Incidental Mutation 'IGL03292:Ift52'
ID 415925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift52
Ensembl Gene ENSMUSG00000017858
Gene Name intraflagellar transport 52
Synonyms NGD5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03292
Quality Score
Status
Chromosome 2
Chromosomal Location 162859274-162888061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 162865320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 57 (I57N)
Ref Sequence ENSEMBL: ENSMUSP00000018002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018002] [ENSMUST00000150396]
AlphaFold Q62559
Predicted Effect probably damaging
Transcript: ENSMUST00000018002
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: I57N

DomainStartEndE-ValueType
Pfam:ABC_transp_aux 1 116 1.8e-13 PFAM
low complexity region 340 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125144
Predicted Effect probably damaging
Transcript: ENSMUST00000150396
AA Change: I57N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: I57N

DomainStartEndE-ValueType
Pfam:ABC_transp_aux 3 117 4.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152201
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 conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,827 (GRCm39) C713Y possibly damaging Het
Arhgap45 A G 10: 79,856,803 (GRCm39) N205S probably benign Het
Arhgef5 T G 6: 43,257,180 (GRCm39) F1244V probably damaging Het
Bbs2 A G 8: 94,801,749 (GRCm39) probably null Het
Chsy1 A C 7: 65,775,120 (GRCm39) M150L probably benign Het
Dync1h1 T A 12: 110,632,989 (GRCm39) probably null Het
Efhc1 T C 1: 21,030,496 (GRCm39) I143T possibly damaging Het
Elf4 A C X: 47,503,583 (GRCm39) F642C probably damaging Het
Fgfr1 A G 8: 26,047,771 (GRCm39) D128G possibly damaging Het
Fras1 T A 5: 96,855,350 (GRCm39) I1953N probably damaging Het
Frmpd4 A T X: 166,260,586 (GRCm39) I1052K probably benign Het
Lilrb4a G A 10: 51,370,942 (GRCm39) probably null Het
Mob3a A T 10: 80,526,920 (GRCm39) I135N probably benign Het
Pcdhb16 T A 18: 37,613,437 (GRCm39) I799N probably damaging Het
Rad52 T C 6: 119,895,934 (GRCm39) L265P possibly damaging Het
Sorbs1 T A 19: 40,362,009 (GRCm39) Q155L possibly damaging Het
Taok1 A T 11: 77,430,962 (GRCm39) M821K probably benign Het
Tars1 T A 15: 11,384,107 (GRCm39) E720V probably benign Het
Tec T C 5: 72,914,707 (GRCm39) E603G probably null Het
Timp1 A G X: 20,739,057 (GRCm39) T56A probably benign Het
Txnrd2 C A 16: 18,296,479 (GRCm39) H511Q possibly damaging Het
Ubr4 A T 4: 139,167,746 (GRCm39) D2743V probably damaging Het
Vmn1r211 C T 13: 23,036,613 (GRCm39) G18D probably damaging Het
Zfhx4 C T 3: 5,476,840 (GRCm39) Q3127* probably null Het
Other mutations in Ift52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02006:Ift52 APN 2 162,865,289 (GRCm39) missense probably benign 0.00
IGL02164:Ift52 APN 2 162,867,384 (GRCm39) splice site probably null
IGL02657:Ift52 APN 2 162,887,135 (GRCm39) missense probably damaging 1.00
IGL02876:Ift52 APN 2 162,878,627 (GRCm39) missense probably benign 0.01
IGL03136:Ift52 APN 2 162,867,254 (GRCm39) nonsense probably null
R1115:Ift52 UTSW 2 162,871,702 (GRCm39) missense probably benign 0.34
R1502:Ift52 UTSW 2 162,871,782 (GRCm39) critical splice donor site probably null
R1775:Ift52 UTSW 2 162,867,275 (GRCm39) missense possibly damaging 0.79
R2204:Ift52 UTSW 2 162,873,150 (GRCm39) missense probably benign 0.07
R2259:Ift52 UTSW 2 162,870,013 (GRCm39) missense probably benign 0.04
R2348:Ift52 UTSW 2 162,887,177 (GRCm39) missense probably damaging 0.99
R4820:Ift52 UTSW 2 162,873,108 (GRCm39) missense probably benign 0.06
R5464:Ift52 UTSW 2 162,871,735 (GRCm39) missense probably benign 0.20
R7054:Ift52 UTSW 2 162,871,716 (GRCm39) missense probably damaging 0.98
Z1088:Ift52 UTSW 2 162,865,278 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02