Incidental Mutation 'R4881:Ift27'
ID 375303
Institutional Source Beutler Lab
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 # R4881 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78043660-78058281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78049448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 84 (V84D)
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: V84D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016781
Gene: ENSMUSG00000016637
AA Change: V84D

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 possibly damaging
Transcript: ENSMUST00000229476
AA Change: V74D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000230844
AA Change: V61D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231069
Meta Mutation Damage Score 0.7182 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
F2r A T 13: 95,754,837 (GRCm39) C16S possibly damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or2y1e T A 11: 49,219,124 (GRCm39) D295E probably benign Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Pou1f1 C T 16: 65,328,728 (GRCm39) T149I probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmpo G A 10: 90,998,503 (GRCm39) P428L possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in Ift27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03308:Ift27 APN 15 78,050,215 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGGATTCAGGCTCCTGTTC -3'
(R):5'- CCTTCATCTGTGGTGACCTG -3'

Sequencing Primer
(F):5'- GCTTGCACAGTGACCTGATGAG -3'
(R):5'- TGGTGACCTGTGGCCATC -3'
Posted On 2016-03-17