Incidental Mutation 'IGL03003:Nt5c1b'
ID 407414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c1b
Ensembl Gene ENSMUSG00000020622
Gene Name 5'-nucleotidase, cytosolic IB
Synonyms 4921514H13Rik, CN-IB
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03003
Quality Score
Status
Chromosome 12
Chromosomal Location 10369973-10390175 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10374910 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 210 (A210V)
Ref Sequence ENSEMBL: ENSMUSP00000151627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000143739] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218551] [ENSMUST00000218417] [ENSMUST00000219292] [ENSMUST00000219049] [ENSMUST00000220611] [ENSMUST00000220257] [ENSMUST00000219826] [ENSMUST00000223534]
AlphaFold Q91YE9
Predicted Effect probably benign
Transcript: ENSMUST00000002456
AA Change: A152V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: A152V

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: ENSMUST00000118657
AA Change: A150V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: A150V

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 unknown
Transcript: ENSMUST00000143739
AA Change: A152V
SMART Domains Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: A152V

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147323
AA Change: A152V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: A152V

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: A210V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218026
AA Change: A152V

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect probably benign
Transcript: ENSMUST00000218287
AA Change: A210V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect unknown
Transcript: ENSMUST00000218288
AA Change: A97V
Predicted Effect probably benign
Transcript: ENSMUST00000218327
AA Change: A150V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218339
AA Change: A150V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000218551
AA Change: A152V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000218417
AA Change: A210V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219292
AA Change: A152V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000219049
AA Change: A152V
Predicted Effect unknown
Transcript: ENSMUST00000219630
AA Change: A41V
Predicted Effect probably benign
Transcript: ENSMUST00000220611
AA Change: A152V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220257
AA Change: A210V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219826
AA Change: A210V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223534
AA Change: A152V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,743,772 (GRCm38) P577L probably damaging Het
Aff3 A T 1: 38,209,570 (GRCm38) S819T probably damaging Het
Aftph G T 11: 20,726,982 (GRCm38) S209* probably null Het
Astn1 T A 1: 158,612,395 (GRCm38) D844E probably benign Het
Cc2d2a A G 5: 43,671,266 (GRCm38) K29E probably benign Het
Ccdc93 T C 1: 121,463,117 (GRCm38) S273P possibly damaging Het
Cd200r3 G T 16: 44,943,775 (GRCm38) M1I probably null Het
Cd200r3 C A 16: 44,943,776 (GRCm38) H2N probably benign Het
Col7a1 G A 9: 108,974,956 (GRCm38) probably null Het
Cyp3a41a T A 5: 145,705,830 (GRCm38) M240L probably benign Het
D430042O09Rik A T 7: 125,851,960 (GRCm38) I1088F probably damaging Het
Dcstamp T C 15: 39,754,510 (GRCm38) V105A possibly damaging Het
Dmbt1 C A 7: 131,082,679 (GRCm38) P635Q probably benign Het
Dsg1a T A 18: 20,336,819 (GRCm38) M634K probably benign Het
Farp2 T C 1: 93,567,418 (GRCm38) Y138H probably damaging Het
Fga T C 3: 83,032,730 (GRCm38) S564P probably damaging Het
Gbf1 T C 19: 46,255,655 (GRCm38) L142S probably damaging Het
Gm5422 T C 10: 31,250,844 (GRCm38) noncoding transcript Het
Helz2 A G 2: 181,240,253 (GRCm38) V249A probably damaging Het
Hmcn2 C A 2: 31,433,486 (GRCm38) T4204K probably damaging Het
Ift81 T C 5: 122,594,662 (GRCm38) I270V probably benign Het
Kif6 C T 17: 49,753,871 (GRCm38) R411* probably null Het
Klhl35 T A 7: 99,470,343 (GRCm38) V345D probably damaging Het
Mcm3ap C A 10: 76,504,697 (GRCm38) D1531E probably benign Het
Muc5b C A 7: 141,863,614 (GRCm38) D3432E probably benign Het
Nipbl A T 15: 8,350,314 (GRCm38) V998D probably damaging Het
Nlrc3 C A 16: 3,964,862 (GRCm38) V228L probably benign Het
Nrap T C 19: 56,321,952 (GRCm38) H1456R probably damaging Het
Olfr364-ps1 T C 2: 37,146,452 (GRCm38) V80A probably benign Het
Olfr46 A G 7: 140,610,370 (GRCm38) Y60C probably damaging Het
Osbpl7 T C 11: 97,050,695 (GRCm38) Y15H probably benign Het
Pde8b T A 13: 95,041,957 (GRCm38) N552Y probably damaging Het
Pi4kb T A 3: 94,984,812 (GRCm38) S280T probably benign Het
Pkd1 T A 17: 24,593,603 (GRCm38) probably null Het
Polh A T 17: 46,194,366 (GRCm38) V108E possibly damaging Het
Prob1 A G 18: 35,653,375 (GRCm38) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,583 (GRCm38) N1557K probably damaging Het
Rev1 A C 1: 38,088,073 (GRCm38) F369V possibly damaging Het
Rgma A G 7: 73,417,440 (GRCm38) N148D probably damaging Het
Robo3 A G 9: 37,419,291 (GRCm38) L1003S probably damaging Het
Sdhb T C 4: 140,973,000 (GRCm38) V137A probably damaging Het
Sema6c T C 3: 95,169,614 (GRCm38) L337P probably damaging Het
Shc4 A T 2: 125,723,333 (GRCm38) Y15* probably null Het
Slc4a9 T C 18: 36,536,893 (GRCm38) S722P probably damaging Het
Smarcc1 A G 9: 110,206,100 (GRCm38) N864D probably damaging Het
Sspo T C 6: 48,455,087 (GRCm38) L745P probably damaging Het
Syce1l A G 8: 113,654,067 (GRCm38) D137G probably damaging Het
Tbc1d1 G T 5: 64,316,438 (GRCm38) W768L probably damaging Het
Tmbim7 A G 5: 3,661,887 (GRCm38) D7G probably benign Het
Tmem109 A C 19: 10,874,331 (GRCm38) S64A probably benign Het
Tnfrsf21 A G 17: 43,039,943 (GRCm38) R333G probably damaging Het
Ttn T G 2: 76,781,611 (GRCm38) S17316R probably damaging Het
Usp10 A G 8: 119,954,810 (GRCm38) T668A possibly damaging Het
Xirp2 T A 2: 67,515,562 (GRCm38) F2716I possibly damaging Het
Other mutations in Nt5c1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Nt5c1b APN 12 10,374,798 (GRCm38) missense probably benign 0.00
IGL01737:Nt5c1b APN 12 10,390,108 (GRCm38) missense possibly damaging 0.93
IGL02114:Nt5c1b APN 12 10,375,444 (GRCm38) missense probably damaging 1.00
IGL02131:Nt5c1b APN 12 10,375,491 (GRCm38) missense possibly damaging 0.75
IGL02135:Nt5c1b APN 12 10,377,194 (GRCm38) missense probably damaging 1.00
IGL02871:Nt5c1b APN 12 10,381,325 (GRCm38) missense probably damaging 1.00
IGL03327:Nt5c1b APN 12 10,374,861 (GRCm38) nonsense probably null
R0838:Nt5c1b UTSW 12 10,375,071 (GRCm38) nonsense probably null
R1340:Nt5c1b UTSW 12 10,377,276 (GRCm38) missense probably damaging 1.00
R1480:Nt5c1b UTSW 12 10,374,886 (GRCm38) missense probably damaging 1.00
R1599:Nt5c1b UTSW 12 10,390,024 (GRCm38) missense probably damaging 1.00
R1674:Nt5c1b UTSW 12 10,370,055 (GRCm38) start gained probably benign
R1691:Nt5c1b UTSW 12 10,375,537 (GRCm38) missense possibly damaging 0.95
R2237:Nt5c1b UTSW 12 10,375,558 (GRCm38) missense probably damaging 0.96
R2238:Nt5c1b UTSW 12 10,390,108 (GRCm38) missense probably damaging 1.00
R2238:Nt5c1b UTSW 12 10,375,558 (GRCm38) missense probably damaging 0.96
R2239:Nt5c1b UTSW 12 10,375,558 (GRCm38) missense probably damaging 0.96
R2260:Nt5c1b UTSW 12 10,374,965 (GRCm38) missense probably damaging 1.00
R2424:Nt5c1b UTSW 12 10,370,072 (GRCm38) missense probably damaging 1.00
R3607:Nt5c1b UTSW 12 10,377,236 (GRCm38) missense probably damaging 1.00
R4276:Nt5c1b UTSW 12 10,374,886 (GRCm38) missense probably damaging 1.00
R4582:Nt5c1b UTSW 12 10,390,054 (GRCm38) missense probably damaging 1.00
R4711:Nt5c1b UTSW 12 10,370,093 (GRCm38) missense probably damaging 1.00
R4775:Nt5c1b UTSW 12 10,375,449 (GRCm38) missense probably damaging 1.00
R5840:Nt5c1b UTSW 12 10,377,171 (GRCm38) missense probably damaging 1.00
R5940:Nt5c1b UTSW 12 10,375,515 (GRCm38) missense probably damaging 1.00
R6104:Nt5c1b UTSW 12 10,372,955 (GRCm38) missense probably damaging 1.00
R6329:Nt5c1b UTSW 12 10,372,138 (GRCm38) nonsense probably null
R6626:Nt5c1b UTSW 12 10,374,837 (GRCm38) nonsense probably null
R6722:Nt5c1b UTSW 12 10,372,874 (GRCm38) missense possibly damaging 0.48
R7424:Nt5c1b UTSW 12 10,381,391 (GRCm38) splice site probably null
R7491:Nt5c1b UTSW 12 10,374,903 (GRCm38) missense probably benign 0.00
R7714:Nt5c1b UTSW 12 10,375,472 (GRCm38) missense probably damaging 1.00
R8008:Nt5c1b UTSW 12 10,375,000 (GRCm38) missense possibly damaging 0.59
R8711:Nt5c1b UTSW 12 10,381,450 (GRCm38) missense probably damaging 1.00
R9302:Nt5c1b UTSW 12 10,380,882 (GRCm38) missense probably damaging 1.00
R9661:Nt5c1b UTSW 12 10,375,450 (GRCm38) missense probably damaging 0.98
Posted On 2016-08-02