Incidental Mutation 'IGL00780:Sema3d'
ID13959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3d
Ensembl Gene ENSMUSG00000040254
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
Synonyms4631426B19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00780
Quality Score
Status
Chromosome5
Chromosomal Location12383385-12588948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 12524326 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 265 (R265Q)
Ref Sequence ENSEMBL: ENSMUSP00000142453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030868] [ENSMUST00000197927]
Predicted Effect probably damaging
Transcript: ENSMUST00000030868
AA Change: R265Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030868
Gene: ENSMUSG00000040254
AA Change: R265Q

DomainStartEndE-ValueType
transmembrane domain 16 35 N/A INTRINSIC
Sema 70 515 2.97e-207 SMART
PSI 533 585 2.03e-13 SMART
IG 598 682 1.39e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196618
Predicted Effect probably damaging
Transcript: ENSMUST00000197927
AA Change: R265Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142453
Gene: ENSMUSG00000040254
AA Change: R265Q

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Sema 70 515 1e-209 SMART
PSI 533 585 8.5e-16 SMART
Blast:Sema 590 622 1e-9 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pulmonary vein connection to the right atrium and atrial septal defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dach1 A T 14: 97,901,422 N528K possibly damaging Het
Dag1 A T 9: 108,209,619 W108R probably damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Grb14 G A 2: 64,914,718 P99S probably damaging Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Poldip3 C T 15: 83,138,479 G35R probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Rdh16f2 T C 10: 127,875,092 probably null Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Sema3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Sema3d APN 5 12563222 missense probably benign 0.01
IGL00582:Sema3d APN 5 12585195 missense probably damaging 1.00
IGL00661:Sema3d APN 5 12505839 missense probably damaging 1.00
IGL01531:Sema3d APN 5 12541080 missense probably benign
IGL01957:Sema3d APN 5 12563315 missense probably damaging 1.00
IGL02100:Sema3d APN 5 12584991 missense probably benign 0.29
IGL02676:Sema3d APN 5 12570978 missense probably benign 0.38
IGL02749:Sema3d APN 5 12563145 splice site probably benign
IGL02827:Sema3d APN 5 12585118 missense probably benign 0.04
IGL03325:Sema3d APN 5 12463222 missense probably damaging 0.99
R0050:Sema3d UTSW 5 12584953 missense probably benign 0.00
R0085:Sema3d UTSW 5 12570986 missense probably benign 0.00
R0095:Sema3d UTSW 5 12563347 missense probably damaging 1.00
R0157:Sema3d UTSW 5 12508137 missense possibly damaging 0.95
R0328:Sema3d UTSW 5 12448075 missense possibly damaging 0.48
R0924:Sema3d UTSW 5 12463216 missense possibly damaging 0.69
R0930:Sema3d UTSW 5 12463216 missense possibly damaging 0.69
R1609:Sema3d UTSW 5 12541056 missense probably damaging 1.00
R1657:Sema3d UTSW 5 12584974 missense possibly damaging 0.82
R1669:Sema3d UTSW 5 12508084 splice site probably benign
R1795:Sema3d UTSW 5 12584887 missense probably benign 0.02
R1861:Sema3d UTSW 5 12497603 missense probably benign 0.00
R1889:Sema3d UTSW 5 12485021 splice site probably null
R1895:Sema3d UTSW 5 12573843 missense probably damaging 1.00
R1946:Sema3d UTSW 5 12573843 missense probably damaging 1.00
R1975:Sema3d UTSW 5 12563318 missense probably damaging 1.00
R1975:Sema3d UTSW 5 12584998 missense probably benign
R2117:Sema3d UTSW 5 12563273 missense probably benign
R2148:Sema3d UTSW 5 12484959 missense probably damaging 0.99
R2276:Sema3d UTSW 5 12542582 missense possibly damaging 0.63
R3761:Sema3d UTSW 5 12571037 missense probably damaging 1.00
R4063:Sema3d UTSW 5 12585124 missense probably benign 0.25
R4428:Sema3d UTSW 5 12448120 missense probably benign 0.32
R4903:Sema3d UTSW 5 12563158 missense probably benign 0.00
R4999:Sema3d UTSW 5 12508087 splice site probably null
R5000:Sema3d UTSW 5 12448038 missense probably benign 0.01
R5022:Sema3d UTSW 5 12584956 missense probably damaging 1.00
R5186:Sema3d UTSW 5 12584908 missense probably benign
R5584:Sema3d UTSW 5 12566008 missense possibly damaging 0.49
R5584:Sema3d UTSW 5 12570987 missense possibly damaging 0.73
R6270:Sema3d UTSW 5 12448107 missense probably benign
R6368:Sema3d UTSW 5 12571013 missense probably damaging 1.00
R6426:Sema3d UTSW 5 12563264 missense probably damaging 1.00
R6750:Sema3d UTSW 5 12585100 nonsense probably null
Posted On2012-12-06