Incidental Mutation 'IGL02223:Ift46'
ID 285233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift46
Ensembl Gene ENSMUSG00000002031
Gene Name intraflagellar transport 46
Synonyms IFT46, 1500035H01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # IGL02223
Quality Score
Status
Chromosome 9
Chromosomal Location 44683074-44704011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44697609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 165 (S165G)
Ref Sequence ENSEMBL: ENSMUSP00000113845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002099] [ENSMUST00000118186] [ENSMUST00000125877] [ENSMUST00000128150] [ENSMUST00000151905] [ENSMUST00000147559]
AlphaFold Q9DB07
Predicted Effect probably damaging
Transcript: ENSMUST00000002099
AA Change: S165G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000002099
Gene: ENSMUSG00000002031
AA Change: S165G

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 29 52 N/A INTRINSIC
Pfam:IFT46_B_C 60 270 6.2e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118186
AA Change: S165G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113845
Gene: ENSMUSG00000002031
AA Change: S165G

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 29 52 N/A INTRINSIC
Pfam:IFT46_B_C 59 272 1.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125877
SMART Domains Protein: ENSMUSP00000122682
Gene: ENSMUSG00000002031

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 29 52 N/A INTRINSIC
Pfam:IFT46_B_C 59 113 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149020
Predicted Effect probably benign
Transcript: ENSMUST00000214854
Predicted Effect probably benign
Transcript: ENSMUST00000151905
Predicted Effect probably benign
Transcript: ENSMUST00000147559
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal at E10.5 and exhibit embryonic growth retardation, neural tube defects, cardiac edema, and randomized heart looping due to absence of cilia at the embryonic node. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Ift46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Ift46 APN 9 44,698,176 (GRCm39) missense probably damaging 0.96
IGL03355:Ift46 APN 9 44,693,445 (GRCm39) missense possibly damaging 0.67
R3149:Ift46 UTSW 9 44,695,045 (GRCm39) missense probably damaging 1.00
R4678:Ift46 UTSW 9 44,695,260 (GRCm39) nonsense probably null
R5095:Ift46 UTSW 9 44,698,146 (GRCm39) missense probably damaging 1.00
R5579:Ift46 UTSW 9 44,698,160 (GRCm39) missense possibly damaging 0.87
R7378:Ift46 UTSW 9 44,689,892 (GRCm39) start gained probably benign
R8537:Ift46 UTSW 9 44,695,280 (GRCm39) missense probably damaging 1.00
R8819:Ift46 UTSW 9 44,701,819 (GRCm39) missense probably damaging 0.96
R8820:Ift46 UTSW 9 44,701,819 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16