Incidental Mutation 'IGL00465:Nif3l1'
ID332134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nif3l1
Ensembl Gene ENSMUSG00000026036
Gene NameNgg1 interacting factor 3-like 1 (S. pombe)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.412) question?
Stock #IGL00465
Quality Score
Status
Chromosome1
Chromosomal Location58445151-58481816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 58455686 bp
ZygosityHeterozygous
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]
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
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
C4bp A T 1: 130,639,134 L335Q probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Gucy1b2 T G 14: 62,403,200 Q752P probably benign Het
Hal T C 10: 93,490,069 probably null Het
Hao1 C A 2: 134,554,270 K21N probably damaging Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Rps6kl1 A G 12: 85,139,429 S276P probably benign Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zbtb3 A G 19: 8,803,665 D214G possibly damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in Nif3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Nif3l1 APN 1 58455612 missense probably damaging 0.98
IGL02159:Nif3l1 APN 1 58447946 unclassified probably null
IGL02223:Nif3l1 APN 1 58448043 nonsense probably null
IGL02407:Nif3l1 APN 1 58457797 missense possibly damaging 0.87
IGL02435:Nif3l1 APN 1 58447861 missense possibly damaging 0.91
IGL02676:Nif3l1 APN 1 58455736 critical splice donor site probably null
IGL02721:Nif3l1 APN 1 58457849 missense probably damaging 1.00
R0472:Nif3l1 UTSW 1 58447828 missense probably damaging 1.00
R1036:Nif3l1 UTSW 1 58447873 missense probably damaging 1.00
R1256:Nif3l1 UTSW 1 58455649 missense probably damaging 0.99
R1439:Nif3l1 UTSW 1 58447943 missense probably damaging 1.00
R1483:Nif3l1 UTSW 1 58447726 missense probably benign 0.01
R2240:Nif3l1 UTSW 1 58452129 missense probably benign 0.35
R4379:Nif3l1 UTSW 1 58455579 intron probably benign
R4381:Nif3l1 UTSW 1 58455579 intron probably benign
R4552:Nif3l1 UTSW 1 58449324 unclassified probably benign
R6524:Nif3l1 UTSW 1 58457840 missense probably benign 0.01
R6567:Nif3l1 UTSW 1 58455630 missense probably benign 0.13
R6698:Nif3l1 UTSW 1 58450489 missense probably benign 0.01
R7254:Nif3l1 UTSW 1 58450466 missense probably benign 0.01
R7841:Nif3l1 UTSW 1 58447883 missense probably damaging 1.00
R7924:Nif3l1 UTSW 1 58447883 missense probably damaging 1.00
Posted On2015-08-05