Incidental Mutation 'IGL02885:Ift25'
ID 362957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift25
Ensembl Gene ENSMUSG00000063172
Gene Name intraflagellar transport 25
Synonyms 2900042B11Rik, Hspb11
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02885
Quality Score
Status
Chromosome 4
Chromosomal Location 107110889-107137135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107130866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 52 (C52Y)
Ref Sequence ENSEMBL: ENSMUSP00000118617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
AlphaFold Q9D6H2
Predicted Effect possibly damaging
Transcript: ENSMUST00000046558
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106749
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
PDB:1XPW|A 1 142 2e-88 PDB
SCOP:d1jhja_ 15 120 5e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137911
Predicted Effect possibly damaging
Transcript: ENSMUST00000152717
AA Change: C52Y

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172
AA Change: C52Y

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show fetal growth retardation and complete neonatal death due to severe structural heart defects. Omphalocele, polydactyly, left pulmonary isomerism, and skeletal defects such as micrognathia, cleft palate, malaligned sternal vertebrae, and a small rib cage are often observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,152 (GRCm39) N683S probably benign Het
Ahi1 T A 10: 20,931,012 (GRCm39) F46I possibly damaging Het
Als2 C T 1: 59,206,650 (GRCm39) V1598I probably benign Het
Arid1b A T 17: 5,392,428 (GRCm39) D1986V probably damaging Het
Bhlhe41 T A 6: 145,810,989 (GRCm39) D2V probably damaging Het
Borcs6 A G 11: 68,951,072 (GRCm39) D150G possibly damaging Het
Ccdc88a G T 11: 29,398,050 (GRCm39) R261L probably damaging Het
Ccne2 T A 4: 11,198,723 (GRCm39) probably benign Het
Cenpk A G 13: 104,385,903 (GRCm39) D266G probably damaging Het
Ces2b T C 8: 105,561,563 (GRCm39) V219A probably damaging Het
Cpa1 A G 6: 30,645,169 (GRCm39) R382G probably damaging Het
Cplx4 G T 18: 66,089,984 (GRCm39) T145N probably damaging Het
Cyp19a1 T C 9: 54,079,102 (GRCm39) I269V probably benign Het
Dennd3 A G 15: 73,440,545 (GRCm39) Y1192C probably benign Het
Dpp6 T C 5: 27,923,471 (GRCm39) Y694H probably damaging Het
Eea1 C A 10: 95,877,346 (GRCm39) N1353K probably benign Het
Fam111a T A 19: 12,561,488 (GRCm39) probably null Het
Fat1 T C 8: 45,442,204 (GRCm39) S1169P probably benign Het
Frk G T 10: 34,360,067 (GRCm39) A23S probably benign Het
Fyb2 T C 4: 104,861,118 (GRCm39) V594A probably damaging Het
Gtpbp3 C A 8: 71,942,064 (GRCm39) probably benign Het
Hoxa5 G T 6: 52,179,688 (GRCm39) A229D probably damaging Het
Igf2r A T 17: 12,913,007 (GRCm39) F1780L possibly damaging Het
Jade2 A T 11: 51,722,123 (GRCm39) D143E probably damaging Het
Kdm1a T C 4: 136,279,846 (GRCm39) I719V probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lmx1b G T 2: 33,457,216 (GRCm39) Q206K probably benign Het
Lrrtm4 G A 6: 79,998,786 (GRCm39) G66D probably damaging Het
Myg1 G T 15: 102,240,594 (GRCm39) G90C probably damaging Het
Nbea C T 3: 55,539,407 (GRCm39) V2785I probably benign Het
Ncr1 C A 7: 4,341,225 (GRCm39) P35Q probably damaging Het
Nos1 T A 5: 118,033,855 (GRCm39) C326S probably damaging Het
Or12j2 T C 7: 139,916,072 (GRCm39) F99S possibly damaging Het
Or3a1 G T 11: 74,225,519 (GRCm39) H179Q possibly damaging Het
Or52r1 A T 7: 102,537,243 (GRCm39) V39E possibly damaging Het
Pde4d A G 13: 110,084,795 (GRCm39) Y520C probably damaging Het
Ppm1d A G 11: 85,217,770 (GRCm39) M178V possibly damaging Het
Samd3 G A 10: 26,147,762 (GRCm39) R479K probably benign Het
Semp2l2b T A 10: 21,943,057 (GRCm39) I308F possibly damaging Het
Serpinb6a A G 13: 34,102,782 (GRCm39) V226A probably benign Het
Slc26a4 T C 12: 31,575,475 (GRCm39) E737G probably benign Het
Slc34a3 A G 2: 25,121,069 (GRCm39) C340R probably damaging Het
Spata31d1b C A 13: 59,866,941 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,013 (GRCm39) V173A probably benign Het
Vmn2r66 A T 7: 84,644,723 (GRCm39) D562E probably benign Het
Zfp395 C T 14: 65,633,344 (GRCm39) P451L probably benign Het
Other mutations in Ift25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Ift25 APN 4 107,132,449 (GRCm39) missense probably benign 0.02
IGL02833:Ift25 APN 4 107,132,492 (GRCm39) splice site probably benign
IGL02978:Ift25 APN 4 107,132,471 (GRCm39) missense probably damaging 1.00
R2076:Ift25 UTSW 4 107,136,964 (GRCm39) missense possibly damaging 0.92
R3402:Ift25 UTSW 4 107,130,803 (GRCm39) splice site probably null
R5286:Ift25 UTSW 4 107,136,998 (GRCm39) missense probably damaging 0.97
R7691:Ift25 UTSW 4 107,130,886 (GRCm39) missense probably benign 0.01
R7982:Ift25 UTSW 4 107,132,480 (GRCm39) missense probably benign 0.40
Posted On 2015-12-18