Incidental Mutation 'IGL01525:Ift70b'
ID 89524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift70b
Ensembl Gene ENSMUSG00000075273
Gene Name intraflagellar transport 70B
Synonyms 2510042P03Rik, Ttc30b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01525
Quality Score
Status
Chromosome 2
Chromosomal Location 75766193-75768806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75767226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 509 (M509K)
Ref Sequence ENSEMBL: ENSMUSP00000097576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099996]
AlphaFold Q9CY00
Predicted Effect probably damaging
Transcript: ENSMUST00000099996
AA Change: M509K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097576
Gene: ENSMUSG00000075273
AA Change: M509K

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 3.89e1 SMART
TPR 187 220 6.24e1 SMART
TPR 423 456 7.49e1 SMART
Blast:TPR 457 491 3e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,458,684 (GRCm39) E322G probably damaging Het
Aldh8a1 A T 10: 21,267,472 (GRCm39) I286F probably damaging Het
Arnt2 T A 7: 83,924,616 (GRCm39) T404S possibly damaging Het
Asb1 A G 1: 91,479,846 (GRCm39) T190A probably damaging Het
Atp8b1 G A 18: 64,672,323 (GRCm39) R1014* probably null Het
Dgcr8 T C 16: 18,101,808 (GRCm39) D158G probably damaging Het
Dock5 A G 14: 68,043,169 (GRCm39) probably benign Het
Fras1 C T 5: 96,887,195 (GRCm39) T2659I probably damaging Het
Galt A G 4: 41,756,068 (GRCm39) T45A probably benign Het
Gtpbp3 A G 8: 71,943,078 (GRCm39) D164G probably damaging Het
Kmt2c T A 5: 25,534,439 (GRCm39) probably benign Het
Lrrc59 A T 11: 94,525,522 (GRCm39) Q106L probably damaging Het
Mgat4c A G 10: 102,214,057 (GRCm39) I13M probably damaging Het
Muc19 T A 15: 91,770,877 (GRCm39) noncoding transcript Het
Myo5b C T 18: 74,873,620 (GRCm39) A1508V probably damaging Het
Or2o1 A G 11: 49,051,501 (GRCm39) Y220C probably damaging Het
Or52ad1 T A 7: 102,995,386 (GRCm39) I250F probably benign Het
Or5d39 T C 2: 87,980,221 (GRCm39) I47M probably benign Het
Plxna2 A G 1: 194,394,619 (GRCm39) E500G probably benign Het
Psme4 T A 11: 30,759,936 (GRCm39) probably benign Het
S100a8 A T 3: 90,576,876 (GRCm39) S10C probably damaging Het
Sdk1 T C 5: 141,985,675 (GRCm39) V769A probably damaging Het
Sorbs1 G T 19: 40,338,422 (GRCm39) T326K probably damaging Het
Spata31d1b T C 13: 59,860,280 (GRCm39) I51T probably benign Het
Thumpd3 T C 6: 113,024,597 (GRCm39) S64P probably damaging Het
Ticrr T C 7: 79,332,197 (GRCm39) L843P probably damaging Het
Ttn A T 2: 76,641,108 (GRCm39) I13587N probably damaging Het
Txndc2 A G 17: 65,945,908 (GRCm39) S90P possibly damaging Het
Other mutations in Ift70b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Ift70b APN 2 75,768,247 (GRCm39) missense probably benign 0.03
IGL02891:Ift70b APN 2 75,767,404 (GRCm39) missense possibly damaging 0.88
R0383:Ift70b UTSW 2 75,768,586 (GRCm39) missense probably damaging 1.00
R0542:Ift70b UTSW 2 75,767,055 (GRCm39) missense probably damaging 0.98
R1470:Ift70b UTSW 2 75,768,155 (GRCm39) missense probably benign
R1470:Ift70b UTSW 2 75,768,155 (GRCm39) missense probably benign
R1656:Ift70b UTSW 2 75,767,760 (GRCm39) missense probably benign 0.26
R1951:Ift70b UTSW 2 75,767,586 (GRCm39) missense probably damaging 1.00
R1959:Ift70b UTSW 2 75,767,443 (GRCm39) missense probably benign 0.06
R1994:Ift70b UTSW 2 75,768,402 (GRCm39) missense probably damaging 1.00
R2132:Ift70b UTSW 2 75,767,129 (GRCm39) missense probably damaging 1.00
R4968:Ift70b UTSW 2 75,768,391 (GRCm39) missense probably benign 0.00
R6110:Ift70b UTSW 2 75,768,144 (GRCm39) missense probably damaging 1.00
R6502:Ift70b UTSW 2 75,767,448 (GRCm39) missense possibly damaging 0.87
R7154:Ift70b UTSW 2 75,768,405 (GRCm39) missense possibly damaging 0.88
R7182:Ift70b UTSW 2 75,768,293 (GRCm39) nonsense probably null
R7269:Ift70b UTSW 2 75,767,838 (GRCm39) missense probably damaging 1.00
R7866:Ift70b UTSW 2 75,766,963 (GRCm39) missense possibly damaging 0.94
R8089:Ift70b UTSW 2 75,767,647 (GRCm39) missense possibly damaging 0.57
R9035:Ift70b UTSW 2 75,767,596 (GRCm39) missense probably benign 0.06
R9420:Ift70b UTSW 2 75,768,391 (GRCm39) missense possibly damaging 0.64
R9621:Ift70b UTSW 2 75,768,144 (GRCm39) missense probably damaging 1.00
R9745:Ift70b UTSW 2 75,768,261 (GRCm39) missense probably benign 0.25
R9765:Ift70b UTSW 2 75,768,467 (GRCm39) nonsense probably null
Z1088:Ift70b UTSW 2 75,768,326 (GRCm39) missense probably benign
Posted On 2013-12-03