Incidental Mutation 'R9420:Ift70b'
ID 712251
Institutional Source Beutler Lab
Gene Symbol Ift70b
Ensembl Gene ENSMUSG00000075273
Gene Name intraflagellar transport 70B
Synonyms 2510042P03Rik, Ttc30b
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 75766193-75768806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75768391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000097576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099996]
AlphaFold Q9CY00
Predicted Effect possibly damaging
Transcript: ENSMUST00000099996
AA Change: I121F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097576
Gene: ENSMUSG00000075273
AA Change: I121F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,912,277 (GRCm39) I56T probably benign Het
Adissp T C 2: 130,993,682 (GRCm39) probably null Het
Akr1c12 A G 13: 4,325,796 (GRCm39) L99S probably damaging Het
Azin1 C A 15: 38,493,871 (GRCm39) V251F possibly damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
C2cd3 A T 7: 100,065,262 (GRCm39) M305L Het
Casz1 A G 4: 149,023,320 (GRCm39) T742A probably damaging Het
Cbfa2t2 A G 2: 154,352,426 (GRCm39) probably null Het
Clec2e T A 6: 129,071,420 (GRCm39) Y139F possibly damaging Het
Crisp2 T A 17: 41,094,724 (GRCm39) N117I possibly damaging Het
Ddx52 A T 11: 83,833,008 (GRCm39) D2V probably damaging Het
Dmpk T A 7: 18,824,946 (GRCm39) V442E probably benign Het
Dnah2 A T 11: 69,368,942 (GRCm39) M1654K probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Erlec1 A G 11: 30,885,054 (GRCm39) V411A probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Fry A G 5: 150,356,994 (GRCm39) E1847G possibly damaging Het
Gck A G 11: 5,899,553 (GRCm39) probably null Het
Gga2 T C 7: 121,603,195 (GRCm39) D167G probably damaging Het
Gprc6a A G 10: 51,491,506 (GRCm39) S748P probably damaging Het
H2-M10.2 T C 17: 36,595,643 (GRCm39) R216G probably benign Het
H2-M2 T A 17: 37,792,215 (GRCm39) I312F probably benign Het
Havcr2 A T 11: 46,347,350 (GRCm39) Y109F probably damaging Het
Hoga1 T C 19: 42,048,333 (GRCm39) V67A Het
Kcnk12 C A 17: 88,104,507 (GRCm39) V126L possibly damaging Het
Klc1 A G 12: 111,738,950 (GRCm39) E66G probably damaging Het
Klhl2 A T 8: 65,205,870 (GRCm39) Y350* probably null Het
Letm1 T C 5: 33,926,802 (GRCm39) H165R probably damaging Het
Luc7l2 T C 6: 38,547,489 (GRCm39) C36R probably damaging Het
Mab21l1 A G 3: 55,690,674 (GRCm39) N87S probably damaging Het
Mdn1 A G 4: 32,678,414 (GRCm39) T681A probably damaging Het
Mrc1 C T 2: 14,312,790 (GRCm39) T904I possibly damaging Het
Mrpl38 A G 11: 116,023,276 (GRCm39) S326P probably damaging Het
Mtr T G 13: 12,268,764 (GRCm39) K32N probably benign Het
Mybpc3 T A 2: 90,965,478 (GRCm39) C1128* probably null Het
Ncdn T C 4: 126,645,762 (GRCm39) D49G probably damaging Het
Nfkbiz G A 16: 55,642,337 (GRCm39) T27I probably damaging Het
Npnt A T 3: 132,653,866 (GRCm39) Y38* probably null Het
Nrxn2 A G 19: 6,581,931 (GRCm39) E1622G probably benign Het
Nutm2 T C 13: 50,626,964 (GRCm39) I373T probably damaging Het
Or4c58 T C 2: 89,674,715 (GRCm39) I201V probably benign Het
Or51m1 T C 7: 103,578,980 (GRCm39) S317P possibly damaging Het
Osbp2 A G 11: 3,662,170 (GRCm39) S228P probably damaging Het
Pbx3 C T 2: 34,103,348 (GRCm39) R208Q probably damaging Het
Pcdhgb5 T C 18: 37,864,838 (GRCm39) V211A probably benign Het
Pi16 C T 17: 29,544,899 (GRCm39) T151M probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptpro T C 6: 137,420,933 (GRCm39) I1068T probably benign Het
Rbl1 A T 2: 157,035,154 (GRCm39) Y309N probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Serpina3g G C 12: 104,206,518 (GRCm39) E106D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Son G C 16: 91,454,508 (GRCm39) R1085P probably damaging Het
Tasor A T 14: 27,163,927 (GRCm39) I238F probably damaging Het
Tbx18 C A 9: 87,612,675 (GRCm39) A75S probably benign Het
Tmem232 C A 17: 65,792,881 (GRCm39) Q105H probably damaging Het
Ttc29 A G 8: 79,060,390 (GRCm39) I437V probably benign Het
Ttn T A 2: 76,621,887 (GRCm39) I15552L probably damaging Het
Ttn T A 2: 76,750,313 (GRCm39) T3579S probably benign Het
Vps11 A G 9: 44,267,719 (GRCm39) F298L probably benign Het
Wbp11 T C 6: 136,791,259 (GRCm39) T625A unknown Het
Xylb T A 9: 119,215,428 (GRCm39) N460K probably damaging Het
Znrf4 C A 17: 56,819,218 (GRCm39) V30F probably damaging Het
Other mutations in Ift70b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Ift70b APN 2 75,767,226 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTGCTGTAATAGGCCAAAGC -3'
(R):5'- TCGCTGCAGAGTGCTATGAG -3'

Sequencing Primer
(F):5'- TGGTAGCCAGAAGCCTGCAG -3'
(R):5'- CTATGAGCAGCTGAGCCAG -3'
Posted On 2022-05-16