Incidental Mutation 'R2042:Nt5c3b'
ID225110
Institutional Source Beutler Lab
Gene Symbol Nt5c3b
Ensembl Gene ENSMUSG00000017176
Gene Name5'-nucleotidase, cytosolic IIIB
SynonymsNt5c3l, C330027I04Rik, 2610037D24Rik
MMRRC Submission 040049-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #R2042 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location100422321-100441808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100436194 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 92 (H92R)
Ref Sequence ENSEMBL: ENSMUSP00000103022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092688] [ENSMUST00000092689] [ENSMUST00000107397] [ENSMUST00000107398] [ENSMUST00000107399]
Predicted Effect probably benign
Transcript: ENSMUST00000092688
AA Change: H92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176
AA Change: H92R

DomainStartEndE-ValueType
Pfam:UMPH-1 44 289 6.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092689
AA Change: H49R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176
AA Change: H49R

DomainStartEndE-ValueType
Pfam:UMPH-1 1 246 1.2e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107397
AA Change: H84R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176
AA Change: H84R

DomainStartEndE-ValueType
Pfam:UMPH-1 36 281 1.9e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107398
AA Change: H92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176
AA Change: H92R

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107399
AA Change: H92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176
AA Change: H92R

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155025
Meta Mutation Damage Score 0.0650 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,416,728 probably benign Het
9130019O22Rik A T 7: 127,385,469 C154S possibly damaging Het
Abca16 G A 7: 120,544,718 R1653Q probably benign Het
Ahnak2 T A 12: 112,785,819 Y176F probably damaging Het
Ano6 T C 15: 95,956,023 probably null Het
Atr T C 9: 95,870,022 L564S probably benign Het
Birc6 C G 17: 74,609,659 A1774G probably damaging Het
Cacng1 C T 11: 107,704,308 A148T probably damaging Het
Cd53 T A 3: 106,767,424 probably null Het
Celsr2 A G 3: 108,402,495 F1596S probably damaging Het
Cep120 A T 18: 53,735,742 F122I possibly damaging Het
Ckm A T 7: 19,414,157 H7L possibly damaging Het
Crybg2 T C 4: 134,087,533 V1575A possibly damaging Het
Cspp1 A G 1: 10,112,538 E712G probably damaging Het
Cyp2b23 C A 7: 26,666,108 R434L probably damaging Het
D630003M21Rik A T 2: 158,215,849 S570T probably damaging Het
Dmbt1 A G 7: 131,106,359 I1444V probably damaging Het
Dnah8 T C 17: 30,635,658 V98A probably benign Het
Dtx1 T G 5: 120,694,476 N299T probably benign Het
Efr3b T A 12: 3,984,627 D65V probably damaging Het
Eml4 T C 17: 83,448,178 C323R probably damaging Het
Eps15 C T 4: 109,304,767 T31I probably damaging Het
Fam160a2 G T 7: 105,384,121 Y629* probably null Het
Fam205c C T 4: 42,874,030 C46Y possibly damaging Het
Fam46b T C 4: 133,486,613 V265A possibly damaging Het
Fam91a1 A G 15: 58,426,594 I184V probably benign Het
Fbxl8 A T 8: 105,268,224 I123F probably damaging Het
Fbxw26 T G 9: 109,732,704 T141P probably damaging Het
Glra3 G A 8: 56,062,459 D190N probably benign Het
Hspg2 T C 4: 137,568,366 L4229P probably damaging Het
Ipmk C T 10: 71,363,503 R65W probably damaging Het
Irs2 A G 8: 11,007,580 I284T probably damaging Het
Klhl22 T C 16: 17,792,420 probably benign Het
Lmcd1 T A 6: 112,315,890 D234E probably benign Het
Lrrc14b T C 13: 74,363,442 K173R probably benign Het
Magi1 A T 6: 93,755,045 N209K probably benign Het
Mak A C 13: 41,049,436 S179A possibly damaging Het
Map3k4 C A 17: 12,277,983 R87L probably damaging Het
Map4k1 T C 7: 28,984,130 L53P probably damaging Het
Melk T C 4: 44,309,051 probably null Het
Mks1 C T 11: 87,856,668 probably benign Het
Mrgpra2b C T 7: 47,464,160 V249I probably benign Het
N4bp2 C T 5: 65,826,621 P1670S probably damaging Het
Ncf1 C G 5: 134,226,640 Q132H probably benign Het
Nemp1 T C 10: 127,696,334 S370P possibly damaging Het
Olfr1180 G A 2: 88,412,202 A152V possibly damaging Het
Olfr527 T C 7: 140,335,937 L25P probably damaging Het
P4ha3 T C 7: 100,300,690 probably null Het
Pcnx C A 12: 81,918,293 H411Q probably damaging Het
Podxl A G 6: 31,523,116 V473A possibly damaging Het
Prkd2 T C 7: 16,856,268 S530P possibly damaging Het
Scin A G 12: 40,077,510 I427T possibly damaging Het
Sgo2b T C 8: 63,928,527 T424A probably benign Het
Slc22a2 T C 17: 12,599,125 I196T probably benign Het
Slc47a2 C A 11: 61,338,082 V90L probably benign Het
Slc4a7 G A 14: 14,737,386 V99M probably damaging Het
Sprr2k T C 3: 92,433,456 probably benign Het
Spta1 G A 1: 174,211,647 M1185I probably benign Het
Uaca T C 9: 60,869,891 V518A probably damaging Het
Ubr3 C T 2: 69,977,774 Q1200* probably null Het
Ufm1 A G 3: 53,859,281 probably benign Het
Zer1 G A 2: 30,108,274 L342F probably damaging Het
Zfp142 G A 1: 74,570,619 T1236I probably benign Het
Zfp236 A G 18: 82,633,109 Y845H probably damaging Het
Zfp787 T C 7: 6,132,764 K163E possibly damaging Het
Other mutations in Nt5c3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Nt5c3b APN 11 100432909 splice site probably benign
IGL03060:Nt5c3b APN 11 100436219 missense probably damaging 1.00
IGL03331:Nt5c3b APN 11 100436215 missense probably damaging 1.00
R0523:Nt5c3b UTSW 11 100436210 missense probably damaging 0.99
R1678:Nt5c3b UTSW 11 100436210 missense probably damaging 0.99
R1686:Nt5c3b UTSW 11 100440094 splice site probably benign
R4580:Nt5c3b UTSW 11 100433059 missense probably damaging 1.00
R4601:Nt5c3b UTSW 11 100432918 missense probably benign 0.20
R4735:Nt5c3b UTSW 11 100440906 missense probably benign 0.34
R5328:Nt5c3b UTSW 11 100440241 missense probably damaging 1.00
R5503:Nt5c3b UTSW 11 100433057 missense probably benign 0.13
R6176:Nt5c3b UTSW 11 100440148 intron probably benign
R6966:Nt5c3b UTSW 11 100429924 missense probably benign 0.04
R7969:Nt5c3b UTSW 11 100434741 missense possibly damaging 0.88
Z1177:Nt5c3b UTSW 11 100436156 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCCCTGAGCCTTTCCAC -3'
(R):5'- TTCATAAATGGTGTGCTCCCC -3'

Sequencing Primer
(F):5'- TTCCACTGTCGCAGCAG -3'
(R):5'- CTTCATCTCAAGCGAGAC -3'
Posted On2014-08-25