Incidental Mutation 'IGL02478:Ift25'
ID 295055
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 # IGL02478
Quality Score
Status
Chromosome 4
Chromosomal Location 107110889-107137135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107132449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 79 (S79T)
Ref Sequence ENSEMBL: ENSMUSP00000118617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
AlphaFold Q9D6H2
Predicted Effect probably benign
Transcript: ENSMUST00000046558
AA Change: S79T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172
AA Change: S79T

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106749
AA Change: S79T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172
AA Change: S79T

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
AA Change: S79T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172
AA Change: S79T

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly damaging Het
Other mutations in Ift25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02833:Ift25 APN 4 107,132,492 (GRCm39) splice site probably benign
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 2015-04-16