Incidental Mutation 'IGL00801:Nudt5'
ID12799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt5
Ensembl Gene ENSMUSG00000025817
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 5
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.254) question?
Stock #IGL00801
Quality Score
Status
Chromosome2
Chromosomal Location5845019-5871895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5866357 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 166 (F166S)
Ref Sequence ENSEMBL: ENSMUSP00000136233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026927] [ENSMUST00000071016] [ENSMUST00000102981] [ENSMUST00000127116] [ENSMUST00000179748] [ENSMUST00000193792] [ENSMUST00000194933]
Predicted Effect probably damaging
Transcript: ENSMUST00000026927
AA Change: F166S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: F166S

DomainStartEndE-ValueType
Pfam:NUDIX 57 191 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071016
SMART Domains Protein: ENSMUSP00000063314
Gene: ENSMUSG00000056718

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102981
SMART Domains Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 6.2e-21 PFAM
Pfam:SecY 75 458 1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127116
SMART Domains Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817

DomainStartEndE-ValueType
Pfam:NUDIX 57 158 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142918
Predicted Effect probably damaging
Transcript: ENSMUST00000179748
AA Change: F166S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: F166S

DomainStartEndE-ValueType
Pfam:NUDIX 57 192 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193792
SMART Domains Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 4e-22 PFAM
Pfam:SecY 75 263 5.3e-44 PFAM
Pfam:SecY 261 393 1.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194933
SMART Domains Protein: ENSMUSP00000141265
Gene: ENSMUSG00000025817

DomainStartEndE-ValueType
PDB:3BM4|B 1 88 4e-44 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Gjb6 A T 14: 57,124,041 N254K possibly damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Knop1 A G 7: 118,852,644 V284A probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Qtrt2 T C 16: 43,881,189 K3E probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Skint2 A T 4: 112,625,991 M198L possibly damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R probably damaging Het
Other mutations in Nudt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Nudt5 APN 2 5864427 missense probably benign 0.01
IGL02683:Nudt5 APN 2 5863601 missense probably damaging 0.97
R0158:Nudt5 UTSW 2 5862303 missense probably damaging 1.00
R1193:Nudt5 UTSW 2 5863600 missense probably benign 0.40
R2202:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2203:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2204:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2205:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R3836:Nudt5 UTSW 2 5866347 splice site probably null
R4652:Nudt5 UTSW 2 5856065 intron probably benign
R4841:Nudt5 UTSW 2 5864428 missense probably benign 0.00
R4842:Nudt5 UTSW 2 5864428 missense probably benign 0.00
R5071:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5073:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5074:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5106:Nudt5 UTSW 2 5854829 utr 5 prime probably benign
R6328:Nudt5 UTSW 2 5864437 missense possibly damaging 0.59
Posted On2012-12-06