Incidental Mutation 'R8928:Nt5c1a'
ID 679665
Institutional Source Beutler Lab
Gene Symbol Nt5c1a
Ensembl Gene ENSMUSG00000054958
Gene Name 5'-nucleotidase, cytosolic IA
Synonyms Cn1a, LOC230718
MMRRC Submission 068772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8928 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 123095297-123110068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123102281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 69 (T69M)
Ref Sequence ENSEMBL: ENSMUSP00000069422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068262]
AlphaFold A3KFX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000068262
AA Change: T69M

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: T69M

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Pfam:5-nucleotidase 78 350 3.5e-109 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,867,367 (GRCm39) H198Q probably damaging Het
Abcb9 T C 5: 124,221,706 (GRCm39) T223A probably benign Het
Actc1 T A 2: 113,880,881 (GRCm39) K115* probably null Het
Angptl2 G A 2: 33,132,316 (GRCm39) D308N probably benign Het
Arl4d A C 11: 101,557,892 (GRCm39) Q139H possibly damaging Het
Aspm T A 1: 139,418,125 (GRCm39) C2951* probably null Het
Atp23 A T 10: 126,723,362 (GRCm39) *247R probably null Het
B3gnt7 T A 1: 86,232,839 (GRCm39) S28R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bmp7 C T 2: 172,721,211 (GRCm39) R288H probably damaging Het
Bsdc1 G T 4: 129,355,439 (GRCm39) probably benign Het
Ccdc146 T C 5: 21,538,060 (GRCm39) E88G probably damaging Het
Ccdc73 C A 2: 104,822,542 (GRCm39) D2E Het
Cdc5l C A 17: 45,721,839 (GRCm39) R477L Het
Cdh22 T A 2: 164,965,504 (GRCm39) H529L possibly damaging Het
Chchd3 T A 6: 32,780,951 (GRCm39) E178D probably benign Het
Ciz1 A T 2: 32,257,512 (GRCm39) R186* probably null Het
Copa T A 1: 171,931,737 (GRCm39) H329Q probably null Het
Dcaf7 A G 11: 105,942,752 (GRCm39) D233G probably damaging Het
Dclk2 G T 3: 86,739,048 (GRCm39) P317Q probably damaging Het
Dsc3 A T 18: 20,107,234 (GRCm39) H462Q probably benign Het
Fn1 T C 1: 71,638,535 (GRCm39) N1998S probably benign Het
Fpr2 T C 17: 18,113,724 (GRCm39) L240S possibly damaging Het
Fzd9 A T 5: 135,278,589 (GRCm39) M432K probably damaging Het
Gm5862 T A 5: 26,226,678 (GRCm39) I75F probably damaging Het
Gpr45 T A 1: 43,072,314 (GRCm39) V319D probably damaging Het
H4c11 T C 13: 21,919,525 (GRCm39) V87A possibly damaging Het
Igfn1 T A 1: 135,905,984 (GRCm39) R275W probably damaging Het
Inafm1 G A 7: 16,006,980 (GRCm39) A79V unknown Het
Itfg1 C T 8: 86,567,420 (GRCm39) probably benign Het
Klhl35 T G 7: 99,120,221 (GRCm39) I366S probably damaging Het
Lysmd1 A T 3: 95,045,831 (GRCm39) I223F probably damaging Het
Mrps30 A G 13: 118,523,205 (GRCm39) L189P probably damaging Het
Ms4a4d A C 19: 11,533,574 (GRCm39) T152P probably benign Het
Mtcl1 A T 17: 66,755,628 (GRCm39) I238K probably benign Het
Musk T C 4: 58,301,638 (GRCm39) I132T probably damaging Het
Myh2 A T 11: 67,079,509 (GRCm39) M989L probably benign Het
Myh8 G A 11: 67,174,081 (GRCm39) R172H probably benign Het
Nuak2 T A 1: 132,255,916 (GRCm39) D196E probably damaging Het
Or52h7 A T 7: 104,214,229 (GRCm39) H267L probably damaging Het
Or5ap2 A T 2: 85,679,918 (GRCm39) I41F possibly damaging Het
Or5t7 T C 2: 86,507,630 (GRCm39) T16A probably benign Het
Or8k53 T C 2: 86,178,090 (GRCm39) T7A possibly damaging Het
Palb2 A T 7: 121,723,821 (GRCm39) C643S probably damaging Het
Pde5a T A 3: 122,633,249 (GRCm39) I706N probably damaging Het
Pdlim4 T C 11: 53,950,790 (GRCm39) R100G probably benign Het
Pip5k1c T A 10: 81,128,906 (GRCm39) V5E possibly damaging Het
Pira1 A C 7: 3,742,358 (GRCm39) N56K probably benign Het
Plekhm1 A G 11: 103,268,039 (GRCm39) V644A probably benign Het
Plk2 T G 13: 110,535,750 (GRCm39) V524G probably damaging Het
Ppl T A 16: 4,905,474 (GRCm39) N1607I probably benign Het
Prag1 T G 8: 36,614,360 (GRCm39) V1304G probably damaging Het
Prex1 C T 2: 166,426,995 (GRCm39) V1077M probably damaging Het
Prmt6 T C 3: 110,158,248 (GRCm39) S14G probably benign Het
Psrc1 T G 3: 108,293,973 (GRCm39) S263R probably damaging Het
Qrfprl C A 6: 65,358,597 (GRCm39) S107* probably null Het
Rbp7 A T 4: 149,537,958 (GRCm39) L36* probably null Het
Rgs12 G T 5: 35,123,633 (GRCm39) W472L possibly damaging Het
Rrp8 C A 7: 105,384,073 (GRCm39) C143F possibly damaging Het
Sart1 T C 19: 5,438,529 (GRCm39) S43G probably benign Het
Setx A G 2: 29,016,971 (GRCm39) T25A possibly damaging Het
Skint5 G A 4: 113,341,099 (GRCm39) T1414I probably benign Het
Sorbs2 T A 8: 46,248,952 (GRCm39) S734R probably damaging Het
Spata31g1 A T 4: 42,972,251 (GRCm39) Y528F probably benign Het
Spon1 T C 7: 113,629,592 (GRCm39) probably null Het
Sptbn1 C T 11: 30,088,962 (GRCm39) V767I probably damaging Het
Srf T C 17: 46,860,095 (GRCm39) I477V probably damaging Het
Tanc2 A G 11: 105,701,331 (GRCm39) Y282C probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tdpoz6 T A 3: 93,599,950 (GRCm39) T140S probably benign Het
Tfap4 T C 16: 4,369,218 (GRCm39) D134G probably damaging Het
Tmem200c A G 17: 69,148,733 (GRCm39) T439A probably benign Het
Tmem63b A T 17: 45,975,908 (GRCm39) M515K probably damaging Het
Tnc A T 4: 63,925,595 (GRCm39) N980K probably damaging Het
Ttc23l T A 15: 10,530,720 (GRCm39) L297F probably damaging Het
Vinac1 A G 2: 128,882,789 (GRCm39) S76P Het
Vmn1r170 A G 7: 23,305,814 (GRCm39) N72S possibly damaging Het
Vmn2r8 T C 5: 108,950,131 (GRCm39) M239V Het
Vopp1 A G 6: 57,731,578 (GRCm39) F138L probably damaging Het
Vps41 T A 13: 18,929,501 (GRCm39) F79I probably benign Het
Zfp317 T C 9: 19,552,521 (GRCm39) M1T probably null Het
Other mutations in Nt5c1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Nt5c1a APN 4 123,109,962 (GRCm39) missense probably damaging 1.00
IGL02035:Nt5c1a APN 4 123,107,895 (GRCm39) missense possibly damaging 0.93
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
Predicted Primers PCR Primer
(F):5'- AATATCACAAGCTCCCGGAG -3'
(R):5'- AGTCATGTGATTGCCTCTGC -3'

Sequencing Primer
(F):5'- TACACAGGGAGCCAGTCTC -3'
(R):5'- GAGCTTCTGACAAAGGCA -3'
Posted On 2021-08-02