Incidental Mutation 'R7895:Sema4c'
ID 609568
Institutional Source Beutler Lab
Gene Symbol Sema4c
Ensembl Gene ENSMUSG00000026121
Gene Name sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
Synonyms M-Sema F, Semacl1, Semaf, Semai, Semacl1
MMRRC Submission 045947-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7895 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36587720-36597430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36592199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 216 (V216G)
Ref Sequence ENSEMBL: ENSMUSP00000110643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114991] [ENSMUST00000191642] [ENSMUST00000191677] [ENSMUST00000193382] [ENSMUST00000195339] [ENSMUST00000195620]
AlphaFold Q64151
Predicted Effect probably damaging
Transcript: ENSMUST00000114991
AA Change: V216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110643
Gene: ENSMUSG00000026121
AA Change: V216G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 53 481 2.54e-183 SMART
PSI 499 552 4.52e-11 SMART
IG 563 647 1.77e-4 SMART
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 754 774 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191642
AA Change: V216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142284
Gene: ENSMUSG00000026121
AA Change: V216G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 53 481 2.54e-183 SMART
PSI 499 552 4.52e-11 SMART
IG 563 647 1.77e-4 SMART
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 754 774 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191677
AA Change: V216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141263
Gene: ENSMUSG00000026121
AA Change: V216G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 53 481 2.54e-183 SMART
PSI 499 552 4.52e-11 SMART
IG 563 647 1.77e-4 SMART
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 754 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193382
Predicted Effect probably benign
Transcript: ENSMUST00000195339
Predicted Effect probably damaging
Transcript: ENSMUST00000195620
AA Change: V216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141527
Gene: ENSMUSG00000026121
AA Change: V216G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 53 481 2.54e-183 SMART
PSI 499 552 4.52e-11 SMART
IG 563 647 1.77e-4 SMART
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 754 774 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
MGI Phenotype FUNCTION: This gene encodes a member of the semaphorin family of proteins that have diverse functions in neuronal development, heart morphogenesis, vascular growth, tumor progression and immune cell regulation. Lack of the encoded protein in some mice causes exencephaly resulting in neonatal lethality. Mice that bypass exencephaly show no obvious behavioral defects but display distinct pigmentation defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit exencephaly, neonatal lethality, and abnormal cerebellum morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,295 (GRCm39) S143T probably benign Het
9030624G23Rik A T 12: 24,094,724 (GRCm39) M149K unknown Het
Aadacl4fm4 A T 4: 144,396,913 (GRCm39) I273K possibly damaging Het
Agpat3 T A 10: 78,119,034 (GRCm39) I187F probably benign Het
Ahcyl1 C T 3: 107,576,467 (GRCm39) A332T probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Ap5z1 T A 5: 142,456,313 (GRCm39) probably null Het
Apob A T 12: 8,061,933 (GRCm39) I3472F probably benign Het
Arhgef33 C T 17: 80,680,914 (GRCm39) P685S probably benign Het
Arhgef4 T C 1: 34,845,478 (GRCm39) I130T probably damaging Het
Arnt2 A T 7: 83,954,406 (GRCm39) F263I probably benign Het
Bbof1 A G 12: 84,466,763 (GRCm39) R177G probably damaging Het
Bbs2 C A 8: 94,807,764 (GRCm39) G372W probably damaging Het
Blmh T A 11: 76,836,721 (GRCm39) probably null Het
Ccdc30 A T 4: 119,209,910 (GRCm39) probably null Het
Cdca7l G T 12: 117,837,467 (GRCm39) L219F probably damaging Het
Cenpu C A 8: 47,015,499 (GRCm39) A138E probably benign Het
Cfap65 T A 1: 74,972,321 (GRCm39) T13S probably benign Het
Clasp2 A G 9: 113,733,016 (GRCm39) M951V probably benign Het
Clca4a A G 3: 144,674,166 (GRCm39) S190P probably benign Het
Clcn4 A G 7: 7,298,167 (GRCm39) V74A probably benign Het
Cntln C T 4: 84,981,561 (GRCm39) T913M possibly damaging Het
Cntnap4 T A 8: 113,478,829 (GRCm39) V185E probably damaging Het
Col26a1 C T 5: 136,777,031 (GRCm39) probably null Het
Ctcf A T 8: 106,390,690 (GRCm39) Q99L possibly damaging Het
Dgke T C 11: 88,931,682 (GRCm39) Q524R probably damaging Het
Dhrs7 A T 12: 72,699,234 (GRCm39) probably null Het
Dnah7b T C 1: 46,289,110 (GRCm39) Y2969H probably damaging Het
Dync1h1 T G 12: 110,582,891 (GRCm39) I358S probably damaging Het
Efcab3 A C 11: 105,008,150 (GRCm39) D410A probably benign Het
Emilin2 T C 17: 71,580,908 (GRCm39) D606G probably benign Het
Ermard C T 17: 15,283,875 (GRCm39) T622I possibly damaging Het
Exo1 A G 1: 175,728,562 (GRCm39) D542G probably benign Het
Fgd5 A T 6: 91,964,262 (GRCm39) D165V probably benign Het
Gdap1 T C 1: 17,231,368 (GRCm39) W238R probably damaging Het
Gm11096 T G 17: 81,749,328 (GRCm39) I7M unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gmppb A T 9: 107,927,770 (GRCm39) M175L probably benign Het
Gorasp2 G A 2: 70,514,442 (GRCm39) S273N probably benign Het
Gtf3c1 T C 7: 125,271,994 (GRCm39) M642V possibly damaging Het
Hmx2 T A 7: 131,157,600 (GRCm39) L238Q probably damaging Het
Kif13b A G 14: 64,973,598 (GRCm39) D316G probably damaging Het
Kmt2c A G 5: 25,578,174 (GRCm39) S701P possibly damaging Het
Lama4 T A 10: 38,964,325 (GRCm39) N1332K probably damaging Het
Lrp2 T C 2: 69,288,823 (GRCm39) D3681G probably damaging Het
Maml3 G T 3: 51,605,143 (GRCm39) P722Q probably damaging Het
Mier2 C A 10: 79,377,719 (GRCm39) probably benign Het
Ms4a15 A T 19: 10,956,694 (GRCm39) probably null Het
Msh5 T C 17: 35,263,355 (GRCm39) M158V probably benign Het
Nova2 A T 7: 18,676,270 (GRCm39) K136I Het
Npm1 A T 11: 33,106,001 (GRCm39) probably null Het
Nr4a3 T A 4: 48,051,390 (GRCm39) M48K probably benign Het
Nrap T G 19: 56,342,584 (GRCm39) T806P probably benign Het
Ntf3 G A 6: 126,079,203 (GRCm39) T101M probably benign Het
Or2aj4 G A 16: 19,385,472 (GRCm39) R54* probably null Het
Paxbp1 T A 16: 90,822,166 (GRCm39) D648V probably damaging Het
Pcdhb18 T A 18: 37,623,520 (GRCm39) D283E probably benign Het
Phrf1 C A 7: 140,839,288 (GRCm39) Q828K unknown Het
Pigq A T 17: 26,156,299 (GRCm39) I43N probably benign Het
Pou6f2 G T 13: 18,300,033 (GRCm39) T542K Het
Ppfibp2 T A 7: 107,320,524 (GRCm39) probably null Het
Rab1b A T 19: 5,150,524 (GRCm39) M163K probably benign Het
Ralgapa1 A G 12: 55,793,934 (GRCm39) M567T probably benign Het
Reck T C 4: 43,890,970 (GRCm39) V36A probably benign Het
Resp18 C T 1: 75,254,846 (GRCm39) D36N probably null Het
Rint1 A C 5: 24,005,720 (GRCm39) H134P probably damaging Het
Rps19 A T 7: 24,587,764 (GRCm39) K77M possibly damaging Het
Sec24b A T 3: 129,789,598 (GRCm39) S808T probably benign Het
Septin10 T A 10: 59,016,871 (GRCm39) T218S probably benign Het
Septin3 A T 15: 82,170,020 (GRCm39) H182L probably benign Het
Sipa1 A G 19: 5,702,690 (GRCm39) S836P probably benign Het
Slc9a5 A G 8: 106,089,998 (GRCm39) K652R probably damaging Het
Slco5a1 T A 1: 13,059,927 (GRCm39) I265F possibly damaging Het
Snapc5 T A 9: 64,086,614 (GRCm39) M1K probably null Het
Snx5 T A 2: 144,095,740 (GRCm39) D307V possibly damaging Het
Srebf2 A T 15: 82,061,441 (GRCm39) M381L probably benign Het
Ssh2 G C 11: 77,345,452 (GRCm39) E1146Q probably benign Het
Suco A T 1: 161,672,937 (GRCm39) probably null Het
Tanc2 T A 11: 105,812,651 (GRCm39) L1365Q probably damaging Het
Tas1r3 A G 4: 155,947,005 (GRCm39) L200P probably damaging Het
Thbs2 T G 17: 14,896,483 (GRCm39) D802A probably damaging Het
Trav3-1 G A 14: 52,818,550 (GRCm39) V75M probably benign Het
Trim9 G A 12: 70,301,961 (GRCm39) P559L probably benign Het
Trpc6 G A 9: 8,655,219 (GRCm39) G683D probably damaging Het
Unc5b C A 10: 60,615,509 (GRCm39) V164L possibly damaging Het
Usf3 A T 16: 44,036,565 (GRCm39) R348S possibly damaging Het
Vmn1r236 T C 17: 21,507,728 (GRCm39) V282A possibly damaging Het
Vmn2r1 A G 3: 63,997,130 (GRCm39) E262G possibly damaging Het
Xirp2 A G 2: 67,339,841 (GRCm39) E694G probably damaging Het
Xpo4 T A 14: 57,840,048 (GRCm39) H572L probably benign Het
Zfhx4 A G 3: 5,307,259 (GRCm39) T162A probably benign Het
Zfp110 T A 7: 12,571,020 (GRCm39) H59Q possibly damaging Het
Other mutations in Sema4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Sema4c APN 1 36,593,001 (GRCm39) critical splice donor site probably benign 0.00
IGL01824:Sema4c APN 1 36,592,110 (GRCm39) missense possibly damaging 0.76
IGL02236:Sema4c APN 1 36,592,166 (GRCm39) missense probably damaging 1.00
IGL02262:Sema4c APN 1 36,589,422 (GRCm39) missense probably damaging 1.00
IGL02282:Sema4c APN 1 36,589,284 (GRCm39) splice site probably null
IGL02476:Sema4c APN 1 36,595,031 (GRCm39) missense probably damaging 0.98
IGL02900:Sema4c APN 1 36,589,826 (GRCm39) nonsense probably null
swirl UTSW 1 36,589,392 (GRCm39) missense probably damaging 1.00
IGL02837:Sema4c UTSW 1 36,591,965 (GRCm39) missense probably damaging 1.00
R0427:Sema4c UTSW 1 36,592,892 (GRCm39) nonsense probably null
R0497:Sema4c UTSW 1 36,588,689 (GRCm39) missense probably benign 0.04
R1066:Sema4c UTSW 1 36,589,281 (GRCm39) missense possibly damaging 0.95
R1099:Sema4c UTSW 1 36,591,191 (GRCm39) missense probably damaging 1.00
R1146:Sema4c UTSW 1 36,589,646 (GRCm39) missense probably benign 0.04
R1146:Sema4c UTSW 1 36,589,646 (GRCm39) missense probably benign 0.04
R1639:Sema4c UTSW 1 36,592,615 (GRCm39) missense probably benign 0.00
R1644:Sema4c UTSW 1 36,589,885 (GRCm39) missense probably damaging 1.00
R3176:Sema4c UTSW 1 36,588,960 (GRCm39) missense possibly damaging 0.65
R3177:Sema4c UTSW 1 36,588,960 (GRCm39) missense possibly damaging 0.65
R3276:Sema4c UTSW 1 36,588,960 (GRCm39) missense possibly damaging 0.65
R3277:Sema4c UTSW 1 36,588,960 (GRCm39) missense possibly damaging 0.65
R3551:Sema4c UTSW 1 36,592,804 (GRCm39) missense probably benign 0.02
R4452:Sema4c UTSW 1 36,592,837 (GRCm39) missense probably benign 0.31
R4883:Sema4c UTSW 1 36,591,097 (GRCm39) missense probably damaging 0.98
R4895:Sema4c UTSW 1 36,592,651 (GRCm39) splice site probably null
R4913:Sema4c UTSW 1 36,589,266 (GRCm39) missense probably benign 0.11
R4944:Sema4c UTSW 1 36,589,392 (GRCm39) missense probably damaging 1.00
R5062:Sema4c UTSW 1 36,592,059 (GRCm39) critical splice donor site probably null
R5077:Sema4c UTSW 1 36,590,812 (GRCm39) missense probably benign 0.20
R5109:Sema4c UTSW 1 36,591,381 (GRCm39) frame shift probably null
R5208:Sema4c UTSW 1 36,589,407 (GRCm39) missense probably damaging 1.00
R5551:Sema4c UTSW 1 36,591,398 (GRCm39) missense probably damaging 1.00
R5912:Sema4c UTSW 1 36,593,469 (GRCm39) missense possibly damaging 0.83
R6578:Sema4c UTSW 1 36,589,834 (GRCm39) missense probably benign 0.02
R7111:Sema4c UTSW 1 36,592,160 (GRCm39) missense possibly damaging 0.48
R7141:Sema4c UTSW 1 36,592,101 (GRCm39) missense probably damaging 0.99
R7252:Sema4c UTSW 1 36,589,096 (GRCm39) missense probably damaging 1.00
R7495:Sema4c UTSW 1 36,589,774 (GRCm39) missense probably benign 0.00
R7891:Sema4c UTSW 1 36,588,995 (GRCm39) missense probably damaging 0.98
R8264:Sema4c UTSW 1 36,591,966 (GRCm39) missense probably damaging 1.00
R8478:Sema4c UTSW 1 36,590,871 (GRCm39) missense probably benign 0.04
R8680:Sema4c UTSW 1 36,589,867 (GRCm39) missense probably benign 0.00
R8733:Sema4c UTSW 1 36,591,954 (GRCm39) missense probably damaging 1.00
R9017:Sema4c UTSW 1 36,592,079 (GRCm39) missense probably damaging 1.00
R9344:Sema4c UTSW 1 36,592,395 (GRCm39) missense probably damaging 1.00
R9488:Sema4c UTSW 1 36,591,067 (GRCm39) missense probably benign
X0019:Sema4c UTSW 1 36,592,077 (GRCm39) missense probably damaging 1.00
X0028:Sema4c UTSW 1 36,589,047 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGAACGTCGTCCATTTCTTCTG -3'
(R):5'- CACAGAGCCGGTTATCCTTC -3'

Sequencing Primer
(F):5'- ATGTCACCCTGGCAGATGG -3'
(R):5'- AGAGCCGGTTATCCTTCGATACATG -3'
Posted On 2019-12-20