Incidental Mutation 'R6527:Nudt14'
ID 522015
Institutional Source Beutler Lab
Gene Symbol Nudt14
Ensembl Gene ENSMUSG00000002804
Gene Name nudix hydrolase 14
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 14, 1110030M18Rik
MMRRC Submission 044653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112897911-112905744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112898507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 198 (I198F)
Ref Sequence ENSEMBL: ENSMUSP00000152599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002881] [ENSMUST00000221397] [ENSMUST00000221497]
AlphaFold Q9D142
Predicted Effect possibly damaging
Transcript: ENSMUST00000002881
AA Change: I186F

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002881
Gene: ENSMUSG00000002804
AA Change: I186F

DomainStartEndE-ValueType
Pfam:NUDIX 39 211 3.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000221397
AA Change: I198F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000221497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222932
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,288 (GRCm39) T826A probably damaging Het
Abca16 T A 7: 120,076,995 (GRCm39) I686N possibly damaging Het
Abcb6 T C 1: 75,154,132 (GRCm39) probably null Het
Adgrl3 A C 5: 81,935,364 (GRCm39) E1299A probably damaging Het
Amd2 A C 10: 35,586,802 (GRCm39) Y252D probably damaging Het
Cfap74 A G 4: 155,506,722 (GRCm39) probably null Het
Dhx29 G T 13: 113,069,076 (GRCm39) K135N probably damaging Het
Dlg5 T A 14: 24,240,516 (GRCm39) D245V possibly damaging Het
Dscaml1 C T 9: 45,623,482 (GRCm39) Q83* probably null Het
Dsp T A 13: 38,379,849 (GRCm39) L1599Q probably damaging Het
Duox2 A G 2: 122,125,095 (GRCm39) V369A probably benign Het
Flacc1 T C 1: 58,731,572 (GRCm39) M1V probably null Het
Gbe1 T A 16: 70,230,560 (GRCm39) probably null Het
Gm7298 A G 6: 121,746,669 (GRCm39) K600R probably benign Het
Heatr4 C T 12: 84,026,537 (GRCm39) G240E probably damaging Het
Jakmip2 A G 18: 43,689,589 (GRCm39) V651A possibly damaging Het
Jam3 C T 9: 27,066,640 (GRCm39) R8Q unknown Het
Letm2 A G 8: 26,082,522 (GRCm39) probably benign Het
Lmod3 T C 6: 97,224,339 (GRCm39) D494G probably benign Het
Mast2 T C 4: 116,172,136 (GRCm39) D604G probably damaging Het
Mif4gd C T 11: 115,500,101 (GRCm39) probably null Het
Msr1 T C 8: 40,077,274 (GRCm39) E112G possibly damaging Het
Mtus2 A G 5: 148,214,408 (GRCm39) probably null Het
Muc4 A G 16: 32,753,433 (GRCm38) H1103R probably benign Het
Or11j4 T A 14: 50,630,885 (GRCm39) L224* probably null Het
Or13p3 T A 4: 118,567,045 (GRCm39) F147Y possibly damaging Het
Or1n1b T C 2: 36,780,594 (GRCm39) T89A probably benign Het
Osbpl8 T C 10: 111,129,066 (GRCm39) I884T probably benign Het
Podxl2 T C 6: 88,819,912 (GRCm39) N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 (GRCm39) Y151C probably damaging Het
Prss42 T C 9: 110,629,924 (GRCm39) V226A possibly damaging Het
Psmd12 A G 11: 107,379,794 (GRCm39) I116V probably damaging Het
Psme4 A C 11: 30,782,175 (GRCm39) I872L probably benign Het
Rab11fip1 A T 8: 27,664,420 (GRCm39) V65E probably damaging Het
Ros1 T C 10: 52,019,473 (GRCm39) N700S possibly damaging Het
Slc15a4 G A 5: 127,673,773 (GRCm39) T547M probably damaging Het
Slfn3 T A 11: 83,103,932 (GRCm39) C268S probably benign Het
Smc5 T C 19: 23,205,554 (GRCm39) Q794R probably benign Het
Sqor A G 2: 122,651,206 (GRCm39) Y434C probably damaging Het
Steap4 T A 5: 8,028,502 (GRCm39) L360H probably damaging Het
Sycp1 A G 3: 102,806,203 (GRCm39) V496A probably benign Het
Tmem161b T G 13: 84,420,383 (GRCm39) M128R probably benign Het
Tmem59l T C 8: 70,938,775 (GRCm39) E102G probably damaging Het
Tnks A T 8: 35,340,247 (GRCm39) V457D probably benign Het
Tomt A G 7: 101,549,599 (GRCm39) Y230H probably damaging Het
Trim37 A G 11: 87,080,910 (GRCm39) N561D probably damaging Het
V1ra8 T A 6: 90,180,295 (GRCm39) I166K probably damaging Het
Vmn1r56 A G 7: 5,199,575 (GRCm39) V14A probably benign Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwa8 A T 14: 79,184,653 (GRCm39) S384C possibly damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp984 T C 4: 147,840,381 (GRCm39) N157D probably benign Het
Zzef1 G A 11: 72,765,816 (GRCm39) D1448N probably benign Het
Other mutations in Nudt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0279:Nudt14 UTSW 12 112,902,037 (GRCm39) missense probably damaging 1.00
R1541:Nudt14 UTSW 12 112,898,548 (GRCm39) missense probably damaging 1.00
R3026:Nudt14 UTSW 12 112,905,612 (GRCm39) missense probably null 0.01
R5202:Nudt14 UTSW 12 112,898,648 (GRCm39) missense probably damaging 1.00
R7193:Nudt14 UTSW 12 112,902,940 (GRCm39) missense probably benign 0.24
R9018:Nudt14 UTSW 12 112,902,906 (GRCm39) missense probably damaging 1.00
R9503:Nudt14 UTSW 12 112,898,566 (GRCm39) missense probably damaging 1.00
X0019:Nudt14 UTSW 12 112,902,117 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TATGGAGACCTTGCTACCCTC -3'
(R):5'- TGACAGGTCTGGAGTAGGACTG -3'

Sequencing Primer
(F):5'- GGTCACAGTGCTCAAAGCCAG -3'
(R):5'- TCTGGAGTAGGACTGACTAGCTCC -3'
Posted On 2018-06-06