Incidental Mutation 'R9702:Sema3c'
ID 729616
Institutional Source Beutler Lab
Gene Symbol Sema3c
Ensembl Gene ENSMUSG00000028780
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
Synonyms 1110036B02Rik, Semae
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9702 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 17574281-17730268 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17653830 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 76 (S76P)
Ref Sequence ENSEMBL: ENSMUSP00000030568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030568] [ENSMUST00000169603] [ENSMUST00000170181]
AlphaFold Q62181
Predicted Effect probably damaging
Transcript: ENSMUST00000030568
AA Change: S76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030568
Gene: ENSMUSG00000028780
AA Change: S76P

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 probably damaging
Transcript: ENSMUST00000169603
AA Change: S76P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132330
Gene: ENSMUSG00000028780
AA Change: S76P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Sema 54 226 9.6e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170181
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,216,552 Y746H probably damaging Het
Adgrv1 T A 13: 81,536,364 I1073F possibly damaging Het
Ankrd6 C T 4: 32,810,202 R493H possibly damaging Het
Apob G T 12: 8,007,559 A2014S probably damaging Het
Bdnf A T 2: 109,723,772 M164L possibly damaging Het
Ccdc187 C T 2: 26,282,210 V287M unknown Het
Cd164 G A 10: 41,528,822 R192Q probably damaging Het
Cd84 T C 1: 171,872,931 V205A probably benign Het
Cfap161 T A 7: 83,793,444 M54L probably benign Het
Crim1 T A 17: 78,374,087 V990E probably damaging Het
Dsc1 A G 18: 20,094,628 F518L probably benign Het
Esyt1 G A 10: 128,520,738 S346L probably damaging Het
Fbxo30 G T 10: 11,290,638 C368F probably benign Het
Gas2l3 C T 10: 89,414,081 A392T probably benign Het
Gfra4 T A 2: 131,042,619 S22C probably benign Het
Gm11992 T G 11: 9,056,568 V166G probably benign Het
Gm14085 T A 2: 122,523,531 I546N probably damaging Het
Gp1bb A T 16: 18,621,134 L70Q probably damaging Het
Gtf2i T C 5: 134,246,561 T707A probably benign Het
Inpp5f A C 7: 128,676,791 D435A possibly damaging Het
Kynu T A 2: 43,589,457 M121K probably damaging Het
Ldb3 A G 14: 34,577,133 V178A probably benign Het
Lrrc31 A G 3: 30,681,077 L350P probably damaging Het
Mfsd14b C A 13: 65,073,600 V293L probably benign Het
Mrps23 C T 11: 88,210,172 T121M probably damaging Het
Nlrp4c T A 7: 6,065,802 V234E probably benign Het
Olfr585 T C 7: 103,098,136 Y132H probably damaging Het
Pign A T 1: 105,557,487 D782E probably damaging Het
Rab11b C A 17: 33,749,052 R82L possibly damaging Het
Sobp T C 10: 43,021,948 N547S probably benign Het
Tigd3 G A 19: 5,892,808 T98M probably damaging Het
Tox T G 4: 6,697,418 M462L probably benign Het
Vmn1r158 T A 7: 22,790,640 Q48L probably benign Het
Vps8 A G 16: 21,644,133 T1383A probably benign Het
Vwa1 G A 4: 155,772,879 P154L probably damaging Het
Zfp108 C T 7: 24,260,770 T262I probably benign Het
Other mutations in Sema3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Sema3c APN 5 17694860 missense probably damaging 1.00
IGL01528:Sema3c APN 5 17714415 missense probably benign
IGL01618:Sema3c APN 5 17672506 missense probably damaging 1.00
IGL01730:Sema3c APN 5 17711436 missense probably benign 0.01
IGL01762:Sema3c APN 5 17694851 missense possibly damaging 0.81
IGL02049:Sema3c APN 5 17721925 splice site probably benign
IGL02249:Sema3c APN 5 17662963 missense probably damaging 1.00
IGL02657:Sema3c APN 5 17576868 start codon destroyed possibly damaging 0.71
IGL02657:Sema3c APN 5 17662974 missense probably damaging 1.00
IGL03213:Sema3c APN 5 17694639 splice site probably benign
PIT4651001:Sema3c UTSW 5 17694733 missense probably benign 0.37
R0031:Sema3c UTSW 5 17694728 missense probably damaging 1.00
R0558:Sema3c UTSW 5 17714415 missense probably benign 0.00
R0964:Sema3c UTSW 5 17721909 missense probably damaging 1.00
R1164:Sema3c UTSW 5 17678314 missense probably benign 0.40
R1351:Sema3c UTSW 5 17678336 missense possibly damaging 0.60
R1368:Sema3c UTSW 5 17678332 missense possibly damaging 0.96
R1480:Sema3c UTSW 5 17682031 missense possibly damaging 0.57
R1880:Sema3c UTSW 5 17727466 nonsense probably null
R1916:Sema3c UTSW 5 17727401 missense probably benign 0.06
R3934:Sema3c UTSW 5 17681940 missense probably damaging 0.97
R4284:Sema3c UTSW 5 17678347 missense probably benign 0.01
R4449:Sema3c UTSW 5 17576846 start gained probably benign
R4545:Sema3c UTSW 5 17694772 missense probably benign 0.01
R4546:Sema3c UTSW 5 17694772 missense probably benign 0.01
R4660:Sema3c UTSW 5 17672513 missense probably damaging 1.00
R4890:Sema3c UTSW 5 17675159 missense probably benign 0.00
R4937:Sema3c UTSW 5 17694686 missense probably benign 0.01
R5065:Sema3c UTSW 5 17727617 missense possibly damaging 0.89
R5145:Sema3c UTSW 5 17727617 missense possibly damaging 0.89
R5452:Sema3c UTSW 5 17717070 critical splice donor site probably null
R5586:Sema3c UTSW 5 17711424 missense probably damaging 0.99
R5811:Sema3c UTSW 5 17675190 splice site probably null
R5886:Sema3c UTSW 5 17681986 missense possibly damaging 0.90
R6120:Sema3c UTSW 5 17727632 missense probably benign 0.00
R6191:Sema3c UTSW 5 17653806 missense probably damaging 1.00
R6318:Sema3c UTSW 5 17672432 missense probably damaging 0.96
R6416:Sema3c UTSW 5 17576961 missense probably damaging 0.99
R6441:Sema3c UTSW 5 17724132 missense possibly damaging 0.96
R6816:Sema3c UTSW 5 17670465 missense probably benign 0.36
R7146:Sema3c UTSW 5 17694703 missense probably benign 0.22
R7526:Sema3c UTSW 5 17727596 missense possibly damaging 0.46
R7832:Sema3c UTSW 5 17694847 missense probably damaging 0.99
R8034:Sema3c UTSW 5 17727482 missense probably damaging 1.00
R8053:Sema3c UTSW 5 17655022 missense probably benign 0.00
R8076:Sema3c UTSW 5 17727364 missense probably benign 0.00
R8264:Sema3c UTSW 5 17676539 intron probably benign
R8359:Sema3c UTSW 5 17653728 missense possibly damaging 0.56
R8437:Sema3c UTSW 5 17662938 missense probably damaging 0.99
R9174:Sema3c UTSW 5 17663041 critical splice donor site probably null
R9295:Sema3c UTSW 5 17727497 missense probably benign 0.09
R9477:Sema3c UTSW 5 17716983 missense
R9599:Sema3c UTSW 5 17714454 critical splice donor site probably null
Z1176:Sema3c UTSW 5 17727519 missense probably benign 0.04
Z1177:Sema3c UTSW 5 17717031 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATTATAGAACCAACACACGCT -3'
(R):5'- ACACTTTAAACGAAATGGGAGGA -3'

Sequencing Primer
(F):5'- TTATAGAACCAACACACGCTCTTATC -3'
(R):5'- AAAATAACTTAGAGGGTGTGTGTGTG -3'
Posted On 2022-10-06