Incidental Mutation 'IGL02135:Nt5c1b'
ID 281297
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 # IGL02135
Quality Score
Status
Chromosome 12
Chromosomal Location 10419973-10440175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10427194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 315 (Y315H)
Ref Sequence ENSEMBL: ENSMUSP00000152344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000143739] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218339] [ENSMUST00000219826] [ENSMUST00000218287] [ENSMUST00000218417] [ENSMUST00000219049] [ENSMUST00000218551] [ENSMUST00000219292] [ENSMUST00000218327] [ENSMUST00000220257] [ENSMUST00000223534] [ENSMUST00000220611]
AlphaFold Q91YE9
Predicted Effect probably damaging
Transcript: ENSMUST00000002456
AA Change: Y331H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: Y331H

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 damaging
Transcript: ENSMUST00000118657
AA Change: Y313H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: Y313H

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: ENSMUST00000143739
SMART Domains Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147323
AA Change: Y331H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: Y331H

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 damaging
Transcript: ENSMUST00000217944
AA Change: Y373H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000218026
Predicted Effect probably damaging
Transcript: ENSMUST00000218339
AA Change: Y329H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000219630
AA Change: Y220H
Predicted Effect probably damaging
Transcript: ENSMUST00000219826
AA Change: Y389H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218287
Predicted Effect probably benign
Transcript: ENSMUST00000218417
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect probably damaging
Transcript: ENSMUST00000218551
AA Change: Y315H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect unknown
Transcript: ENSMUST00000218288
AA Change: Y252H
Predicted Effect probably benign
Transcript: ENSMUST00000219292
Predicted Effect probably benign
Transcript: ENSMUST00000218327
Predicted Effect probably benign
Transcript: ENSMUST00000220257
Predicted Effect probably damaging
Transcript: ENSMUST00000223534
AA Change: Y315H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000220611
AA Change: Y315H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,205 (GRCm39) H1034R possibly damaging Het
Aoc1l1 G A 6: 48,952,498 (GRCm39) R141Q probably benign Het
App A G 16: 84,876,726 (GRCm39) probably null Het
Arhgap23 G T 11: 97,342,528 (GRCm39) R270L probably damaging Het
Arhgap36 T C X: 48,586,066 (GRCm39) I342T possibly damaging Het
Arhgef12 A T 9: 42,883,461 (GRCm39) M1356K possibly damaging Het
Armh4 T C 14: 50,011,386 (GRCm39) K107R probably damaging Het
Asap3 A C 4: 135,968,464 (GRCm39) probably null Het
Atl2 A G 17: 80,167,214 (GRCm39) probably null Het
Cdh20 T A 1: 110,066,004 (GRCm39) Y759* probably null Het
Celsr3 A G 9: 108,704,755 (GRCm39) T413A probably benign Het
Cep97 A T 16: 55,743,330 (GRCm39) I102K probably damaging Het
Ces2a T C 8: 105,466,813 (GRCm39) S441P probably benign Het
Cops2 T C 2: 125,674,163 (GRCm39) T435A probably benign Het
Ctc1 A G 11: 68,911,989 (GRCm39) N56S probably benign Het
Dennd2a G A 6: 39,457,205 (GRCm39) R746* probably null Het
Dnah5 T A 15: 28,248,031 (GRCm39) C723S possibly damaging Het
Dnah7a A C 1: 53,662,632 (GRCm39) V643G probably benign Het
Dnah9 A T 11: 66,008,318 (GRCm39) S836T possibly damaging Het
Edc4 T A 8: 106,612,454 (GRCm39) V164D probably damaging Het
Gcfc2 A T 6: 81,918,381 (GRCm39) D357V probably damaging Het
Grem1 T C 2: 113,580,132 (GRCm39) N123S probably damaging Het
Gria1 T C 11: 57,076,679 (GRCm39) V94A probably damaging Het
Hipk2 G A 6: 38,795,934 (GRCm39) H112Y possibly damaging Het
Il7r T C 15: 9,508,092 (GRCm39) N410S probably benign Het
Insr A T 8: 3,308,741 (GRCm39) S98R probably damaging Het
Klhl7 T A 5: 24,346,279 (GRCm39) Y308* probably null Het
Lcp1 T C 14: 75,437,926 (GRCm39) V112A probably benign Het
Map2 A T 1: 66,419,920 (GRCm39) R84* probably null Het
Mgst1 A T 6: 138,124,766 (GRCm39) M27L probably damaging Het
Mroh7 A G 4: 106,559,707 (GRCm39) L740P probably damaging Het
Mybpc3 T C 2: 90,955,171 (GRCm39) F507L possibly damaging Het
Nqo2 A T 13: 34,169,326 (GRCm39) K183* probably null Het
Odc1 T A 12: 17,597,674 (GRCm39) I48N probably damaging Het
Or2a56 A G 6: 42,932,585 (GRCm39) D51G probably damaging Het
Or7a37 T A 10: 78,805,940 (GRCm39) S152R probably damaging Het
Osbpl5 T A 7: 143,258,862 (GRCm39) D236V probably damaging Het
Prkg1 A G 19: 30,970,476 (GRCm39) Y212H probably benign Het
Pttg1ip T C 10: 77,425,578 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,974 (GRCm39) T103S possibly damaging Het
Skp2 T C 15: 9,125,234 (GRCm39) D115G probably benign Het
Slc25a30 C T 14: 76,004,435 (GRCm39) V221I probably benign Het
Slc7a3 A C X: 100,123,098 (GRCm39) D609E probably benign Het
Strc C T 2: 121,195,315 (GRCm39) G1656D probably damaging Het
Tbc1d8 A G 1: 39,441,891 (GRCm39) F234L probably damaging Het
Tgm7 T G 2: 120,929,519 (GRCm39) I252L possibly damaging Het
Tlr5 A G 1: 182,800,819 (GRCm39) D41G possibly damaging Het
Tns2 T C 15: 102,021,461 (GRCm39) L1034P probably damaging Het
Trim15 A G 17: 37,177,956 (GRCm39) V13A probably benign Het
Uros C T 7: 133,288,734 (GRCm39) V258M possibly damaging Het
Wdr75 A G 1: 45,853,723 (GRCm39) Y378C probably damaging Het
Wdr75 G A 1: 45,856,608 (GRCm39) probably null Het
Wdr82 G T 9: 106,048,443 (GRCm39) R9L possibly damaging Het
Ybx3 G A 6: 131,357,892 (GRCm39) R125C probably damaging Het
Zc3h12b A G X: 94,942,870 (GRCm39) T49A probably benign Het
Zfyve27 G A 19: 42,172,575 (GRCm39) V279M probably damaging 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
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
R4582:Nt5c1b UTSW 12 10,440,054 (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
Posted On 2015-04-16