Incidental Mutation 'R5286:Ift25'
ID 424344
Institutional Source Beutler Lab
Gene Symbol Ift25
Ensembl Gene ENSMUSG00000063172
Gene Name intraflagellar transport 25
Synonyms 2900042B11Rik, Hspb11
MMRRC Submission 042870-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5286 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107110889-107137135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107136998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 132 (I132N)
Ref Sequence ENSEMBL: ENSMUSP00000118617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046558] [ENSMUST00000106749] [ENSMUST00000152717]
AlphaFold Q9D6H2
Predicted Effect probably damaging
Transcript: ENSMUST00000046558
AA Change: I132N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048810
Gene: ENSMUSG00000063172
AA Change: I132N

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106749
AA Change: I132N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102360
Gene: ENSMUSG00000063172
AA Change: I132N

DomainStartEndE-ValueType
PDB:1XPW|A 1 142 2e-88 PDB
SCOP:d1jhja_ 15 120 5e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137911
Predicted Effect probably damaging
Transcript: ENSMUST00000152717
AA Change: I132N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118617
Gene: ENSMUSG00000063172
AA Change: I132N

DomainStartEndE-ValueType
Pfam:F5_F8_type_C 16 130 3.8e-8 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (64/64)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,358 (GRCm39) I417V probably benign Het
Adad1 T C 3: 37,119,399 (GRCm39) V160A possibly damaging Het
Adcy7 A G 8: 89,051,487 (GRCm39) E869G probably damaging Het
Birc6 G A 17: 74,977,242 (GRCm39) A4352T probably damaging Het
Brd2 T A 17: 34,334,205 (GRCm39) T286S probably damaging Het
Bsn G T 9: 107,988,123 (GRCm39) probably benign Het
Cables1 A G 18: 12,057,884 (GRCm39) T335A probably benign Het
Cacna1d A T 14: 30,072,682 (GRCm39) S98T possibly damaging Het
Ccdc181 A G 1: 164,105,810 (GRCm39) Y15C probably damaging Het
Dlgap4 T G 2: 156,587,839 (GRCm39) V39G probably damaging Het
Epb41l3 G A 17: 69,569,268 (GRCm39) R504H probably benign Het
Fbxo7 T C 10: 85,857,954 (GRCm39) L23P probably damaging Het
Gm42791 A C 5: 148,887,178 (GRCm39) probably benign Het
Gprc5b A T 7: 118,582,910 (GRCm39) F320I possibly damaging Het
Gtf3c1 G A 7: 125,262,580 (GRCm39) T1093M possibly damaging Het
Hddc3 G T 7: 79,993,543 (GRCm39) R83L probably damaging Het
Iars2 T C 1: 185,055,318 (GRCm39) probably benign Het
Igfn1 T C 1: 135,895,599 (GRCm39) K1656E probably benign Het
Itk A C 11: 46,228,926 (GRCm39) probably null Het
Klra6 G A 6: 129,995,932 (GRCm39) T142I probably benign Het
Knop1 C T 7: 118,454,993 (GRCm39) A3T probably damaging Het
Lamc3 A G 2: 31,808,608 (GRCm39) H788R probably damaging Het
Lrif1 A G 3: 106,639,859 (GRCm39) R315G probably damaging Het
Mfap3l A G 8: 61,109,903 (GRCm39) D93G probably benign Het
Ngef T C 1: 87,473,552 (GRCm39) S77G probably benign Het
Nt5dc3 T C 10: 86,640,656 (GRCm39) S13P probably benign Het
Or9s13 T C 1: 92,548,084 (GRCm39) V152A probably benign Het
Pclo T C 5: 14,729,761 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,378,368 (GRCm39) Q1041* probably null Het
Ppl G A 16: 4,906,987 (GRCm39) R1103* probably null Het
Ppp4r3b T A 11: 29,161,667 (GRCm39) D680E probably benign Het
Rasgrf2 T G 13: 92,267,941 (GRCm39) K21T possibly damaging Het
Rev1 T A 1: 38,094,407 (GRCm39) K1004* probably null Het
Rgs9 T G 11: 109,130,277 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,693 (GRCm39) L86P probably damaging Het
Rps13 A G 7: 115,933,155 (GRCm39) Y18H probably damaging Het
Rxfp2 T C 5: 149,958,909 (GRCm39) F33S probably damaging Het
Sfmbt1 G A 14: 30,538,777 (GRCm39) V799M probably damaging Het
Stard9 T A 2: 120,532,428 (GRCm39) V2895D probably benign Het
Syn3 T C 10: 86,187,428 (GRCm39) N232S possibly damaging Het
Taok3 T A 5: 117,404,140 (GRCm39) Y772N probably damaging Het
Tspan4 A G 7: 141,062,483 (GRCm39) probably null Het
Ttn C A 2: 76,684,530 (GRCm39) probably benign Het
Vwa3b T A 1: 37,084,120 (GRCm39) W98R probably damaging Het
Vwa5b2 A T 16: 20,415,058 (GRCm39) D360V probably damaging Het
Wdr73 A T 7: 80,541,557 (GRCm39) D328E probably benign Het
Xpo5 A G 17: 46,545,406 (GRCm39) N824S probably benign Het
Zbtb2 C T 10: 4,318,566 (GRCm39) G487S possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGCCTCTGAACACTCTTGC -3'
(R):5'- CACGCTATAATGCCACTATATCAG -3'

Sequencing Primer
(F):5'- AACACTCTTGCCTTATATCTTGTAAC -3'
(R):5'- TATACGTTGAGTAGGTAAAGGAG -3'
Posted On 2016-08-04