Incidental Mutation 'R4582:Nt5c1b'
ID 343748
Institutional Source Beutler Lab
Gene Symbol Nt5c1b
Ensembl Gene ENSMUSG00000020622
Gene Name 5'-nucleotidase, cytosolic IB
Synonyms 4921514H13Rik, CN-IB
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4582 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 10419973-10440175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10440054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 548 (M548K)
Ref Sequence ENSEMBL: ENSMUSP00000002456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000020947] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000219826] [ENSMUST00000218339] [ENSMUST00000218551] [ENSMUST00000218287] [ENSMUST00000218417] [ENSMUST00000219292] [ENSMUST00000218327] [ENSMUST00000219049] [ENSMUST00000220257] [ENSMUST00000223534] [ENSMUST00000220611]
AlphaFold Q91YE9
Predicted Effect probably damaging
Transcript: ENSMUST00000002456
AA Change: M548K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: M548K

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 570 1.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020947
SMART Domains Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621

DomainStartEndE-ValueType
transmembrane domain 2 21 N/A INTRINSIC
Pfam:KR 45 199 3.4e-10 PFAM
Pfam:adh_short 45 258 5.4e-34 PFAM
Pfam:Epimerase 47 248 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118657
AA Change: M530K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: M530K

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
low complexity region 135 143 N/A INTRINSIC
low complexity region 225 231 N/A INTRINSIC
Pfam:5-nucleotidase 280 553 7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147323
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 466 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217944
AA Change: M590K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000218026
Predicted Effect probably damaging
Transcript: ENSMUST00000219826
AA Change: M606K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218339
AA Change: M546K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000219630
AA Change: M404K
Predicted Effect unknown
Transcript: ENSMUST00000218288
AA Change: M469K
Predicted Effect probably benign
Transcript: ENSMUST00000218551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect probably benign
Transcript: ENSMUST00000218287
Predicted Effect probably benign
Transcript: ENSMUST00000218417
Predicted Effect probably benign
Transcript: ENSMUST00000219292
Predicted Effect probably benign
Transcript: ENSMUST00000218327
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect probably benign
Transcript: ENSMUST00000220257
Predicted Effect probably benign
Transcript: ENSMUST00000223534
AA Change: M532K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000220611
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A probably benign Het
Other mutations in Nt5c1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Nt5c1b APN 12 10,424,798 (GRCm39) missense probably benign 0.00
IGL01737:Nt5c1b APN 12 10,440,108 (GRCm39) missense possibly damaging 0.93
IGL02114:Nt5c1b APN 12 10,425,444 (GRCm39) missense probably damaging 1.00
IGL02131:Nt5c1b APN 12 10,425,491 (GRCm39) missense possibly damaging 0.75
IGL02135:Nt5c1b APN 12 10,427,194 (GRCm39) missense probably damaging 1.00
IGL02871:Nt5c1b APN 12 10,431,325 (GRCm39) missense probably damaging 1.00
IGL03003:Nt5c1b APN 12 10,424,910 (GRCm39) missense possibly damaging 0.90
IGL03327:Nt5c1b APN 12 10,424,861 (GRCm39) nonsense probably null
R0838:Nt5c1b UTSW 12 10,425,071 (GRCm39) nonsense probably null
R1340:Nt5c1b UTSW 12 10,427,276 (GRCm39) missense probably damaging 1.00
R1480:Nt5c1b UTSW 12 10,424,886 (GRCm39) missense probably damaging 1.00
R1599:Nt5c1b UTSW 12 10,440,024 (GRCm39) missense probably damaging 1.00
R1674:Nt5c1b UTSW 12 10,420,055 (GRCm39) start gained probably benign
R1691:Nt5c1b UTSW 12 10,425,537 (GRCm39) missense possibly damaging 0.95
R2237:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2238:Nt5c1b UTSW 12 10,440,108 (GRCm39) missense probably damaging 1.00
R2238:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2239:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2260:Nt5c1b UTSW 12 10,424,965 (GRCm39) missense probably damaging 1.00
R2424:Nt5c1b UTSW 12 10,420,072 (GRCm39) missense probably damaging 1.00
R3607:Nt5c1b UTSW 12 10,427,236 (GRCm39) missense probably damaging 1.00
R4276:Nt5c1b UTSW 12 10,424,886 (GRCm39) missense probably damaging 1.00
R4711:Nt5c1b UTSW 12 10,420,093 (GRCm39) missense probably damaging 1.00
R4775:Nt5c1b UTSW 12 10,425,449 (GRCm39) missense probably damaging 1.00
R5840:Nt5c1b UTSW 12 10,427,171 (GRCm39) missense probably damaging 1.00
R5940:Nt5c1b UTSW 12 10,425,515 (GRCm39) missense probably damaging 1.00
R6104:Nt5c1b UTSW 12 10,422,955 (GRCm39) missense probably damaging 1.00
R6329:Nt5c1b UTSW 12 10,422,138 (GRCm39) nonsense probably null
R6626:Nt5c1b UTSW 12 10,424,837 (GRCm39) nonsense probably null
R6722:Nt5c1b UTSW 12 10,422,874 (GRCm39) missense possibly damaging 0.48
R7424:Nt5c1b UTSW 12 10,431,391 (GRCm39) splice site probably null
R7491:Nt5c1b UTSW 12 10,424,903 (GRCm39) missense probably benign 0.00
R7714:Nt5c1b UTSW 12 10,425,472 (GRCm39) missense probably damaging 1.00
R8008:Nt5c1b UTSW 12 10,425,000 (GRCm39) missense possibly damaging 0.59
R8711:Nt5c1b UTSW 12 10,431,450 (GRCm39) missense probably damaging 1.00
R9302:Nt5c1b UTSW 12 10,430,882 (GRCm39) missense probably damaging 1.00
R9661:Nt5c1b UTSW 12 10,425,450 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGCTTTGCCCCATCAGGAC -3'
(R):5'- GCTTGACTGTAGCTTGAAAGTTC -3'

Sequencing Primer
(F):5'- CCTACCTGGTTACAGCTCGTAGTG -3'
(R):5'- CACCAAAGGAGCTAAGTTTTGTGGTC -3'
Posted On 2015-09-24