Incidental Mutation 'R2317:Cfap126'
ID 245518
Institutional Source Beutler Lab
Gene Symbol Cfap126
Ensembl Gene ENSMUSG00000026649
Gene Name cilia and flagella associated protein 126
Synonyms Flattop, 1700009P17Rik, Fltp
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2317 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 170941487-170954536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170953700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 134 (D134G)
Ref Sequence ENSEMBL: ENSMUSP00000114967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027959] [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000124157] [ENSMUST00000127394] [ENSMUST00000129651] [ENSMUST00000143623] [ENSMUST00000151340]
AlphaFold Q6P8X9
Predicted Effect probably benign
Transcript: ENSMUST00000027959
AA Change: D90G

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081560
SMART Domains Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 12 132 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111336
SMART Domains Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 46 166 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124157
AA Change: D118G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649
AA Change: D118G

DomainStartEndE-ValueType
low complexity region 150 164 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127394
Predicted Effect possibly damaging
Transcript: ENSMUST00000129651
AA Change: D134G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649
AA Change: D134G

DomainStartEndE-ValueType
low complexity region 166 180 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143623
Predicted Effect probably benign
Transcript: ENSMUST00000151340
AA Change: D90G

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148200
Predicted Effect probably benign
Transcript: ENSMUST00000156789
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Cfap126
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Cfap126 APN 1 170,954,305 (GRCm39) missense possibly damaging 0.46
PIT4514001:Cfap126 UTSW 1 170,952,881 (GRCm39) missense probably damaging 1.00
R0014:Cfap126 UTSW 1 170,953,353 (GRCm39) missense possibly damaging 0.55
R0466:Cfap126 UTSW 1 170,953,769 (GRCm39) missense probably damaging 1.00
R1496:Cfap126 UTSW 1 170,953,386 (GRCm39) utr 3 prime probably benign
R3684:Cfap126 UTSW 1 170,941,600 (GRCm39) missense possibly damaging 0.83
R4601:Cfap126 UTSW 1 170,941,627 (GRCm39) missense possibly damaging 0.81
R5960:Cfap126 UTSW 1 170,952,882 (GRCm39) missense probably damaging 1.00
R6717:Cfap126 UTSW 1 170,941,671 (GRCm39) splice site probably null
R6999:Cfap126 UTSW 1 170,953,733 (GRCm39) missense possibly damaging 0.92
R8212:Cfap126 UTSW 1 170,953,630 (GRCm39) missense probably damaging 1.00
R8934:Cfap126 UTSW 1 170,953,690 (GRCm39) missense probably benign
X0065:Cfap126 UTSW 1 170,954,308 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TTGGCAAGACAAGAGTGGCC -3'
(R):5'- AGACCTTAGTGATGAGGGACTG -3'

Sequencing Primer
(F):5'- CGTGAAGCCAGACAGCC -3'
(R):5'- AGACAGATTTGGTTAGAGGTCCCC -3'
Posted On 2014-10-30