Incidental Mutation 'IGL01678:Nit1'
ID103718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nit1
Ensembl Gene ENSMUSG00000013997
Gene Namenitrilase 1
SynonymsESTM30
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.488) question?
Stock #IGL01678
Quality Score
Status
Chromosome1
Chromosomal Location171338008-171345646 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 171342694 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 270 (V270A)
Ref Sequence ENSEMBL: ENSMUSP00000106926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000111300] [ENSMUST00000127830] [ENSMUST00000129116] [ENSMUST00000135150] [ENSMUST00000135941] [ENSMUST00000142063] [ENSMUST00000148339] [ENSMUST00000156856] [ENSMUST00000157015]
Predicted Effect probably benign
Transcript: ENSMUST00000006579
SMART Domains Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Prefoldin_2 18 93 3e-24 PFAM
low complexity region 102 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064950
SMART Domains Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097467
SMART Domains Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111289
AA Change: V237A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106920
Gene: ENSMUSG00000013997
AA Change: V237A

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 191 1.6e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111295
AA Change: V270A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106926
Gene: ENSMUSG00000013997
AA Change: V270A

DomainStartEndE-ValueType
Pfam:CN_hydrolase 44 224 6.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111296
SMART Domains Protein: ENSMUSP00000106927
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 44 224 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111299
SMART Domains Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111300
SMART Domains Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127830
SMART Domains Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129116
SMART Domains Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131653
Predicted Effect probably benign
Transcript: ENSMUST00000135150
Predicted Effect probably benign
Transcript: ENSMUST00000135941
SMART Domains Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:Prefoldin_2 24 129 3.3e-32 PFAM
low complexity region 139 150 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141357
Predicted Effect probably benign
Transcript: ENSMUST00000142063
SMART Domains Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973

DomainStartEndE-ValueType
DED 24 103 1.34e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146428
Predicted Effect probably benign
Transcript: ENSMUST00000148339
SMART Domains Protein: ENSMUSP00000119171
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 87 8.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156856
SMART Domains Protein: ENSMUSP00000116835
Gene: ENSMUSG00000013997

DomainStartEndE-ValueType
Pfam:CN_hydrolase 11 131 5.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000157015
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 nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-out allele exhibit increased incidence of N-nitrosomethylbenzylamine (NMBA)-induced tumors in the forestomach (papillomas and dysplasias). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Angel1 T C 12: 86,717,026 E500G probably benign Het
Car9 T C 4: 43,512,941 probably benign Het
Colec11 A G 12: 28,594,868 F209S probably damaging Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Ftmt A T 18: 52,332,134 H174L probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gm960 T A 19: 4,672,165 I76L possibly damaging Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Zmat4 T A 8: 23,902,048 C7S probably damaging Het
Other mutations in Nit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4826:Nit1 UTSW 1 171345598 utr 5 prime probably benign
R4884:Nit1 UTSW 1 171343695 missense probably null 0.65
R6855:Nit1 UTSW 1 171343562 missense probably damaging 0.98
R7196:Nit1 UTSW 1 171344435 missense probably benign 0.00
Posted On2014-01-21