Incidental Mutation 'IGL02833:Ift25'
ID 361551
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 # IGL02833
Quality Score
Status
Chromosome 4
Chromosomal Location 107110889-107137135 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 107132492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
AlphaFold Q9D6H2
Predicted Effect probably benign
Transcript: ENSMUST00000046558
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106749
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172

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 probably benign
Transcript: ENSMUST00000152717
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,371 (GRCm39) probably benign Het
Atr A T 9: 95,744,905 (GRCm39) H74L probably damaging Het
Brca2 A T 5: 150,465,255 (GRCm39) H1673L possibly damaging Het
Brwd1 A T 16: 95,853,771 (GRCm39) I495K probably damaging Het
Cacna1s A T 1: 135,998,743 (GRCm39) I213F probably benign Het
Cds1 T C 5: 101,962,332 (GRCm39) S316P possibly damaging Het
Ces1b G A 8: 93,806,038 (GRCm39) P68S probably damaging Het
Cilp A G 9: 65,185,206 (GRCm39) I434V probably benign Het
Csgalnact2 A G 6: 118,106,229 (GRCm39) Y30H probably damaging Het
Defb7 T C 8: 19,545,140 (GRCm39) V6A probably benign Het
Dlg2 A T 7: 92,080,335 (GRCm39) L841F probably damaging Het
Dnajc14 A G 10: 128,642,468 (GRCm39) N130S possibly damaging Het
Dock7 T A 4: 98,833,732 (GRCm39) D1863V probably damaging Het
Dsp A G 13: 38,376,897 (GRCm39) R1561G possibly damaging Het
Fads2b G T 2: 85,332,551 (GRCm39) R158S possibly damaging Het
Gstt4 G T 10: 75,658,174 (GRCm39) F28L probably damaging Het
Hectd1 G T 12: 51,810,864 (GRCm39) D1690E probably damaging Het
Hspg2 T C 4: 137,282,441 (GRCm39) S3394P probably benign Het
Igf2r A T 17: 12,911,610 (GRCm39) C1910S probably damaging Het
Jakmip2 T C 18: 43,708,516 (GRCm39) probably benign Het
Katnip A T 7: 125,449,584 (GRCm39) R883* probably null Het
Kif1b C T 4: 149,330,821 (GRCm39) V612M probably damaging Het
Lrrd1 A G 5: 3,900,709 (GRCm39) E338G probably damaging Het
Mmp9 C A 2: 164,791,723 (GRCm39) D205E probably damaging Het
Mylk A T 16: 34,735,270 (GRCm39) H750L probably benign Het
Naip6 A G 13: 100,436,121 (GRCm39) S801P probably damaging Het
Nlrp1b A T 11: 71,051,998 (GRCm39) M980K probably benign Het
Or14j1 G A 17: 38,146,831 (GRCm39) V314I probably benign Het
Or2y3 T C 17: 38,393,243 (GRCm39) K209E possibly damaging Het
Or5d43 C A 2: 88,104,776 (GRCm39) V206F probably benign Het
Or6c88 A G 10: 129,406,619 (GRCm39) T32A probably benign Het
Pdk1 A G 2: 71,727,989 (GRCm39) probably null Het
Pex7 A G 10: 19,770,500 (GRCm39) S125P probably damaging Het
Pigu T C 2: 155,187,565 (GRCm39) probably benign Het
Prr16 T A 18: 51,436,164 (GRCm39) H214Q probably damaging Het
Psme4 C T 11: 30,800,715 (GRCm39) probably benign Het
Sf3b3 A G 8: 111,538,609 (GRCm39) probably null Het
Sp4 T C 12: 118,225,616 (GRCm39) I583V probably benign Het
Spata22 A G 11: 73,234,569 (GRCm39) T224A probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmem119 T A 5: 113,933,432 (GRCm39) Y123F probably damaging Het
Umps A T 16: 33,782,523 (GRCm39) L133* probably null Het
Usp46 T A 5: 74,177,343 (GRCm39) T179S probably benign Het
Vtcn1 T A 3: 100,795,701 (GRCm39) Y223N probably damaging Het
Wiz A G 17: 32,576,853 (GRCm39) M567T probably damaging Het
Other mutations in Ift25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Ift25 APN 4 107,132,449 (GRCm39) missense probably benign 0.02
IGL02885:Ift25 APN 4 107,130,866 (GRCm39) missense possibly damaging 0.67
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