Incidental Mutation 'IGL02035:Nt5c1a'
ID 184492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c1a
Ensembl Gene ENSMUSG00000054958
Gene Name 5'-nucleotidase, cytosolic IA
Synonyms Cn1a, LOC230718
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02035
Quality Score
Status
Chromosome 4
Chromosomal Location 123095297-123110068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123107895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 193 (S193C)
Ref Sequence ENSEMBL: ENSMUSP00000069422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068262]
AlphaFold A3KFX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000068262
AA Change: S193C

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: S193C

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Pfam:5-nucleotidase 78 350 3.5e-109 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,593,579 (GRCm39) I1135N probably benign Het
Atl1 A G 12: 70,007,318 (GRCm39) probably benign Het
Atr A G 9: 95,748,735 (GRCm39) N427D probably benign Het
Chd2 T C 7: 73,091,375 (GRCm39) probably null Het
Cnot4 A T 6: 35,047,186 (GRCm39) V142D probably damaging Het
Ctnnd1 A T 2: 84,450,425 (GRCm39) V265E probably damaging Het
Ddx27 G T 2: 166,871,432 (GRCm39) V510F probably benign Het
Elac2 A G 11: 64,892,661 (GRCm39) S822G probably benign Het
Fat3 A T 9: 16,289,266 (GRCm39) F86I probably benign Het
Fbn1 T A 2: 125,177,282 (GRCm39) probably null Het
Fgd4 C T 16: 16,308,280 (GRCm39) probably benign Het
Furin T C 7: 80,040,735 (GRCm39) E701G probably benign Het
Fzd2 A G 11: 102,497,270 (GRCm39) *571W probably null Het
Gm9 A T X: 36,474,544 (GRCm39) H3Q probably benign Het
Jak2 T C 19: 29,263,808 (GRCm39) V441A probably benign Het
Kcnj3 T A 2: 55,327,590 (GRCm39) N126K probably damaging Het
Lca5 T C 9: 83,305,365 (GRCm39) E147G probably damaging Het
Magt1 G T X: 105,027,382 (GRCm39) probably null Het
Nkx6-2 A T 7: 139,161,601 (GRCm39) W195R probably damaging Het
Or6c216 A G 10: 129,678,659 (GRCm39) L84P possibly damaging Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pecam1 C T 11: 106,586,685 (GRCm39) A277T probably benign Het
Polr1c A G 17: 46,557,085 (GRCm39) V66A possibly damaging Het
Proser1 T C 3: 53,386,251 (GRCm39) V711A probably benign Het
Prr35 G T 17: 26,166,136 (GRCm39) H384N probably benign Het
Sbp A G 17: 24,161,586 (GRCm39) N19S possibly damaging Het
Sh3bp4 A G 1: 89,071,412 (GRCm39) T87A probably benign Het
Vmn1r59 A T 7: 5,457,208 (GRCm39) I184N possibly damaging Het
Zcchc14 T C 8: 122,331,354 (GRCm39) probably benign Het
Other mutations in Nt5c1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Nt5c1a APN 4 123,109,962 (GRCm39) missense probably damaging 1.00
IGL02437:Nt5c1a APN 4 123,108,034 (GRCm39) missense probably benign 0.25
IGL02877:Nt5c1a APN 4 123,109,867 (GRCm39) missense probably damaging 1.00
R1628:Nt5c1a UTSW 4 123,102,284 (GRCm39) missense possibly damaging 0.65
R2273:Nt5c1a UTSW 4 123,109,873 (GRCm39) missense probably damaging 1.00
R2275:Nt5c1a UTSW 4 123,109,873 (GRCm39) missense probably damaging 1.00
R4433:Nt5c1a UTSW 4 123,109,689 (GRCm39) missense probably benign 0.01
R4826:Nt5c1a UTSW 4 123,102,365 (GRCm39) missense probably damaging 1.00
R5328:Nt5c1a UTSW 4 123,102,786 (GRCm39) missense possibly damaging 0.90
R5690:Nt5c1a UTSW 4 123,109,732 (GRCm39) missense probably damaging 1.00
R5883:Nt5c1a UTSW 4 123,110,049 (GRCm39) splice site probably null
R7162:Nt5c1a UTSW 4 123,107,898 (GRCm39) missense probably benign
R7390:Nt5c1a UTSW 4 123,102,272 (GRCm39) missense probably benign 0.01
R7823:Nt5c1a UTSW 4 123,102,365 (GRCm39) missense probably damaging 1.00
R7951:Nt5c1a UTSW 4 123,105,978 (GRCm39) missense probably benign 0.02
R8121:Nt5c1a UTSW 4 123,102,235 (GRCm39) missense probably damaging 1.00
R8265:Nt5c1a UTSW 4 123,107,953 (GRCm39) missense possibly damaging 0.90
R8927:Nt5c1a UTSW 4 123,102,281 (GRCm39) missense possibly damaging 0.51
R8928:Nt5c1a UTSW 4 123,102,281 (GRCm39) missense possibly damaging 0.51
Posted On 2014-05-07