Incidental Mutation 'R7193:Nudt14'
ID 559736
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 045334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7193 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112897911-112905744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 112902940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 28 (D28E)
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: D28E

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000002881
Gene: ENSMUSG00000002804
AA Change: D28E

DomainStartEndE-ValueType
Pfam:NUDIX 39 211 3.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221397
AA Change: D28E

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000221497
AA Change: D28E

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,265,963 (GRCm39) probably null Het
Abca16 T C 7: 120,026,409 (GRCm39) S124P probably damaging Het
Acan A T 7: 78,736,090 (GRCm39) S179C probably damaging Het
Atg2b A C 12: 105,630,967 (GRCm39) H319Q probably damaging Het
Bptf G A 11: 106,945,635 (GRCm39) Q2535* probably null Het
Brpf3 T C 17: 29,055,665 (GRCm39) *1205R probably null Het
Cabyr C A 18: 12,884,815 (GRCm39) P434Q probably damaging Het
Cacna1g C A 11: 94,300,057 (GRCm39) D2268Y possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cct4 A G 11: 22,947,111 (GRCm39) T201A probably benign Het
Cdyl2 A C 8: 117,350,733 (GRCm39) S133A probably benign Het
Cep76 A G 18: 67,774,204 (GRCm39) L14P possibly damaging Het
Cert1 T A 13: 96,767,341 (GRCm39) probably null Het
Crybg3 A T 16: 59,379,956 (GRCm39) S433T possibly damaging Het
Cul9 T C 17: 46,849,423 (GRCm39) K574R probably damaging Het
Cyp2u1 T C 3: 131,084,792 (GRCm39) I527V probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
F5 A G 1: 164,046,966 (GRCm39) N2142S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Flnc A G 6: 29,450,870 (GRCm39) Y1506C probably damaging Het
Foxred2 T A 15: 77,836,230 (GRCm39) S376C probably damaging Het
Gbe1 T C 16: 70,292,258 (GRCm39) L530P probably damaging Het
Hmcn1 T C 1: 150,525,331 (GRCm39) R3398G probably null Het
Igf1r T C 7: 67,836,905 (GRCm39) L587P probably damaging Het
Ints15 A G 5: 143,293,598 (GRCm39) V293A probably benign Het
Kcna3 T C 3: 106,943,853 (GRCm39) Y39H probably benign Het
Krtap5-2 GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA GCTACAGCCTCCCTTGCA 7: 141,728,980 (GRCm39) probably benign Het
Mbl1 T C 14: 40,880,669 (GRCm39) F186L probably damaging Het
Ncam2 A T 16: 81,386,683 (GRCm39) K687N probably damaging Het
Nedd4l T C 18: 65,130,441 (GRCm39) V24A probably damaging Het
Nek1 A G 8: 61,526,612 (GRCm39) E661G probably damaging Het
Or13n4 T C 7: 106,423,798 (GRCm39) probably benign Het
Or1j15 T A 2: 36,459,248 (GRCm39) C213S probably benign Het
Or2n1 T A 17: 38,485,987 (GRCm39) I4N probably benign Het
Or4k47 A T 2: 111,451,600 (GRCm39) V273E probably damaging Het
Pdk4 A T 6: 5,487,089 (GRCm39) M319K probably benign Het
Pfkp T C 13: 6,643,252 (GRCm39) N522S probably benign Het
Pias2 T C 18: 77,207,817 (GRCm39) V234A possibly damaging Het
Pik3c2b C A 1: 133,007,512 (GRCm39) H625Q probably benign Het
Pnpla7 T C 2: 24,941,627 (GRCm39) S1117P probably damaging Het
Prdm2 A T 4: 142,907,464 (GRCm39) V36D probably damaging Het
Prep C T 10: 44,968,795 (GRCm39) R98C probably benign Het
Rae1 T C 2: 172,850,110 (GRCm39) probably null Het
Rgs3 T A 4: 62,533,573 (GRCm39) V138E probably damaging Het
Rnf185 T C 11: 3,375,329 (GRCm39) T142A possibly damaging Het
Rsph6a C A 7: 18,799,572 (GRCm39) P401Q probably damaging Het
Runx3 A T 4: 134,848,456 (GRCm39) T14S probably benign Het
Scaf11 A G 15: 96,317,042 (GRCm39) S841P probably damaging Het
Spta1 T A 1: 174,012,178 (GRCm39) L328Q probably damaging Het
Sqor G A 2: 122,645,929 (GRCm39) V318M probably damaging Het
Stox2 T C 8: 47,639,489 (GRCm39) T902A probably benign Het
Susd3 T C 13: 49,384,679 (GRCm39) H248R probably damaging Het
Syne1 T C 10: 5,183,406 (GRCm39) Y4133C probably damaging Het
Tbc1d20 C T 2: 152,153,337 (GRCm39) T289M probably benign Het
Unc80 T A 1: 66,588,943 (GRCm39) F1036Y possibly damaging Het
Zbtb7c T C 18: 76,271,009 (GRCm39) C366R probably damaging Het
Zeb1 A T 18: 5,772,756 (GRCm39) D1015V probably damaging Het
Zfp606 T G 7: 12,227,966 (GRCm39) S696A 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
R6527:Nudt14 UTSW 12 112,898,507 (GRCm39) missense possibly damaging 0.93
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'- CAGATCTTACCAGGAGCCTG -3'
(R):5'- TTCCCAGAACATCAGGCTATCC -3'

Sequencing Primer
(F):5'- TTACCAGGAGCCTGCCACC -3'
(R):5'- AGGCTATCCTGACCTCCCG -3'
Posted On 2019-06-26