Incidental Mutation 'IGL03269:Ift70a2'
ID 415208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift70a2
Ensembl Gene ENSMUSG00000075272
Gene Name intraflagellar transport 70A2
Synonyms Ttc30a2, OTTMUSG00000015167
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03269
Quality Score
Status
Chromosome 2
Chromosomal Location 75806516-75808523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75808479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 11 (D11G)
Ref Sequence ENSEMBL: ENSMUSP00000097575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
AlphaFold A2AKQ8
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 possibly damaging
Transcript: ENSMUST00000099995
AA Change: D11G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: D11G

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 26,998,367 (GRCm39) C930* probably null Het
Ankar A T 1: 72,704,360 (GRCm39) V854E probably damaging Het
Ceacam3 T A 7: 16,895,767 (GRCm39) L579Q probably damaging Het
Clip2 G T 5: 134,545,748 (GRCm39) H314Q probably damaging Het
Fbxo28 A G 1: 182,144,583 (GRCm39) V327A possibly damaging Het
Gdap1 T A 1: 17,231,729 (GRCm39) F358Y probably benign Het
Ighv1-18 T C 12: 114,646,466 (GRCm39) Y46C probably damaging Het
Il1rl2 T A 1: 40,404,472 (GRCm39) F531Y probably damaging Het
Irf6 A G 1: 192,844,906 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,248,409 (GRCm39) T1632A probably damaging Het
Odad3 A G 9: 21,909,339 (GRCm39) probably null Het
Or4l1 T A 14: 50,166,165 (GRCm39) T279S probably damaging Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or8b43 A G 9: 38,360,197 (GRCm39) T10A probably benign Het
Osgepl1 C A 1: 53,360,271 (GRCm39) Y332* probably null Het
Pibf1 G A 14: 99,425,171 (GRCm39) A553T probably damaging Het
Prpf38b A G 3: 108,812,557 (GRCm39) F219L probably benign Het
Pwp1 C A 10: 85,718,768 (GRCm39) Q312K probably damaging Het
Rnf17 T C 14: 56,665,403 (GRCm39) V185A possibly damaging Het
Serpina3k T C 12: 104,306,780 (GRCm39) I4T possibly damaging Het
Slc33a1 A G 3: 63,871,178 (GRCm39) V145A probably damaging Het
Slco3a1 T C 7: 73,968,280 (GRCm39) D480G possibly damaging Het
Tdpoz4 G A 3: 93,704,144 (GRCm39) C147Y probably damaging Het
Tlr4 C A 4: 66,759,033 (GRCm39) P609T probably damaging Het
Trgv4 T A 13: 19,369,622 (GRCm39) I122K probably damaging Het
Unc79 A G 12: 103,054,936 (GRCm39) K927E probably damaging Het
Vmn1r71 G A 7: 10,482,571 (GRCm39) T39I possibly damaging Het
Vmn2r9 A G 5: 108,995,820 (GRCm39) L276P probably damaging Het
Zfp335 C A 2: 164,742,274 (GRCm39) R570L probably damaging Het
Other mutations in Ift70a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Ift70a2 APN 2 75,806,682 (GRCm39) missense probably benign 0.16
R0011:Ift70a2 UTSW 2 75,806,561 (GRCm39) missense probably damaging 1.00
R0751:Ift70a2 UTSW 2 75,808,375 (GRCm39) missense probably damaging 0.99
R0766:Ift70a2 UTSW 2 75,806,676 (GRCm39) missense probably benign 0.00
R0835:Ift70a2 UTSW 2 75,808,494 (GRCm39) missense probably benign
R1133:Ift70a2 UTSW 2 75,807,727 (GRCm39) nonsense probably null
R1212:Ift70a2 UTSW 2 75,806,823 (GRCm39) missense probably damaging 1.00
R1312:Ift70a2 UTSW 2 75,806,676 (GRCm39) missense probably benign 0.00
R4780:Ift70a2 UTSW 2 75,807,920 (GRCm39) missense probably benign 0.19
R4799:Ift70a2 UTSW 2 75,807,729 (GRCm39) missense probably benign 0.01
R4847:Ift70a2 UTSW 2 75,808,058 (GRCm39) missense probably benign 0.03
R5176:Ift70a2 UTSW 2 75,807,421 (GRCm39) missense probably benign
R5390:Ift70a2 UTSW 2 75,807,630 (GRCm39) missense probably damaging 1.00
R5724:Ift70a2 UTSW 2 75,808,074 (GRCm39) missense probably benign
R6975:Ift70a2 UTSW 2 75,808,004 (GRCm39) nonsense probably null
R6975:Ift70a2 UTSW 2 75,806,752 (GRCm39) missense probably damaging 1.00
R7028:Ift70a2 UTSW 2 75,806,613 (GRCm39) nonsense probably null
R7234:Ift70a2 UTSW 2 75,806,540 (GRCm39) nonsense probably null
R7246:Ift70a2 UTSW 2 75,808,023 (GRCm39) missense probably damaging 1.00
R7792:Ift70a2 UTSW 2 75,807,273 (GRCm39) missense probably benign 0.04
R8073:Ift70a2 UTSW 2 75,806,997 (GRCm39) missense probably damaging 1.00
R9038:Ift70a2 UTSW 2 75,808,215 (GRCm39) missense probably benign 0.09
R9278:Ift70a2 UTSW 2 75,807,375 (GRCm39) missense probably damaging 1.00
R9454:Ift70a2 UTSW 2 75,806,812 (GRCm39) missense probably benign 0.05
R9694:Ift70a2 UTSW 2 75,807,691 (GRCm39) missense probably benign 0.41
Posted On 2016-08-02