Incidental Mutation 'IGL00493:Ift70a1'
ID 26793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift70a1
Ensembl Gene ENSMUSG00000075271
Gene Name intraflagellar transport 70A1
Synonyms Ttc30a1, 4930506L13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # IGL00493
Quality Score
Status
Chromosome 2
Chromosomal Location 75809450-75812311 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 75812085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
AlphaFold Q99J38
Predicted Effect probably benign
Transcript: ENSMUST00000099994
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.19e1 SMART
TPR 187 220 6.24e1 SMART
coiled coil region 380 411 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099995
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.77e1 SMART
Blast:TPR 187 224 1e-13 BLAST
coiled coil region 380 405 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Clhc1 T A 11: 29,521,745 (GRCm39) I426N probably damaging Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Meikin C T 11: 54,289,320 (GRCm39) P231L probably damaging Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Pde6c T C 19: 38,151,324 (GRCm39) probably benign Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Sel1l A G 12: 91,781,387 (GRCm39) probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Ugt2b1 A G 5: 87,073,817 (GRCm39) C181R probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Ift70a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Ift70a1 APN 2 75,810,259 (GRCm39) missense probably benign 0.01
IGL01527:Ift70a1 APN 2 75,810,860 (GRCm39) missense probably benign
IGL01690:Ift70a1 APN 2 75,810,277 (GRCm39) missense probably benign
IGL01916:Ift70a1 APN 2 75,811,223 (GRCm39) missense probably damaging 0.98
IGL02342:Ift70a1 APN 2 75,810,976 (GRCm39) missense probably benign 0.45
IGL02728:Ift70a1 APN 2 75,811,193 (GRCm39) missense probably benign 0.01
IGL03171:Ift70a1 APN 2 75,810,851 (GRCm39) missense probably benign 0.00
PIT4677001:Ift70a1 UTSW 2 75,810,113 (GRCm39) missense possibly damaging 0.60
R0781:Ift70a1 UTSW 2 75,810,320 (GRCm39) missense probably damaging 0.98
R1110:Ift70a1 UTSW 2 75,810,320 (GRCm39) missense probably damaging 0.98
R1185:Ift70a1 UTSW 2 75,810,696 (GRCm39) missense probably damaging 1.00
R1185:Ift70a1 UTSW 2 75,810,696 (GRCm39) missense probably damaging 1.00
R1750:Ift70a1 UTSW 2 75,810,599 (GRCm39) missense probably benign 0.21
R2016:Ift70a1 UTSW 2 75,811,801 (GRCm39) missense probably benign 0.42
R2017:Ift70a1 UTSW 2 75,811,801 (GRCm39) missense probably benign 0.42
R2020:Ift70a1 UTSW 2 75,811,279 (GRCm39) missense probably benign
R3606:Ift70a1 UTSW 2 75,811,621 (GRCm39) missense probably benign 0.06
R4272:Ift70a1 UTSW 2 75,810,818 (GRCm39) missense probably damaging 1.00
R4600:Ift70a1 UTSW 2 75,810,977 (GRCm39) missense probably benign 0.26
R4894:Ift70a1 UTSW 2 75,810,088 (GRCm39) makesense probably null
R4996:Ift70a1 UTSW 2 75,810,266 (GRCm39) missense probably benign
R5217:Ift70a1 UTSW 2 75,811,147 (GRCm39) missense probably damaging 1.00
R5721:Ift70a1 UTSW 2 75,811,715 (GRCm39) missense probably damaging 0.99
R6002:Ift70a1 UTSW 2 75,811,121 (GRCm39) missense possibly damaging 0.59
R6006:Ift70a1 UTSW 2 75,811,832 (GRCm39) missense probably benign 0.08
R7316:Ift70a1 UTSW 2 75,811,201 (GRCm39) missense probably damaging 1.00
R7391:Ift70a1 UTSW 2 75,810,359 (GRCm39) missense probably benign 0.05
R7494:Ift70a1 UTSW 2 75,810,242 (GRCm39) missense probably damaging 1.00
R7960:Ift70a1 UTSW 2 75,811,188 (GRCm39) missense probably benign 0.00
R7972:Ift70a1 UTSW 2 75,810,802 (GRCm39) missense probably damaging 1.00
R7974:Ift70a1 UTSW 2 75,810,688 (GRCm39) missense probably damaging 1.00
R8443:Ift70a1 UTSW 2 75,811,519 (GRCm39) missense probably benign 0.00
R8792:Ift70a1 UTSW 2 75,811,898 (GRCm39) nonsense probably null
R8992:Ift70a1 UTSW 2 75,810,251 (GRCm39) missense probably benign 0.07
R9145:Ift70a1 UTSW 2 75,810,423 (GRCm39) nonsense probably null
R9268:Ift70a1 UTSW 2 75,811,279 (GRCm39) missense probably benign
Posted On 2013-04-17