Incidental Mutation 'R9057:Nif3l1'
ID 688725
Institutional Source Beutler Lab
Gene Symbol Nif3l1
Ensembl Gene ENSMUSG00000026036
Gene Name Ngg1 interacting factor 3-like 1 (S. pombe)
Synonyms 1110030G24Rik
MMRRC Submission 068883-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # R9057 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58484310-58501435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58489648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 179 (D179G)
Ref Sequence ENSEMBL: ENSMUSP00000109976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000129759] [ENSMUST00000151272] [ENSMUST00000171597]
AlphaFold Q9EQ80
Predicted Effect probably benign
Transcript: ENSMUST00000087521
AA Change: D179G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: D179G

DomainStartEndE-ValueType
Pfam:NIF3 31 363 1.9e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114337
AA Change: D179G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: D179G

DomainStartEndE-ValueType
Pfam:NIF3 31 324 4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129759
SMART Domains Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 154 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140723
Predicted Effect probably benign
Transcript: ENSMUST00000151272
SMART Domains Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 131 3.1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171597
AA Change: D179G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: D179G

DomainStartEndE-ValueType
Pfam:NIF3 31 363 2.5e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185578
Meta Mutation Damage Score 0.0789 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: This gene is a member of the NGG1-interacting factor 3-like superfamily of transcriptional regulators and is ubiquitously expressed throughout embryonic development. The encoded protein interacts with a component of the constitutive photomorphogenesis 9 signalosome, and functions as a transcriptional corepressor of genes involved in neuronal differentiation. This gene is highly conserved from bacteria to human. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,782 (GRCm39) probably benign Het
Abca2 G A 2: 25,331,584 (GRCm39) D1324N probably benign Het
Acat1 C T 9: 53,503,300 (GRCm39) G180R probably damaging Het
AI837181 A C 19: 5,476,730 (GRCm39) T298P probably damaging Het
Alms1 T A 6: 85,586,814 (GRCm39) D556E unknown Het
Ankle1 T A 8: 71,858,961 (GRCm39) W65R probably benign Het
Ano5 A G 7: 51,203,654 (GRCm39) N234S probably benign Het
Asb7 T A 7: 66,309,395 (GRCm39) probably benign Het
Atad2b T A 12: 5,068,102 (GRCm39) C1033* probably null Het
B4galnt1 A G 10: 127,006,999 (GRCm39) D452G probably damaging Het
B4gat1 G T 19: 5,089,056 (GRCm39) A18S possibly damaging Het
Bard1 A G 1: 71,069,807 (GRCm39) Y724H probably damaging Het
Bcl9 A T 3: 97,112,306 (GRCm39) M1383K possibly damaging Het
Cenpt C A 8: 106,576,405 (GRCm39) *43L probably null Het
Ces2f C A 8: 105,674,744 (GRCm39) H49N probably benign Het
Col17a1 A T 19: 47,637,522 (GRCm39) D1245E probably damaging Het
Col19a1 G T 1: 24,549,962 (GRCm39) H312N unknown Het
Cyb5d2 C T 11: 72,679,924 (GRCm39) E124K probably benign Het
Dnah5 C T 15: 28,391,014 (GRCm39) A3291V probably damaging Het
Exo5 A T 4: 120,779,186 (GRCm39) D226E probably damaging Het
Ggt6 C T 11: 72,328,067 (GRCm39) T189M probably damaging Het
Gm5592 C A 7: 40,938,887 (GRCm39) S723Y possibly damaging Het
Golga3 C T 5: 110,332,465 (GRCm39) T133M probably damaging Het
Heatr5a C T 12: 51,986,420 (GRCm39) E598K probably damaging Het
Hfe T A 13: 23,889,658 (GRCm39) I330F possibly damaging Het
Htt A G 5: 35,009,454 (GRCm39) I1478M possibly damaging Het
Igf1r T C 7: 67,833,186 (GRCm39) F449L probably damaging Het
Ints4 T C 7: 97,158,987 (GRCm39) V453A possibly damaging Het
Ints6 A G 14: 62,951,740 (GRCm39) probably null Het
Klrh1 T A 6: 129,752,803 (GRCm39) M1L probably benign Het
Kpna4 G A 3: 69,002,018 (GRCm39) T248M probably damaging Het
Lactb T C 9: 66,874,977 (GRCm39) I372V possibly damaging Het
Mib1 T A 18: 10,795,728 (GRCm39) D696E possibly damaging Het
Mpzl3 G A 9: 44,979,592 (GRCm39) R181Q probably damaging Het
Mup12 A T 4: 60,696,779 (GRCm39) I33N probably damaging Het
Myh10 A G 11: 68,656,011 (GRCm39) I502V possibly damaging Het
Nacad C A 11: 6,550,876 (GRCm39) V772F possibly damaging Het
Nbeal2 G T 9: 110,456,218 (GRCm39) T2417N probably benign Het
Or2ag17 A T 7: 106,389,296 (GRCm39) V304D probably damaging Het
Or6e1 T C 14: 54,520,148 (GRCm39) E68G probably damaging Het
Pan2 A T 10: 128,156,141 (GRCm39) H1133L probably damaging Het
Pgk2 A G 17: 40,518,735 (GRCm39) V231A possibly damaging Het
Psmd12 G A 11: 107,377,328 (GRCm39) R129Q probably null Het
Rpl23a G A 11: 78,072,021 (GRCm39) R139C probably benign Het
Sars2 G T 7: 28,446,246 (GRCm39) Q158H Het
Scd3 C T 19: 44,224,340 (GRCm39) P191L probably damaging Het
Serac1 C A 17: 6,111,890 (GRCm39) S262I probably damaging Het
Sh3bp1 A G 15: 78,794,209 (GRCm39) T526A probably benign Het
Slc26a3 A T 12: 31,520,958 (GRCm39) T721S probably benign Het
Slc8a1 A C 17: 81,955,479 (GRCm39) S520A probably benign Het
Sp9 A T 2: 73,103,613 (GRCm39) S56C probably damaging Het
Spire2 T A 8: 124,095,547 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,167 (GRCm39) L255R probably damaging Het
Tcp11l1 A G 2: 104,528,026 (GRCm39) I156T probably damaging Het
Tnrc6b G A 15: 80,763,349 (GRCm39) A284T probably benign Het
Trappc14 A T 5: 138,260,949 (GRCm39) V232E probably damaging Het
Tsc1 T A 2: 28,575,874 (GRCm39) L919H probably damaging Het
Vps13c T A 9: 67,828,209 (GRCm39) H1454Q probably benign Het
Vps41 T A 13: 19,027,702 (GRCm39) D537E probably benign Het
Wnt16 T A 6: 22,288,823 (GRCm39) C47S probably damaging Het
Zfhx2 C T 14: 55,310,027 (GRCm39) E840K possibly damaging Het
Zfp61 A T 7: 23,990,702 (GRCm39) V483E probably benign Het
Zfp870 A T 17: 33,102,793 (GRCm39) S179T probably benign Het
Other mutations in Nif3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Nif3l1 APN 1 58,494,845 (GRCm39) missense possibly damaging 0.56
IGL01657:Nif3l1 APN 1 58,494,771 (GRCm39) missense probably damaging 0.98
IGL02159:Nif3l1 APN 1 58,487,105 (GRCm39) splice site probably null
IGL02223:Nif3l1 APN 1 58,487,202 (GRCm39) nonsense probably null
IGL02407:Nif3l1 APN 1 58,496,956 (GRCm39) missense possibly damaging 0.87
IGL02435:Nif3l1 APN 1 58,487,020 (GRCm39) missense possibly damaging 0.91
IGL02676:Nif3l1 APN 1 58,494,895 (GRCm39) critical splice donor site probably null
IGL02721:Nif3l1 APN 1 58,497,008 (GRCm39) missense probably damaging 1.00
R0472:Nif3l1 UTSW 1 58,486,987 (GRCm39) missense probably damaging 1.00
R1036:Nif3l1 UTSW 1 58,487,032 (GRCm39) missense probably damaging 1.00
R1256:Nif3l1 UTSW 1 58,494,808 (GRCm39) missense probably damaging 0.99
R1439:Nif3l1 UTSW 1 58,487,102 (GRCm39) missense probably damaging 1.00
R1483:Nif3l1 UTSW 1 58,486,885 (GRCm39) missense probably benign 0.01
R2240:Nif3l1 UTSW 1 58,491,288 (GRCm39) missense probably benign 0.35
R4379:Nif3l1 UTSW 1 58,494,738 (GRCm39) intron probably benign
R4381:Nif3l1 UTSW 1 58,494,738 (GRCm39) intron probably benign
R4552:Nif3l1 UTSW 1 58,488,483 (GRCm39) unclassified probably benign
R6524:Nif3l1 UTSW 1 58,496,999 (GRCm39) missense probably benign 0.01
R6567:Nif3l1 UTSW 1 58,494,789 (GRCm39) missense probably benign 0.13
R6698:Nif3l1 UTSW 1 58,489,648 (GRCm39) missense probably benign 0.01
R7254:Nif3l1 UTSW 1 58,489,625 (GRCm39) missense probably benign 0.01
R7841:Nif3l1 UTSW 1 58,487,042 (GRCm39) missense probably damaging 1.00
R8358:Nif3l1 UTSW 1 58,491,288 (GRCm39) missense probably benign 0.01
R8903:Nif3l1 UTSW 1 58,486,653 (GRCm39) unclassified probably benign
R9645:Nif3l1 UTSW 1 58,487,074 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATCTAAGGCGTATGTATGTATG -3'
(R):5'- GGCAGGTAATAGCACGTGAC -3'

Sequencing Primer
(F):5'- CATGAAAATGAGTTCTGAGACGTTTC -3'
(R):5'- AGGAGTAGTAGCTCACACCTGTTC -3'
Posted On 2021-11-19