Incidental Mutation 'IGL02006:Ift52'
ID 183194
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 # IGL02006
Quality Score
Status
Chromosome 2
Chromosomal Location 162859274-162888061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162865289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 47 (S47P)
Ref Sequence ENSEMBL: ENSMUSP00000121943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018002] [ENSMUST00000150396]
AlphaFold Q62559
Predicted Effect probably benign
Transcript: ENSMUST00000018002
AA Change: S47P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: S47P

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 benign
Transcript: ENSMUST00000150396
AA Change: S47P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: S47P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,117,582 (GRCm39) G182S probably damaging Het
Akr1b7 A T 6: 34,392,385 (GRCm39) N66I probably benign Het
Arrdc3 T A 13: 81,031,893 (GRCm39) I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 (GRCm39) A316E probably damaging Het
Atp8a2 A G 14: 60,094,497 (GRCm39) V847A possibly damaging Het
Ccdc171 A G 4: 83,713,479 (GRCm39) N1173D possibly damaging Het
Crb2 A C 2: 37,676,475 (GRCm39) D152A probably damaging Het
Ecm1 T C 3: 95,641,557 (GRCm39) E559G probably damaging Het
Ephb1 A G 9: 102,071,971 (GRCm39) probably null Het
Fndc11 C A 2: 180,863,884 (GRCm39) R230S probably damaging Het
Frem1 A G 4: 82,911,037 (GRCm39) probably null Het
Fyco1 G A 9: 123,658,896 (GRCm39) Q427* probably null Het
Gm17541 A G 12: 4,739,619 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,330 (GRCm39) V809M probably damaging Het
Gm7293 A G 9: 51,534,043 (GRCm39) noncoding transcript Het
Iqcf6 A G 9: 106,504,510 (GRCm39) D58G probably benign Het
Itm2b T C 14: 73,600,488 (GRCm39) probably benign Het
Jakmip1 T C 5: 37,278,331 (GRCm39) I536T probably damaging Het
Kcnh1 T G 1: 191,873,323 (GRCm39) M3R possibly damaging Het
Kcnh5 G T 12: 74,944,322 (GRCm39) P976T probably damaging Het
Layn G A 9: 50,968,591 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,347,317 (GRCm39) Q3126L probably damaging Het
Meioc A T 11: 102,565,092 (GRCm39) D180V probably damaging Het
Myo15a T A 11: 60,401,954 (GRCm39) C3066S probably damaging Het
Nbeal1 T C 1: 60,311,418 (GRCm39) probably null Het
Negr1 T C 3: 156,721,810 (GRCm39) probably benign Het
Nek1 T A 8: 61,557,226 (GRCm39) N940K probably benign Het
Nfkbib A T 7: 28,465,667 (GRCm39) probably null Het
Nol4 T A 18: 23,054,975 (GRCm39) T152S probably damaging Het
Oas3 G T 5: 120,907,300 (GRCm39) R446S probably benign Het
Oosp3 C T 19: 11,676,784 (GRCm39) L48F probably damaging Het
Or2r3 A G 6: 42,449,025 (GRCm39) V29A probably benign Het
Or2w25 T C 11: 59,503,985 (GRCm39) L65P probably damaging Het
Pik3ap1 C A 19: 41,291,032 (GRCm39) W500L probably benign Het
Ppih A G 4: 119,168,779 (GRCm39) probably benign Het
Ro60 G T 1: 143,636,084 (GRCm39) probably benign Het
Slc7a15 T C 12: 8,585,508 (GRCm39) probably null Het
Srl T C 16: 4,315,150 (GRCm39) E164G probably benign Het
Tbx10 C A 19: 4,048,186 (GRCm39) T237K probably damaging Het
Vwa5b2 T C 16: 20,415,843 (GRCm39) V392A probably damaging Het
Wfdc5 A T 2: 164,024,483 (GRCm39) probably benign Het
Xirp2 T C 2: 67,342,306 (GRCm39) F1516L possibly damaging Het
Znfx1 A G 2: 166,897,683 (GRCm39) C414R probably damaging Het
Other mutations in Ift52
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03292:Ift52 APN 2 162,865,320 (GRCm39) missense probably damaging 1.00
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 2014-05-07