Incidental Mutation 'IGL00850:Nudt13'
ID 12797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt13
Ensembl Gene ENSMUSG00000021809
Gene Name nudix hydrolase 13
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 13, 4933433B15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00850
Quality Score
Status
Chromosome 14
Chromosomal Location 20344765-20367646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20356418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 114 (S114R)
Ref Sequence ENSEMBL: ENSMUSP00000153558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022343] [ENSMUST00000223663] [ENSMUST00000223941] [ENSMUST00000224066] [ENSMUST00000224169] [ENSMUST00000224311] [ENSMUST00000225314]
AlphaFold Q8JZU0
Predicted Effect probably damaging
Transcript: ENSMUST00000022343
AA Change: S114R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022343
Gene: ENSMUSG00000021809
AA Change: S114R

DomainStartEndE-ValueType
Pfam:NUDIX-like 46 162 2.3e-20 PFAM
Pfam:zf-NADH-PPase 164 195 4.5e-12 PFAM
Pfam:NUDIX 197 318 1.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223566
Predicted Effect probably damaging
Transcript: ENSMUST00000223663
AA Change: S114R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223941
AA Change: S114R

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000224066
Predicted Effect possibly damaging
Transcript: ENSMUST00000224169
AA Change: S114R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224311
AA Change: S114R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225354
Predicted Effect possibly damaging
Transcript: ENSMUST00000225314
AA Change: S114R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224377
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand1 C A 10: 119,047,040 (GRCm39) V817L probably benign Het
Cdc16 T G 8: 13,817,575 (GRCm39) Y295* probably null Het
Cdk12 T A 11: 98,113,491 (GRCm39) N758K unknown Het
Cep295 A G 9: 15,234,148 (GRCm39) L2216S probably benign Het
Chpf2 A G 5: 24,797,259 (GRCm39) E735G probably damaging Het
Chrdl2 A G 7: 99,683,848 (GRCm39) T432A probably damaging Het
Cyp4a12b T A 4: 115,295,246 (GRCm39) probably null Het
D130043K22Rik T G 13: 25,051,157 (GRCm39) D464E probably damaging Het
Dst G T 1: 34,345,705 (GRCm39) A7622S probably damaging Het
Fdx1 A T 9: 51,859,949 (GRCm39) I127N probably damaging Het
Fem1a A G 17: 56,565,355 (GRCm39) I483V possibly damaging Het
Gcc2 C A 10: 58,094,070 (GRCm39) D51E probably benign Het
Glrb A G 3: 80,769,088 (GRCm39) S178P probably damaging Het
Inpp4b A G 8: 82,583,379 (GRCm39) Q161R probably damaging Het
Lrrc45 T C 11: 120,611,436 (GRCm39) probably benign Het
Myh3 T C 11: 66,981,681 (GRCm39) Y757H probably damaging Het
Myo1h A C 5: 114,453,132 (GRCm39) probably benign Het
Omg T C 11: 79,393,540 (GRCm39) N106S possibly damaging Het
Pbrm1 T C 14: 30,809,576 (GRCm39) V1163A probably damaging Het
Pi4k2b T A 5: 52,918,292 (GRCm39) Y350* probably null Het
Prr29 C A 11: 106,266,033 (GRCm39) T32K possibly damaging Het
Psd4 C T 2: 24,284,298 (GRCm39) A54V probably benign Het
Scd3 A G 19: 44,224,247 (GRCm39) H160R probably damaging Het
Shroom3 T C 5: 93,098,924 (GRCm39) L1387P probably damaging Het
Stk35 A G 2: 129,643,912 (GRCm39) T299A probably damaging Het
Thsd7b G A 1: 130,092,814 (GRCm39) S1238N probably benign Het
Utp11 T C 4: 124,576,250 (GRCm39) K131R probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zan T C 5: 137,462,375 (GRCm39) T935A unknown Het
Other mutations in Nudt13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Nudt13 APN 14 20,366,231 (GRCm39) missense possibly damaging 0.89
IGL01995:Nudt13 APN 14 20,356,385 (GRCm39) missense probably damaging 1.00
R0324:Nudt13 UTSW 14 20,361,583 (GRCm39) missense probably damaging 0.99
R0363:Nudt13 UTSW 14 20,359,851 (GRCm39) missense probably damaging 0.96
R1738:Nudt13 UTSW 14 20,359,762 (GRCm39) missense probably damaging 1.00
R1902:Nudt13 UTSW 14 20,360,709 (GRCm39) missense probably damaging 1.00
R2071:Nudt13 UTSW 14 20,354,045 (GRCm39) missense probably damaging 1.00
R2418:Nudt13 UTSW 14 20,361,581 (GRCm39) missense probably damaging 1.00
R5512:Nudt13 UTSW 14 20,357,800 (GRCm39) missense probably damaging 1.00
R6144:Nudt13 UTSW 14 20,357,839 (GRCm39) missense probably benign 0.07
R7210:Nudt13 UTSW 14 20,359,852 (GRCm39) missense possibly damaging 0.93
R7470:Nudt13 UTSW 14 20,359,791 (GRCm39) missense probably damaging 1.00
R7921:Nudt13 UTSW 14 20,354,140 (GRCm39) missense probably benign 0.00
R9021:Nudt13 UTSW 14 20,360,772 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06