Incidental Mutation 'R0825:Ift27'
ID 78198
Institutional Source Beutler Lab
Gene Symbol Ift27
Ensembl Gene ENSMUSG00000016637
Gene Name intraflagellar transport 27
Synonyms Rabl4, 2600013G09Rik
MMRRC Submission 039005-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0825 (G1)
Quality Score 203
Status Validated
Chromosome 15
Chromosomal Location 78043660-78058281 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 78049336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016781] [ENSMUST00000229476] [ENSMUST00000230844]
AlphaFold Q9D0P8
Predicted Effect probably benign
Transcript: ENSMUST00000016781
SMART Domains Protein: ENSMUSP00000016781
Gene: ENSMUSG00000016637

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 benign
Transcript: ENSMUST00000229476
Predicted Effect probably benign
Transcript: ENSMUST00000230844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231069
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 98% (46/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,619,551 (GRCm39) I963N probably damaging Het
Aox4 A G 1: 58,288,068 (GRCm39) D727G possibly damaging Het
Arhgef26 T A 3: 62,334,014 (GRCm39) I590N probably damaging Het
Arid1b T G 17: 5,392,453 (GRCm39) C1994W probably damaging Het
Chd9 T C 8: 91,777,825 (GRCm39) I2628T probably benign Het
Clspn G A 4: 126,466,923 (GRCm39) probably benign Het
Cyp2a4 A T 7: 26,012,341 (GRCm39) T375S probably benign Het
Dmtf1 A T 5: 9,180,388 (GRCm39) M226K probably damaging Het
Erap1 T C 13: 74,822,733 (GRCm39) probably benign Het
Frmpd1 A G 4: 45,285,394 (GRCm39) D1405G possibly damaging Het
Gfm2 A T 13: 97,279,612 (GRCm39) probably benign Het
Ghsr T C 3: 27,428,776 (GRCm39) V267A probably damaging Het
Golga2 A C 2: 32,194,803 (GRCm39) Q650P probably damaging Het
Hmgcl A G 4: 135,687,381 (GRCm39) T219A probably benign Het
Igfn1 C T 1: 135,890,864 (GRCm39) E2379K probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kpnb1 A T 11: 97,062,501 (GRCm39) S421R probably damaging Het
Minar1 G A 9: 89,485,332 (GRCm39) Q22* probably null Het
Mtx3 C A 13: 92,986,849 (GRCm39) T264K probably damaging Het
Nrg3 G A 14: 39,194,348 (GRCm39) P137L possibly damaging Het
Nt5c2 A G 19: 46,887,344 (GRCm39) probably benign Het
Or2y1e T A 11: 49,218,509 (GRCm39) H90Q probably benign Het
Or5ac17 G T 16: 59,036,813 (GRCm39) H54Q possibly damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd5 G A 7: 35,346,338 (GRCm39) R91W possibly damaging Het
Pxdn G A 12: 30,034,995 (GRCm39) probably benign Het
Rgl2 T A 17: 34,154,133 (GRCm39) probably null Het
Rnf217 T C 10: 31,393,453 (GRCm39) D376G probably damaging Het
Septin9 C T 11: 117,250,286 (GRCm39) L519F probably damaging Het
Slc15a5 C T 6: 137,995,087 (GRCm39) C386Y possibly damaging Het
Srrm4 T A 5: 116,591,772 (GRCm39) I256F unknown Het
Stab1 G T 14: 30,874,557 (GRCm39) D950E probably benign Het
Stim2 A G 5: 54,275,825 (GRCm39) T667A probably benign Het
Strbp A T 2: 37,525,539 (GRCm39) N144K probably benign Het
Sync A G 4: 129,187,190 (GRCm39) Y74C probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tgfbi T C 13: 56,786,523 (GRCm39) probably benign Het
Tmf1 A T 6: 97,152,956 (GRCm39) N372K probably benign Het
Ubr4 G T 4: 139,206,887 (GRCm39) probably null Het
Uggt1 A T 1: 36,197,224 (GRCm39) N1226K probably benign Het
Ugt2b34 T C 5: 87,054,560 (GRCm39) I74V possibly damaging Het
Wdfy3 A G 5: 102,017,917 (GRCm39) L2541P probably damaging Het
Zfhx3 T G 8: 109,675,840 (GRCm39) F2297V probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGGAAACATCCATTCGGAACACAGC -3'
(R):5'- AGAGTCCCTGTCACATCCCTAAAGC -3'

Sequencing Primer
(F):5'- TCGGAACACAGCGCCTTC -3'
(R):5'- AAAGCAGGCTTCTCCTGTC -3'
Posted On 2013-10-16