Incidental Mutation 'R1994:Ift70b'
ID 224073
Institutional Source Beutler Lab
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 # R1994 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 75766193-75768806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75768402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 117 (L117P)
Ref Sequence ENSEMBL: ENSMUSP00000097576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099996]
AlphaFold Q9CY00
Predicted Effect probably damaging
Transcript: ENSMUST00000099996
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097576
Gene: ENSMUSG00000075273
AA Change: L117P

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,113,014 (GRCm39) probably null Het
Abcc8 T G 7: 45,806,543 (GRCm39) R388S probably benign Het
Abhd18 C T 3: 40,889,361 (GRCm39) R414* probably null Het
Acap1 C T 11: 69,780,324 (GRCm39) V40I probably benign Het
Actn1 C A 12: 80,251,745 (GRCm39) G111* probably null Het
Adam26b T C 8: 43,973,676 (GRCm39) Q442R probably benign Het
Adamts19 T C 18: 59,105,903 (GRCm39) probably null Het
Agtpbp1 T G 13: 59,678,872 (GRCm39) K145N probably damaging Het
AI661453 A G 17: 47,777,959 (GRCm39) probably benign Het
Ap4e1 T C 2: 126,903,467 (GRCm39) S790P probably benign Het
Asmt A G X: 169,109,524 (GRCm39) E168G possibly damaging Het
Atp2a3 T A 11: 72,866,240 (GRCm39) S287T probably damaging Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bicd1 A T 6: 149,415,050 (GRCm39) T588S probably benign Het
Birc6 T G 17: 74,905,057 (GRCm39) N1283K probably benign Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Capn3 T A 2: 120,326,418 (GRCm39) Y537N probably damaging Het
Ccn3 T A 15: 54,612,750 (GRCm39) V253E probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Chgb T C 2: 132,628,418 (GRCm39) S48P possibly damaging Het
Cidec T A 6: 113,405,193 (GRCm39) Y159F probably damaging Het
Clec18a T C 8: 111,808,234 (GRCm39) S66G possibly damaging Het
Cpsf1 G A 15: 76,487,360 (GRCm39) T138M probably benign Het
Dclre1c C T 2: 3,439,022 (GRCm39) R61W probably damaging Het
Eef1akmt1 A C 14: 57,787,911 (GRCm39) V149G probably benign Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fbln2 A G 6: 91,211,283 (GRCm39) E409G probably damaging Het
Fkbp15 G A 4: 62,222,618 (GRCm39) P1094S probably benign Het
Fpr1 A G 17: 18,097,879 (GRCm39) S37P probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Gja6 A T X: 159,686,374 (GRCm39) I186N possibly damaging Het
Gm4922 T C 10: 18,659,388 (GRCm39) T445A probably benign Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Gspt2 A G X: 93,681,025 (GRCm39) D388G possibly damaging Het
Hdc T A 2: 126,458,107 (GRCm39) I72F probably damaging Het
Igf2r T C 17: 12,911,625 (GRCm39) K1905E probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Klk1b9 C T 7: 43,628,979 (GRCm39) T161I probably benign Het
Mfsd12 C A 10: 81,193,515 (GRCm39) H28Q probably damaging Het
Mgat5 A T 1: 127,387,696 (GRCm39) I551F possibly damaging Het
Miga2 A T 2: 30,272,000 (GRCm39) D25V probably damaging Het
Mlc1 T C 15: 88,858,782 (GRCm39) N122S possibly damaging Het
Mmp20 T A 9: 7,645,293 (GRCm39) M281K probably benign Het
Muc5ac C A 7: 141,366,889 (GRCm39) P2232T possibly damaging Het
N4bp2l2 A G 5: 150,584,748 (GRCm39) S411P possibly damaging Het
Ngef G A 1: 87,415,626 (GRCm39) S346L probably damaging Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or2t6 A G 14: 14,175,854 (GRCm38) I76T probably benign Het
Or4c112 T A 2: 88,853,487 (GRCm39) T287S probably damaging Het
Or4f15 T A 2: 111,814,429 (GRCm39) M5L probably benign Het
Or51aa2 T C 7: 103,187,566 (GRCm39) I292V possibly damaging Het
Or52m2 C T 7: 102,263,747 (GRCm39) V150M probably damaging Het
Or56b2 T C 7: 104,337,690 (GRCm39) I156T probably benign Het
Or6c215 T C 10: 129,637,530 (GRCm39) Y288C probably damaging Het
Or6c6 T A 10: 129,186,561 (GRCm39) I43N probably damaging Het
Pecam1 G T 11: 106,586,763 (GRCm39) H150N possibly damaging Het
Polr3c A T 3: 96,621,689 (GRCm39) probably null Het
Pop1 A C 15: 34,530,617 (GRCm39) Q1005P probably damaging Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prss33 G A 17: 24,053,172 (GRCm39) A223V probably damaging Het
Prss53 C T 7: 127,486,565 (GRCm39) V354I probably benign Het
Rab3gap2 C T 1: 184,968,221 (GRCm39) T191I probably damaging Het
Rictor T C 15: 6,805,637 (GRCm39) F608L probably benign Het
Ryr3 T A 2: 112,484,837 (GRCm39) E3884V probably null Het
Scaf11 G A 15: 96,316,721 (GRCm39) R948* probably null Het
Sec61g A T 11: 16,456,444 (GRCm39) V40E probably damaging Het
Serpinb3d A T 1: 107,008,518 (GRCm39) F116I possibly damaging Het
Sipa1l3 T C 7: 29,099,036 (GRCm39) D411G probably benign Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc35a2 T A X: 7,759,064 (GRCm39) L110Q probably damaging Het
Spata31d1b G C 13: 59,864,194 (GRCm39) L447F probably benign Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Tent4b C T 8: 88,973,112 (GRCm39) T277M probably damaging Het
Tmcc3 T C 10: 94,414,468 (GRCm39) S57P possibly damaging Het
Traf7 A G 17: 24,729,476 (GRCm39) V445A probably damaging Het
Trib1 A G 15: 59,521,192 (GRCm39) S61G possibly damaging Het
Trip12 A T 1: 84,726,893 (GRCm39) F36I probably damaging Het
Tshz3 T C 7: 36,469,247 (GRCm39) I412T probably damaging Het
Tsku T C 7: 98,001,353 (GRCm39) Y326C probably damaging Het
Ttn T G 2: 76,712,038 (GRCm39) probably benign Het
Ugt1a6a G A 1: 88,066,470 (GRCm39) R92H probably benign Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r84 T A 10: 130,221,878 (GRCm39) S781C probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zdhhc25 A G 15: 88,485,027 (GRCm39) T121A probably benign Het
Zfp109 T C 7: 23,928,743 (GRCm39) H222R probably benign Het
Zfp286 A G 11: 62,670,646 (GRCm39) S476P probably damaging Het
Zfp605 T C 5: 110,275,418 (GRCm39) Y179H probably damaging Het
Zfp955a T C 17: 33,460,620 (GRCm39) H504R probably damaging Het
Zswim2 T A 2: 83,746,007 (GRCm39) N477I possibly 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
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
Predicted Primers PCR Primer
(F):5'- AACAGGCAGCTTCATAGTGTC -3'
(R):5'- CAGTGGTGTACAGGCTCATC -3'

Sequencing Primer
(F):5'- ATAGTGTCCCTCTTTGTAGAGCAGAC -3'
(R):5'- TACTACCGCCTGCAGGAGTTC -3'
Posted On 2014-08-25