Incidental Mutation 'IGL03308:Ift27'
ID 416444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift27
Ensembl Gene ENSMUSG00000016637
Gene Name intraflagellar transport 27
Synonyms Rabl4, 2600013G09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03308
Quality Score
Status
Chromosome 15
Chromosomal Location 78043660-78058281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78050215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000016781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016781] [ENSMUST00000229476] [ENSMUST00000230844]
AlphaFold Q9D0P8
Predicted Effect probably damaging
Transcript: ENSMUST00000016781
AA Change: S65P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000016781
Gene: ENSMUSG00000016637
AA Change: S65P

DomainStartEndE-ValueType
Pfam:Roc 7 127 5.8e-20 PFAM
Pfam:Ras 7 173 2.2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229417
Predicted Effect probably damaging
Transcript: ENSMUST00000229476
AA Change: S55P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000230844
AA Change: S42P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231069
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 GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice die shortly after birth showing multiple structural birth defects, including heart, lung, skeletal, and brain abnormalities, associated with abnormal Hedgehog signaling. Hair follicle development is severely impaired but formation of the ciliary axoneme is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,821 (GRCm39) I216V probably damaging Het
Abcc1 A G 16: 14,288,475 (GRCm39) I1367V possibly damaging Het
Ap1g2 T A 14: 55,342,333 (GRCm39) I175F probably benign Het
Atad2 A G 15: 57,965,919 (GRCm39) V671A probably benign Het
Ccdc134 A G 15: 82,015,721 (GRCm39) D67G probably damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Col3a1 A G 1: 45,369,777 (GRCm39) probably benign Het
Col5a3 A G 9: 20,719,675 (GRCm39) L228P unknown Het
Eef1a2 A G 2: 180,790,629 (GRCm39) probably benign Het
Fars2 T G 13: 36,388,670 (GRCm39) I53R possibly damaging Het
Frmd4a G T 2: 4,502,837 (GRCm39) A98S possibly damaging Het
Gprin1 T A 13: 54,887,957 (GRCm39) M106L probably benign Het
Hspb8 T C 5: 116,547,401 (GRCm39) T194A possibly damaging Het
Inpp5d A C 1: 87,630,919 (GRCm39) Y430S probably damaging Het
Kat6b T C 14: 21,674,902 (GRCm39) S356P probably damaging Het
Limch1 C T 5: 67,159,901 (GRCm39) T443M possibly damaging Het
Mcf2l C T 8: 13,059,512 (GRCm39) R708C probably damaging Het
Mlf1 T C 3: 67,305,140 (GRCm39) W214R probably damaging Het
Naga A T 15: 82,220,088 (GRCm39) L153Q probably damaging Het
Nbas A G 12: 13,374,349 (GRCm39) Q559R possibly damaging Het
Or2ab1 T C 11: 58,488,525 (GRCm39) F101S probably damaging Het
Or2t6 T A 14: 14,175,161 (GRCm38) H307L probably benign Het
Prex2 A G 1: 11,255,399 (GRCm39) D1148G possibly damaging Het
Prss23 A C 7: 89,158,938 (GRCm39) L377R probably benign Het
Ptprc G T 1: 138,054,058 (GRCm39) T27K possibly damaging Het
Rnf213 A G 11: 119,364,998 (GRCm39) T4553A probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Skint3 T C 4: 112,111,264 (GRCm39) F130L probably damaging Het
Slc8a1 A G 17: 81,749,624 (GRCm39) probably benign Het
Stau1 T C 2: 166,792,240 (GRCm39) N433D probably damaging Het
Tapbpl G A 6: 125,205,142 (GRCm39) A268V possibly damaging Het
Tmem131l T C 3: 83,848,209 (GRCm39) I314V probably benign Het
Tmem44 A G 16: 30,362,566 (GRCm39) W151R probably damaging Het
Tnnc1 T C 14: 30,931,798 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,461 (GRCm39) N530T probably damaging Het
Ttn A G 2: 76,576,907 (GRCm39) I24662T probably damaging Het
Vmn1r49 A T 6: 90,049,341 (GRCm39) H220Q possibly damaging Het
Vmn2r106 A T 17: 20,498,785 (GRCm39) C375* probably null Het
Vps26b T C 9: 26,940,796 (GRCm39) Y41C probably damaging Het
Wdr64 T C 1: 175,594,562 (GRCm39) probably benign Het
Xylt1 C T 7: 117,236,978 (GRCm39) Q576* probably null Het
Zfp106 T C 2: 120,354,505 (GRCm39) D1422G probably benign Het
Other mutations in Ift27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0465:Ift27 UTSW 15 78,057,958 (GRCm39) unclassified probably benign
R0825:Ift27 UTSW 15 78,049,336 (GRCm39) splice site probably benign
R1483:Ift27 UTSW 15 78,049,436 (GRCm39) missense possibly damaging 0.94
R1776:Ift27 UTSW 15 78,050,181 (GRCm39) missense probably null 0.50
R1823:Ift27 UTSW 15 78,057,978 (GRCm39) missense possibly damaging 0.89
R4881:Ift27 UTSW 15 78,049,448 (GRCm39) missense probably damaging 0.99
R4945:Ift27 UTSW 15 78,048,454 (GRCm39) missense probably damaging 1.00
R5834:Ift27 UTSW 15 78,049,443 (GRCm39) missense probably damaging 0.96
R6046:Ift27 UTSW 15 78,057,981 (GRCm39) missense possibly damaging 0.55
R8420:Ift27 UTSW 15 78,048,391 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02