Incidental Mutation 'IGL03136:Ift52'
ID 410519
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 # IGL03136
Quality Score
Status
Chromosome 2
Chromosomal Location 162859274-162888061 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 162867254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 71 (E71*)
Ref Sequence ENSEMBL: ENSMUSP00000121943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018002] [ENSMUST00000150396]
AlphaFold Q62559
Predicted Effect probably null
Transcript: ENSMUST00000018002
AA Change: E71*
SMART Domains Protein: ENSMUSP00000018002
Gene: ENSMUSG00000017858
AA Change: E71*

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 null
Transcript: ENSMUST00000150396
AA Change: E71*
SMART Domains Protein: ENSMUSP00000121943
Gene: ENSMUSG00000017858
AA Change: E71*

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* 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
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 2016-08-02