Incidental Mutation 'IGL03331:Necap1'
ID416868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Necap1
Ensembl Gene ENSMUSG00000030327
Gene NameNECAP endocytosis associated 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.225) question?
Stock #IGL03331
Quality Score
Status
Chromosome6
Chromosomal Location122874474-122888941 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122880417 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 34 (S34T)
Ref Sequence ENSEMBL: ENSMUSP00000032477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032477]
PDB Structure
Solution structure of NECAP1 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000032477
AA Change: S34T

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: S34T

DomainStartEndE-ValueType
Pfam:DUF1681 7 164 1.5e-59 PFAM
low complexity region 182 200 N/A INTRINSIC
low complexity region 233 248 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203715
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 protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,513,865 D361Y probably damaging Het
Arhgap10 T C 8: 77,420,082 N231S probably damaging Het
Asb15 A T 6: 24,556,524 D6V possibly damaging Het
C1qb G A 4: 136,880,293 A253V probably damaging Het
Ccdc178 G T 18: 21,811,583 probably null Het
Chst15 A G 7: 132,262,713 L387P probably damaging Het
Clca3b T A 3: 144,827,963 E550D probably benign Het
Dnah5 A G 15: 28,419,940 K3795E probably damaging Het
Dppa2 T C 16: 48,313,879 probably benign Het
Epb41l5 T C 1: 119,617,419 Y220C probably damaging Het
Fkbpl C T 17: 34,645,687 T143I probably damaging Het
Gbe1 T G 16: 70,433,578 Y155D probably damaging Het
Gm1979 T C 5: 26,002,010 K69R probably damaging Het
Gna14 G A 19: 16,609,468 V336M probably damaging Het
Gpr37 A G 6: 25,669,729 V372A probably benign Het
Herc2 C A 7: 56,135,267 probably benign Het
Hist1h2bk T C 13: 22,036,273 probably benign Het
Krt20 T C 11: 99,435,430 probably null Het
Lman1 T C 18: 65,993,204 T284A probably benign Het
Matn2 A T 15: 34,345,357 D170V probably damaging Het
Morc1 C A 16: 48,612,368 probably benign Het
Nt5c3b T C 11: 100,436,215 Y85C probably damaging Het
Olfr1454 T A 19: 13,063,867 L152H probably damaging Het
Olfr720 C A 14: 14,176,017 A22S probably benign Het
Papln A G 12: 83,783,661 M1016V probably benign Het
Pld1 T C 3: 28,085,845 F605L probably damaging Het
Rbms2 T A 10: 128,133,635 probably benign Het
Rps6kb1 A T 11: 86,532,830 V108E probably damaging Het
Scap T C 9: 110,380,236 probably null Het
Serpina1f T C 12: 103,690,891 I307M probably benign Het
Tchh A G 3: 93,443,418 D55G probably damaging Het
Tnfaip3 G T 10: 19,011,601 Q59K possibly damaging Het
Vcan A G 13: 89,661,932 C2287R probably damaging Het
Vmn2r6 T C 3: 64,538,007 N766D probably damaging Het
Other mutations in Necap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0364:Necap1 UTSW 6 122880769 splice site probably benign
R0788:Necap1 UTSW 6 122881536 missense probably damaging 1.00
R1281:Necap1 UTSW 6 122874614 missense possibly damaging 0.72
R1842:Necap1 UTSW 6 122874588 missense probably damaging 1.00
R4367:Necap1 UTSW 6 122887378 missense probably damaging 0.99
R4455:Necap1 UTSW 6 122887369 missense possibly damaging 0.94
R5347:Necap1 UTSW 6 122880747 missense probably benign 0.01
R5570:Necap1 UTSW 6 122881512 missense probably damaging 0.99
R5881:Necap1 UTSW 6 122881544 missense probably benign 0.42
R6247:Necap1 UTSW 6 122880652 splice site probably null
Posted On2016-08-02