Incidental Mutation 'IGL00420:Sema4c'
ID7510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema4c
Ensembl Gene ENSMUSG00000026121
Gene Namesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SynonymsSemaf, Semacl1, M-Sema F, Semacl1, Semai
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00420
Quality Score
Status
Chromosome1
Chromosomal Location36548639-36558349 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (6 bp from exon)
DNA Base Change (assembly) A to G at 36553920 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000114991] [ENSMUST00000191642] [ENSMUST00000191677] [ENSMUST00000193382] [ENSMUST00000195339] [ENSMUST00000195620]
Predicted Effect probably benign
Transcript: ENSMUST00000114990
SMART Domains Protein: ENSMUSP00000110641
Gene: ENSMUSG00000026121

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: ENSMUST00000114991
SMART Domains Protein: ENSMUSP00000110643
Gene: ENSMUSG00000026121

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 noncoding transcript
Transcript: ENSMUST00000149224
Predicted Effect probably benign
Transcript: ENSMUST00000191642
SMART Domains Protein: ENSMUSP00000142284
Gene: ENSMUSG00000026121

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: ENSMUST00000191677
SMART Domains Protein: ENSMUSP00000141263
Gene: ENSMUSG00000026121

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 noncoding transcript
Transcript: ENSMUST00000191785
Predicted Effect probably benign
Transcript: ENSMUST00000193382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195160
Predicted Effect probably benign
Transcript: ENSMUST00000195339
Predicted Effect probably benign
Transcript: ENSMUST00000195620
SMART Domains Protein: ENSMUSP00000141527
Gene: ENSMUSG00000026121

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
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,777,602 S170T probably benign Het
Cep55 C A 19: 38,073,439 Q443K probably damaging Het
Ces1c T C 8: 93,106,673 E388G probably benign Het
Chd9 T C 8: 91,025,392 S1753P possibly damaging Het
Cse1l T A 2: 166,927,804 I343N probably damaging Het
Ctif T G 18: 75,437,176 M551L possibly damaging Het
Cyp2c29 A G 19: 39,321,699 probably benign Het
Filip1 G A 9: 79,817,944 T1131I probably damaging Het
Gm13941 G A 2: 111,091,848 probably benign Het
Klc3 T C 7: 19,396,295 E319G possibly damaging Het
Lonrf1 T C 8: 36,230,077 probably benign Het
Lrba A G 3: 86,359,782 E1593G probably benign Het
Mroh5 G A 15: 73,792,789 probably benign Het
Mthfr T A 4: 148,041,270 M20K probably benign Het
Nsd2 C A 5: 33,883,003 N960K possibly damaging Het
Osgin1 T A 8: 119,445,046 V193E probably damaging Het
Pced1a A T 2: 130,419,178 C420S probably benign Het
Pkd2l1 C T 19: 44,157,636 probably null Het
Plekhg5 C A 4: 152,102,041 probably null Het
Prkg2 A G 5: 99,024,541 V105A probably benign Het
Rab11fip3 A G 17: 26,067,625 I518T probably benign Het
Rapgef5 T A 12: 117,714,182 V150D probably damaging Het
Slc27a2 A G 2: 126,580,917 E354G probably damaging Het
Slc28a3 A T 13: 58,574,300 L257I probably benign Het
Slc2a8 G T 2: 32,973,624 Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 V519A possibly damaging Het
Slco6d1 A G 1: 98,432,230 probably null Het
Strap T C 6: 137,745,523 S219P probably damaging Het
Tjp1 T C 7: 65,301,219 I1636V probably benign Het
Tle1 G A 4: 72,169,118 R126C possibly damaging Het
Traf3 T A 12: 111,239,067 I94N probably damaging Het
Trps1 G T 15: 50,846,870 T28K probably benign Het
Unc13c T A 9: 73,736,703 T1160S probably damaging Het
Vapb G A 2: 173,778,171 V228M probably benign Het
Wdr3 A T 3: 100,148,108 D506E probably damaging Het
Zfp119a A T 17: 55,865,792 C350* probably null Het
Zfp51 A T 17: 21,463,452 M110L probably benign Het
Zfp687 G A 3: 95,012,416 A15V probably damaging Het
Zkscan6 A G 11: 65,828,461 T436A possibly damaging Het
Other mutations in Sema4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Sema4c APN 1 36553029 missense possibly damaging 0.76
IGL02236:Sema4c APN 1 36553085 missense probably damaging 1.00
IGL02262:Sema4c APN 1 36550341 missense probably damaging 1.00
IGL02282:Sema4c APN 1 36550203 unclassified probably null
IGL02476:Sema4c APN 1 36555950 missense probably damaging 0.98
IGL02900:Sema4c APN 1 36550745 nonsense probably null
swirl UTSW 1 36550311 missense probably damaging 1.00
IGL02837:Sema4c UTSW 1 36552884 missense probably damaging 1.00
R0427:Sema4c UTSW 1 36553811 nonsense probably null
R0497:Sema4c UTSW 1 36549608 missense probably benign 0.04
R1066:Sema4c UTSW 1 36550200 missense possibly damaging 0.95
R1099:Sema4c UTSW 1 36552110 missense probably damaging 1.00
R1146:Sema4c UTSW 1 36550565 missense probably benign 0.04
R1146:Sema4c UTSW 1 36550565 missense probably benign 0.04
R1639:Sema4c UTSW 1 36553534 missense probably benign 0.00
R1644:Sema4c UTSW 1 36550804 missense probably damaging 1.00
R3176:Sema4c UTSW 1 36549879 missense possibly damaging 0.65
R3177:Sema4c UTSW 1 36549879 missense possibly damaging 0.65
R3276:Sema4c UTSW 1 36549879 missense possibly damaging 0.65
R3277:Sema4c UTSW 1 36549879 missense possibly damaging 0.65
R3551:Sema4c UTSW 1 36553723 missense probably benign 0.02
R4452:Sema4c UTSW 1 36553756 missense probably benign 0.31
R4883:Sema4c UTSW 1 36552016 missense probably damaging 0.98
R4895:Sema4c UTSW 1 36553570 splice site probably null
R4913:Sema4c UTSW 1 36550185 missense probably benign 0.11
R4944:Sema4c UTSW 1 36550311 missense probably damaging 1.00
R5062:Sema4c UTSW 1 36552978 critical splice donor site probably null
R5077:Sema4c UTSW 1 36551731 missense probably benign 0.20
R5109:Sema4c UTSW 1 36552300 frame shift probably null
R5208:Sema4c UTSW 1 36550326 missense probably damaging 1.00
R5551:Sema4c UTSW 1 36552317 missense probably damaging 1.00
R5912:Sema4c UTSW 1 36554388 missense possibly damaging 0.83
R6578:Sema4c UTSW 1 36550753 missense probably benign 0.02
R7111:Sema4c UTSW 1 36553079 missense possibly damaging 0.48
R7141:Sema4c UTSW 1 36553020 missense probably damaging 0.99
R7252:Sema4c UTSW 1 36550015 missense probably damaging 1.00
X0019:Sema4c UTSW 1 36552996 missense probably damaging 1.00
X0028:Sema4c UTSW 1 36549966 missense possibly damaging 0.95
Posted On2012-04-20