Incidental Mutation 'R3149:Ift46'
ID 264355
Institutional Source Beutler Lab
Gene Symbol Ift46
Ensembl Gene ENSMUSG00000002031
Gene Name intraflagellar transport 46
Synonyms IFT46, 1500035H01Rik
MMRRC Submission 040601-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.382) question?
Stock # R3149 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44683074-44704011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44695045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000122682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002099] [ENSMUST00000118186] [ENSMUST00000125877] [ENSMUST00000128150] [ENSMUST00000147559] [ENSMUST00000151905]
AlphaFold Q9DB07
Predicted Effect probably damaging
Transcript: ENSMUST00000002099
AA Change: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002099
Gene: ENSMUSG00000002031
AA Change: D65G

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: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113845
Gene: ENSMUSG00000002031
AA Change: D65G

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 damaging
Transcript: ENSMUST00000125877
AA Change: D65G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122682
Gene: ENSMUSG00000002031
AA Change: D65G

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: ENSMUST00000143654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154090
Predicted Effect probably benign
Transcript: ENSMUST00000147559
Predicted Effect probably benign
Transcript: ENSMUST00000151905
Predicted Effect probably benign
Transcript: ENSMUST00000214854
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G A 17: 57,183,348 (GRCm39) A30T probably benign Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Cel T C 2: 28,446,143 (GRCm39) D576G probably benign Het
Csf2ra C A 19: 61,215,758 (GRCm39) A16S possibly damaging Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dus1l T C 11: 120,683,930 (GRCm39) T173A possibly damaging Het
Dzip1 T C 14: 119,148,780 (GRCm39) T300A probably benign Het
Ggta1 A T 2: 35,292,635 (GRCm39) I224N probably damaging Het
Gm5150 A G 3: 16,060,479 (GRCm39) L3P probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7137 T C 10: 77,623,839 (GRCm39) probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hoxa13 G T 6: 52,237,284 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mapk11 T C 15: 89,029,653 (GRCm39) probably null Het
Mettl25 T C 10: 105,662,214 (GRCm39) D252G probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Pecam1 A G 11: 106,575,107 (GRCm39) V601A possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rassf9 A T 10: 102,380,687 (GRCm39) D21V possibly damaging Het
Rmnd5a T A 6: 71,406,085 (GRCm39) I68L probably benign Het
Rock2 T C 12: 17,015,092 (GRCm39) S762P probably damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Srgap2 T C 1: 131,220,327 (GRCm39) T216A probably benign Het
Tasor2 G A 13: 3,624,359 (GRCm39) P1182S probably damaging Het
Vmn1r86 T A 7: 12,836,358 (GRCm39) K123* probably null Het
Vmn2r68 A C 7: 84,886,875 (GRCm39) V13G probably benign Het
Vps13d G C 4: 144,853,147 (GRCm39) N2322K possibly damaging Het
Xpo5 A G 17: 46,553,173 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Ift46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Ift46 APN 9 44,697,609 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTCAAAGCTGCCTTGTAGG -3'
(R):5'- ATCGATCAACTGAGGTGTGTAC -3'

Sequencing Primer
(F):5'- CCTTGTAGGCTACCAGGAAG -3'
(R):5'- CAGTCAGAAAATGTCATTTGACTGGG -3'
Posted On 2015-02-05