Incidental Mutation 'IGL02159:Nif3l1'
ID 282366
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
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.443) question?
Stock # IGL02159
Quality Score
Status
Chromosome 1
Chromosomal Location 58445151-58481816 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 58447946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000129759] [ENSMUST00000151272] [ENSMUST00000171597] [ENSMUST00000190048] [ENSMUST00000185990]
AlphaFold Q9EQ80
Predicted Effect probably null
Transcript: ENSMUST00000081677
SMART Domains Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087521
AA Change: R97L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: R97L

DomainStartEndE-ValueType
Pfam:NIF3 31 363 1.9e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114337
AA Change: R97L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: R97L

DomainStartEndE-ValueType
Pfam:NIF3 31 324 4e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114345
SMART Domains Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 120 8.5e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114348
SMART Domains Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117069
SMART Domains Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124550
Predicted Effect probably benign
Transcript: ENSMUST00000129759
AA Change: R97L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036
AA Change: R97L

DomainStartEndE-ValueType
Pfam:NIF3 31 154 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140723
Predicted Effect probably benign
Transcript: ENSMUST00000151272
AA Change: R97L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036
AA Change: R97L

DomainStartEndE-ValueType
Pfam:NIF3 31 131 3.1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171597
AA Change: R97L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: R97L

DomainStartEndE-ValueType
Pfam:NIF3 31 363 2.5e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190048
SMART Domains Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 91 3.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000185990
SMART Domains Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 90 1.1e-26 PFAM
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Nif3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Nif3l1 APN 1 58455686 missense possibly damaging 0.56
IGL01657:Nif3l1 APN 1 58455612 missense probably damaging 0.98
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
R8358:Nif3l1 UTSW 1 58452129 missense probably benign 0.01
R8903:Nif3l1 UTSW 1 58447494 unclassified probably benign
R9057:Nif3l1 UTSW 1 58450489 missense probably benign 0.01
R9645:Nif3l1 UTSW 1 58447915 missense probably benign
Posted On 2015-04-16