Incidental Mutation 'IGL02718:Nifk'
ID304845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nifk
Ensembl Gene ENSMUSG00000026377
Gene Namenucleolar protein interacting with the FHA domain of MKI67
SynonymsC130020J04Rik, Mki67ip
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL02718
Quality Score
Status
Chromosome1
Chromosomal Location118321839-118333822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 118327632 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 38 (N38T)
Ref Sequence ENSEMBL: ENSMUSP00000108308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027626] [ENSMUST00000112688] [ENSMUST00000161495]
Predicted Effect probably damaging
Transcript: ENSMUST00000027626
AA Change: N86T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027626
Gene: ENSMUSG00000026377
AA Change: N86T

DomainStartEndE-ValueType
low complexity region 34 43 N/A INTRINSIC
RRM 48 121 1.88e-19 SMART
low complexity region 168 181 N/A INTRINSIC
Pfam:hNIFK_binding 250 288 4.8e-26 PFAM
low complexity region 304 316 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112688
AA Change: N38T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108308
Gene: ENSMUSG00000026377
AA Change: N38T

DomainStartEndE-ValueType
Pfam:RRM_1 20 71 2e-8 PFAM
low complexity region 120 133 N/A INTRINSIC
Pfam:hNIFK_binding 202 241 9.6e-29 PFAM
low complexity region 256 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161495
AA Change: N59T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125006
Gene: ENSMUSG00000026377
AA Change: N59T

DomainStartEndE-ValueType
RRM 21 94 1.88e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,699,904 D41G probably damaging Het
2210408I21Rik T A 13: 77,174,872 Y7N probably damaging Het
4921507P07Rik G T 6: 50,584,387 T184K probably damaging Het
Atf1 C A 15: 100,254,219 Q151K probably damaging Het
Brdt T C 5: 107,350,068 probably benign Het
Cep295 T C 9: 15,325,753 probably null Het
Ctnnd2 A G 15: 31,027,616 S1229G probably damaging Het
Dcaf15 T A 8: 84,098,376 I476L possibly damaging Het
Dlec1 A G 9: 119,137,286 I1108V probably benign Het
Dnah9 T A 11: 65,886,640 H3694L probably damaging Het
Dock10 A T 1: 80,523,818 D1838E probably benign Het
Dusp12 A T 1: 170,880,657 Y164N probably damaging Het
Ephx1 A G 1: 180,999,786 F101L probably damaging Het
Fbn1 C A 2: 125,369,886 C864F probably damaging Het
Fbxw24 T C 9: 109,624,790 E96G possibly damaging Het
Glt1d1 C A 5: 127,650,699 F78L probably damaging Het
Gm9602 A T 14: 4,776,474 R21* probably null Het
Grip1 T A 10: 120,075,515 *713K probably null Het
Hecw1 T C 13: 14,306,935 probably null Het
Il31ra G A 13: 112,530,369 R392* probably null Het
L3hypdh T G 12: 72,084,856 S101R probably damaging Het
Lpar5 T A 6: 125,082,244 D309E probably damaging Het
Masp1 T C 16: 23,476,293 Y406C probably damaging Het
Mpdz T C 4: 81,385,202 I166M probably damaging Het
Nbea A T 3: 55,632,062 Y2759* probably null Het
Ncf1 A T 5: 134,227,448 probably null Het
Nek5 T G 8: 22,097,463 R314S probably benign Het
Obscn C T 11: 59,077,858 V2772M probably damaging Het
Olfr1367 T C 13: 21,347,384 L152P probably damaging Het
Olfr181 T C 16: 58,926,096 I158M possibly damaging Het
Olfr419 G T 1: 174,250,707 Y73* probably null Het
Olfr584 C A 7: 103,085,583 L22I probably benign Het
Olfr707 A T 7: 106,891,329 M260K probably damaging Het
Olfr979 A T 9: 40,000,886 Y114N probably damaging Het
Pbxip1 A G 3: 89,448,004 E610G probably damaging Het
Pfas G T 11: 69,000,145 probably benign Het
Plk4 T C 3: 40,815,021 S102P probably damaging Het
Ptprz1 C T 6: 23,001,349 T1146I possibly damaging Het
Pum2 T A 12: 8,733,344 S598T probably benign Het
Ric1 T A 19: 29,533,240 W74R probably damaging Het
Riok3 C A 18: 12,152,996 S427* probably null Het
Ros1 A T 10: 52,118,232 D1317E probably damaging Het
Sfmbt2 A G 2: 10,402,031 D47G possibly damaging Het
Slc12a1 C T 2: 125,161,079 R177* probably null Het
Snai3 C A 8: 122,456,122 probably null Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Soat1 A T 1: 156,441,429 S151T probably benign Het
Stbd1 A G 5: 92,603,218 E37G possibly damaging Het
Syt10 A G 15: 89,814,079 I354T probably damaging Het
Trip11 A C 12: 101,886,025 S593R probably benign Het
Ubr1 T C 2: 120,914,883 E908G probably damaging Het
Yy1 T C 12: 108,815,479 F357L probably damaging Het
Other mutations in Nifk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2198:Nifk UTSW 1 118329400 missense probably benign 0.05
R3982:Nifk UTSW 1 118329552 missense possibly damaging 0.95
R4636:Nifk UTSW 1 118329487 missense possibly damaging 0.46
R5061:Nifk UTSW 1 118332939 makesense probably null
R6913:Nifk UTSW 1 118332862 missense possibly damaging 0.85
R6931:Nifk UTSW 1 118332348 missense possibly damaging 0.94
R7471:Nifk UTSW 1 118332474 missense probably damaging 1.00
R7774:Nifk UTSW 1 118327661 missense possibly damaging 0.46
R8272:Nifk UTSW 1 118332404 missense probably benign 0.16
Z1177:Nifk UTSW 1 118321900 missense probably benign 0.00
Posted On2015-04-16