Incidental Mutation 'IGL02718:Nifk'
ID 304845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nifk
Ensembl Gene ENSMUSG00000026377
Gene Name nucleolar protein interacting with the FHA domain of MKI67
Synonyms Mki67ip, C130020J04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL02718
Quality Score
Status
Chromosome 1
Chromosomal Location 118249569-118261552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118255362 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91VE6
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: 30,399,329 (GRCm39) D41G probably damaging Het
2210408I21Rik T A 13: 77,322,991 (GRCm39) Y7N probably damaging Het
Atf1 C A 15: 100,152,100 (GRCm39) Q151K probably damaging Het
Brdt T C 5: 107,497,934 (GRCm39) probably benign Het
Cep295 T C 9: 15,237,049 (GRCm39) probably null Het
Ctnnd2 A G 15: 31,027,762 (GRCm39) S1229G probably damaging Het
Dcaf15 T A 8: 84,825,005 (GRCm39) I476L possibly damaging Het
Dlec1 A G 9: 118,966,354 (GRCm39) I1108V probably benign Het
Dnah9 T A 11: 65,777,466 (GRCm39) H3694L probably damaging Het
Dock10 A T 1: 80,501,535 (GRCm39) D1838E probably benign Het
Dusp12 A T 1: 170,708,226 (GRCm39) Y164N probably damaging Het
Ephx1 A G 1: 180,827,351 (GRCm39) F101L probably damaging Het
Fbn1 C A 2: 125,211,806 (GRCm39) C864F probably damaging Het
Fbxw24 T C 9: 109,453,858 (GRCm39) E96G possibly damaging Het
Glt1d1 C A 5: 127,727,763 (GRCm39) F78L probably damaging Het
Gm9602 A T 14: 15,932,620 (GRCm39) R21* probably null Het
Grip1 T A 10: 119,911,420 (GRCm39) *713K probably null Het
Hecw1 T C 13: 14,481,520 (GRCm39) probably null Het
Il31ra G A 13: 112,666,903 (GRCm39) R392* probably null Het
L3hypdh T G 12: 72,131,630 (GRCm39) S101R probably damaging Het
Lpar5 T A 6: 125,059,207 (GRCm39) D309E probably damaging Het
Masp1 T C 16: 23,295,043 (GRCm39) Y406C probably damaging Het
Mpdz T C 4: 81,303,439 (GRCm39) I166M probably damaging Het
Nbea A T 3: 55,539,483 (GRCm39) Y2759* probably null Het
Ncf1 A T 5: 134,256,302 (GRCm39) probably null Het
Nek5 T G 8: 22,587,479 (GRCm39) R314S probably benign Het
Obscn C T 11: 58,968,684 (GRCm39) V2772M probably damaging Het
Or10g9 A T 9: 39,912,182 (GRCm39) Y114N probably damaging Het
Or10z1 G T 1: 174,078,273 (GRCm39) Y73* probably null Het
Or2b28 T C 13: 21,531,554 (GRCm39) L152P probably damaging Het
Or2d3 A T 7: 106,490,536 (GRCm39) M260K probably damaging Het
Or52r1c C A 7: 102,734,790 (GRCm39) L22I probably benign Het
Or5k17 T C 16: 58,746,459 (GRCm39) I158M possibly damaging Het
Pbxip1 A G 3: 89,355,311 (GRCm39) E610G probably damaging Het
Pfas G T 11: 68,890,971 (GRCm39) probably benign Het
Plk4 T C 3: 40,769,456 (GRCm39) S102P probably damaging Het
Ptprz1 C T 6: 23,001,348 (GRCm39) T1146I possibly damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Ric1 T A 19: 29,510,640 (GRCm39) W74R probably damaging Het
Riok3 C A 18: 12,286,053 (GRCm39) S427* probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Sfmbt2 A G 2: 10,406,842 (GRCm39) D47G possibly damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Snai3 C A 8: 123,182,861 (GRCm39) probably null Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Soat1 A T 1: 156,268,999 (GRCm39) S151T probably benign Het
Spmip4 G T 6: 50,561,367 (GRCm39) T184K probably damaging Het
Stbd1 A G 5: 92,751,077 (GRCm39) E37G possibly damaging Het
Syt10 A G 15: 89,698,282 (GRCm39) I354T probably damaging Het
Trip11 A C 12: 101,852,284 (GRCm39) S593R probably benign Het
Ubr1 T C 2: 120,745,364 (GRCm39) E908G probably damaging Het
Yy1 T C 12: 108,781,405 (GRCm39) F357L probably damaging Het
Other mutations in Nifk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2198:Nifk UTSW 1 118,257,130 (GRCm39) missense probably benign 0.05
R3982:Nifk UTSW 1 118,257,282 (GRCm39) missense possibly damaging 0.95
R4636:Nifk UTSW 1 118,257,217 (GRCm39) missense possibly damaging 0.46
R5061:Nifk UTSW 1 118,260,669 (GRCm39) makesense probably null
R6913:Nifk UTSW 1 118,260,592 (GRCm39) missense possibly damaging 0.85
R6931:Nifk UTSW 1 118,260,078 (GRCm39) missense possibly damaging 0.94
R7471:Nifk UTSW 1 118,260,204 (GRCm39) missense probably damaging 1.00
R7774:Nifk UTSW 1 118,255,391 (GRCm39) missense possibly damaging 0.46
R8272:Nifk UTSW 1 118,260,134 (GRCm39) missense probably benign 0.16
R9566:Nifk UTSW 1 118,260,492 (GRCm39) missense probably damaging 1.00
Z1177:Nifk UTSW 1 118,249,630 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16