably benign 0.00
R0964:Sema3c UTSW 5 17,926,907 (GRCm39) missense probably damaging 1.00
R1164:Sema3c UTSW 5 17,883,312 (GRCm39) missense probably benign 0.40
R1351:Sema3c UTSW 5 17,883,334 (GRCm39) missense possibly damaging 0.60
R1368:Sema3c UTSW 5 17,883,330 (GRCm39) missense possibly damaging 0.96
R1480:Sema3c UTSW 5 17,887,029 (GRCm39) missense possibly damaging 0.57
R1880:Sema3c UTSW 5 17,932,464 (GRCm39) nonsense probably null
R1916:Sema3c UTSW 5 17,932,399 (GRCm39) missense probably benign 0.06
R3934:Sema3c UTSW 5 17,886,938 (GRCm39) missense probably damaging 0.97
R4284:Sema3c UTSW 5 17,883,345 (GRCm39) missense probably benign 0.01
R4449:Sema3c UTSW 5 17,781,844 (GRCm39) start gained probably benign
R4545:Sema3c UTSW 5 17,899,770 (GRCm39) missense probably benign 0.01
R4546:Sema3c UTSW 5 17,899,770 (GRCm39) missense probably benign 0.01
R4660:Sema3c UTSW 5 17,877,511 (GRCm39) missense probably damaging 1.00
R4890:Sema3c UTSW 5 17,880,157 (GRCm39) missense probably benign 0.00
R4937:Sema3c UTSW 5 17,899,684 (GRCm39) missense probably benign 0.01
R5065:Sema3c UTSW 5 17,932,615 (GRCm39) missense possibly damaging 0.89
R5145:Sema3c UTSW 5 17,932,615 (GRCm39) missense possibly damaging 0.89
R5452:Sema3c UTSW 5 17,922,068 (GRCm39) critical splice donor site probably null
R5586:Sema3c UTSW 5 17,916,422 (GRCm39) missense probably damaging 0.99
R5811:Sema3c UTSW 5 17,880,188 (GRCm39) splice site probably null
R5886:Sema3c UTSW 5 17,886,984 (GRCm39) missense possibly damaging 0.90
R6120:Sema3c UTSW 5 17,932,630 (GRCm39) missense probably benign 0.00
R6191:Sema3c UTSW 5 17,858,804 (GRCm39) missense probably damaging 1.00
R6318:Sema3c UTSW 5 17,877,430 (GRCm39) missense probably damaging 0.96
R6416:Sema3c UTSW 5 17,781,959 (GRCm39) missense probably damaging 0.99
R6441:Sema3c UTSW 5 17,929,130 (GRCm39) missense possibly damaging 0.96
R6816:Sema3c UTSW 5 17,875,463 (GRCm39) missense probably benign 0.36
R7146:Sema3c UTSW 5 17,899,701 (GRCm39) missense probably benign 0.22
R7526:Sema3c UTSW 5 17,932,594 (GRCm39) missense possibly damaging 0.46
R7832:Sema3c UTSW 5 17,899,845 (GRCm39) missense probably damaging 0.99
R8034:Sema3c UTSW 5 17,932,480 (GRCm39) missense probably damaging 1.00
R8053:Sema3c UTSW 5 17,860,020 (GRCm39) missense probably benign 0.00
R8076:Sema3c UTSW 5 17,932,362 (GRCm39) missense probably benign 0.00
R8264:Sema3c UTSW 5 17,881,537 (GRCm39) intron probably benign
R8359:Sema3c UTSW 5 17,858,726 (GRCm39) missense possibly damaging 0.56
R8437:Sema3c UTSW 5 17,867,936 (GRCm39) missense probably damaging 0.99
R9174:Sema3c UTSW 5 17,868,039 (GRCm39) critical splice donor site probably null
R9295:Sema3c UTSW 5 17,932,495 (GRCm39) missense probably benign 0.09
R9477:Sema3c UTSW 5 17,921,981 (GRCm39) missense
R9599:Sema3c UTSW 5 17,919,452 (GRCm39) critical splice donor site probably null
R9702:Sema3c UTSW 5 17,858,828 (GRCm39) missense probably damaging 1.00
Z1176:Sema3c UTSW 5 17,932,517 (GRCm39) missense probably benign 0.04
Z1177:Sema3c UTSW 5 17,922,029 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21