Incidental Mutation 'IGL02023:Npdc1'
ID184065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npdc1
Ensembl Gene ENSMUSG00000015094
Gene Nameneural proliferation, differentiation and control 1
SynonymsNPDC-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02023
Quality Score
Status
Chromosome2
Chromosomal Location25399351-25409494 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 25408020 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055921] [ENSMUST00000071442] [ENSMUST00000133409] [ENSMUST00000141567] [ENSMUST00000154809]
Predicted Effect probably benign
Transcript: ENSMUST00000055921
SMART Domains Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 341 9.1e-234 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071442
SMART Domains Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 332 7.2e-217 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132287
Predicted Effect probably benign
Transcript: ENSMUST00000133409
SMART Domains Protein: ENSMUSP00000117773
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 274 3.4e-163 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141106
Predicted Effect probably benign
Transcript: ENSMUST00000141567
SMART Domains Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 231 7.8e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156824
Predicted Effect probably benign
Transcript: ENSMUST00000154809
SMART Domains Protein: ENSMUSP00000123386
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 142 1.8e-88 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Npdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Npdc1 APN 2 25407637 missense possibly damaging 0.61
IGL02894:Npdc1 APN 2 25407995 missense probably benign 0.04
danke UTSW 2 25406245 missense probably damaging 1.00
grazie UTSW 2 25409108 missense probably damaging 0.98
R0650:Npdc1 UTSW 2 25408009 missense probably benign 0.16
R1136:Npdc1 UTSW 2 25407715 missense probably benign 0.09
R4008:Npdc1 UTSW 2 25408980 nonsense probably null
R4724:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4725:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4726:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4728:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4836:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4843:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R4882:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5108:Npdc1 UTSW 2 25408655 missense probably damaging 1.00
R5393:Npdc1 UTSW 2 25408670 missense probably damaging 1.00
R5572:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5573:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5574:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5605:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5630:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5632:Npdc1 UTSW 2 25408945 missense probably damaging 1.00
R5655:Npdc1 UTSW 2 25407680 missense possibly damaging 0.71
R6823:Npdc1 UTSW 2 25409109 missense probably damaging 1.00
R7151:Npdc1 UTSW 2 25409108 missense probably damaging 0.98
R7400:Npdc1 UTSW 2 25406245 missense probably damaging 1.00
Posted On2014-05-07