Incidental Mutation 'R7887:Nudt6'
ID 609101
Institutional Source Beutler Lab
Gene Symbol Nudt6
Ensembl Gene ENSMUSG00000050174
Gene Name nudix hydrolase 6
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 6
MMRRC Submission 045939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R7887 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 37459126-37474391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37466529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 157 (V157I)
Ref Sequence ENSEMBL: ENSMUSP00000056219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052645] [ENSMUST00000099130] [ENSMUST00000108117] [ENSMUST00000108118] [ENSMUST00000141438] [ENSMUST00000146324] [ENSMUST00000149449] [ENSMUST00000200585]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000052645
AA Change: V157I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: V157I

DomainStartEndE-ValueType
PDB:3FXT|H 42 131 1e-42 PDB
Pfam:NUDIX 139 270 2.7e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099130
AA Change: V157I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: V157I

DomainStartEndE-ValueType
PDB:3FXT|H 42 131 1e-42 PDB
Pfam:NUDIX 139 269 7.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108117
SMART Domains Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174

DomainStartEndE-ValueType
PDB:3FXT|H 42 76 3e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000108118
AA Change: V89I

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: V89I

DomainStartEndE-ValueType
Pfam:NUDIX 73 202 1.7e-22 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118428
Gene: ENSMUSG00000050174
AA Change: V123I

DomainStartEndE-ValueType
PDB:3FXT|H 17 98 4e-30 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000141438
SMART Domains Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174

DomainStartEndE-ValueType
PDB:3H95|A 2 97 5e-55 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000146324
SMART Domains Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174

DomainStartEndE-ValueType
Pfam:NUDIX 1 104 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149449
SMART Domains Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174

DomainStartEndE-ValueType
PDB:3FXT|H 42 131 3e-44 PDB
PDB:3H95|A 132 191 6e-22 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000198158
Predicted Effect probably benign
Transcript: ENSMUST00000200585
SMART Domains Protein: ENSMUSP00000143094
Gene: ENSMUSG00000037225

DomainStartEndE-ValueType
FGF 25 151 2.08e-65 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,385,343 (GRCm39) I580N probably damaging Het
Ankrd35 C T 3: 96,592,216 (GRCm39) T834M probably damaging Het
Astn2 C T 4: 65,563,103 (GRCm39) V893I possibly damaging Het
B4galt1 A G 4: 40,823,501 (GRCm39) Y197H probably benign Het
Brdt T C 5: 107,507,799 (GRCm39) S676P possibly damaging Het
Chrdl2 T C 7: 99,678,457 (GRCm39) V343A possibly damaging Het
Clcn3 A T 8: 61,394,433 (GRCm39) M59K probably benign Het
Cpne4 A T 9: 104,909,990 (GRCm39) N529I probably damaging Het
Crcp G T 5: 130,066,711 (GRCm39) K32N possibly damaging Het
Ddx54 C T 5: 120,765,268 (GRCm39) R846C probably damaging Het
Dennd6a T C 14: 26,320,812 (GRCm39) S118P possibly damaging Het
Egr3 A G 14: 70,316,651 (GRCm39) Y116C probably damaging Het
Fbxw25 A G 9: 109,478,662 (GRCm39) probably null Het
Focad T G 4: 88,100,853 (GRCm39) I313M probably damaging Het
Gm10272 C T 10: 77,542,779 (GRCm39) P107L probably benign Het
Gpr26 A C 7: 131,568,702 (GRCm39) I16L probably benign Het
Gpr39 C A 1: 125,605,279 (GRCm39) T69K probably damaging Het
Hacl1 C T 14: 31,356,184 (GRCm39) G97S probably damaging Het
Idh3b A C 2: 130,123,678 (GRCm39) D136E probably damaging Het
Irf6 G A 1: 192,850,040 (GRCm39) V321M probably damaging Het
Klrg2 T A 6: 38,613,506 (GRCm39) T166S probably damaging Het
Lnx2 T C 5: 146,955,853 (GRCm39) I648V probably damaging Het
Mecr A G 4: 131,588,177 (GRCm39) probably null Het
Mnat1 T A 12: 73,234,965 (GRCm39) S205T probably benign Het
Mpnd G A 17: 56,318,097 (GRCm39) G204D probably benign Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Nid1 G T 13: 13,674,318 (GRCm39) R899L possibly damaging Het
Nisch C T 14: 30,898,652 (GRCm39) W664* probably null Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or51h7 A C 7: 102,591,358 (GRCm39) L142R possibly damaging Het
Or5l13 T C 2: 87,780,224 (GRCm39) M118V probably damaging Het
Or8g31-ps1 A T 9: 39,276,175 (GRCm39) M107L unknown Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Phf11d A G 14: 59,597,029 (GRCm39) Y57H probably damaging Het
Prkaca T C 8: 84,713,524 (GRCm39) V99A probably benign Het
Rnf144b T A 13: 47,393,287 (GRCm39) C209S probably damaging Het
Scly G A 1: 91,228,363 (GRCm39) probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sphkap T C 1: 83,255,133 (GRCm39) Y872C probably benign Het
Ssh1 C T 5: 114,099,410 (GRCm39) probably null Het
Strap T G 6: 137,716,807 (GRCm39) L129V possibly damaging Het
Sympk T C 7: 18,768,364 (GRCm39) I111T possibly damaging Het
Tprn C A 2: 25,154,024 (GRCm39) A442E probably damaging Het
Tsen34 T C 7: 3,697,707 (GRCm39) L36P probably damaging Het
Ubr4 T C 4: 139,135,121 (GRCm39) F818L probably damaging Het
Uggt1 T C 1: 36,247,115 (GRCm39) Y294C probably damaging Het
Usp20 A G 2: 30,910,906 (GRCm39) K862E probably benign Het
Vmn1r201 A T 13: 22,658,956 (GRCm39) I57F probably damaging Het
Wdr64 C T 1: 175,613,111 (GRCm39) A662V not run Het
Other mutations in Nudt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Nudt6 APN 3 37,459,320 (GRCm39) missense probably benign 0.03
IGL02965:Nudt6 APN 3 37,473,655 (GRCm39) missense probably damaging 0.99
IGL02975:Nudt6 APN 3 37,473,667 (GRCm39) missense probably damaging 1.00
R0927:Nudt6 UTSW 3 37,459,502 (GRCm39) missense probably benign 0.01
R1884:Nudt6 UTSW 3 37,466,549 (GRCm39) missense probably benign 0.02
R1939:Nudt6 UTSW 3 37,459,379 (GRCm39) missense probably damaging 1.00
R2122:Nudt6 UTSW 3 37,466,554 (GRCm39) missense probably benign 0.01
R4416:Nudt6 UTSW 3 37,459,378 (GRCm39) splice site probably null
R4801:Nudt6 UTSW 3 37,459,503 (GRCm39) missense probably benign 0.01
R4802:Nudt6 UTSW 3 37,459,503 (GRCm39) missense probably benign 0.01
R5826:Nudt6 UTSW 3 37,473,617 (GRCm39) missense probably benign 0.05
R6362:Nudt6 UTSW 3 37,473,638 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GACAGGTTTAGGTCTGTGTCACAG -3'
(R):5'- TGAGTAATGACCTCCTTGCTG -3'

Sequencing Primer
(F):5'- CTGTGTCACAGCTTTATTTAGATAGG -3'
(R):5'- CCTTGCTGGAGAGGTGTTTTATAGTC -3'
Posted On 2019-12-20