Incidental Mutation 'IGL00465:Nif3l1'
ID 332134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nif3l1
Ensembl Gene ENSMUSG00000026036
Gene Name Ngg1 interacting factor 3-like 1 (S. pombe)
Synonyms 1110030G24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.389) question?
Stock # IGL00465
Quality Score
Status
Chromosome 1
Chromosomal Location 58484310-58501435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58494845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 271 (H271Q)
Ref Sequence ENSEMBL: ENSMUSP00000109976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000171597]
AlphaFold Q9EQ80
Predicted Effect probably benign
Transcript: ENSMUST00000087521
AA Change: H271Q

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: H271Q

DomainStartEndE-ValueType
Pfam:NIF3 31 363 1.9e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114337
AA Change: H271Q

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: H271Q

DomainStartEndE-ValueType
Pfam:NIF3 31 324 4e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140723
Predicted Effect probably benign
Transcript: ENSMUST00000171597
AA Change: H271Q

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: H271Q

DomainStartEndE-ValueType
Pfam:NIF3 31 363 2.5e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188295
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Nxn C A 11: 76,165,481 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Nif3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9057:Nif3l1 UTSW 1 58,489,648 (GRCm39) missense probably benign 0.01
R9645:Nif3l1 UTSW 1 58,487,074 (GRCm39) missense probably benign
Posted On 2015-08-05