Incidental Mutation 'IGL01732:Cfap126'
ID105533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap126
Ensembl Gene ENSMUSG00000026649
Gene Namecilia and flagella associated protein 126
Synonyms1700009P17Rik, Fltp, Flattop
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01732
Quality Score
Status
Chromosome1
Chromosomal Location171113918-171126967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 171126736 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000123188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027959] [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000124157] [ENSMUST00000127394] [ENSMUST00000129651] [ENSMUST00000143623] [ENSMUST00000151340]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027959
AA Change: V174A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649
AA Change: V174A

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
SMART Domains Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649

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: V218A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649
AA Change: V218A

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 noncoding transcript
Transcript: ENSMUST00000148200
Predicted Effect possibly damaging
Transcript: ENSMUST00000151340
AA Change: V174A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649
AA Change: V174A

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156789
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,642,160 E341* probably null Het
Alpk3 A G 7: 81,057,642 R5G unknown Het
Arhgef10l C T 4: 140,580,415 V113M probably damaging Het
Brca2 T A 5: 150,542,387 I1872K probably benign Het
Cdk17 C A 10: 93,218,045 P134T probably benign Het
Cerk A G 15: 86,146,316 S35P possibly damaging Het
Cfhr1 T C 1: 139,550,868 T255A probably benign Het
Clcn1 A G 6: 42,310,672 probably benign Het
Copz1 A G 15: 103,297,891 E151G probably benign Het
Cubn G A 2: 13,489,936 Q101* probably null Het
Eri1 T C 8: 35,491,243 E12G possibly damaging Het
Fam71f2 A T 6: 29,285,980 H146L probably damaging Het
Fut9 A G 4: 25,619,867 F316L possibly damaging Het
Gm973 A G 1: 59,630,237 I816V probably benign Het
Itln1 A G 1: 171,534,780 M11T probably benign Het
Klc2 C T 19: 5,109,797 R458Q probably damaging Het
Lrrc8b A T 5: 105,485,960 E766V probably damaging Het
Mmadhc A T 2: 50,281,185 I205N probably damaging Het
Myo10 A G 15: 25,732,063 I342V probably benign Het
Ncapg T A 5: 45,693,853 V796D probably damaging Het
Olfm3 A C 3: 115,097,000 D134A possibly damaging Het
Olfr402 T C 11: 74,155,453 C100R probably damaging Het
Olfr574 T A 7: 102,949,239 I248N probably damaging Het
Olfr661 T C 7: 104,688,336 M107T possibly damaging Het
Phldb3 A G 7: 24,627,326 E593G probably damaging Het
Plcg1 T A 2: 160,747,779 D74E probably damaging Het
Plekhm3 T C 1: 64,922,248 D283G probably benign Het
Pnpla6 C A 8: 3,522,616 T279N probably damaging Het
Prkcq G A 2: 11,260,833 probably benign Het
Rbm11 G A 16: 75,600,622 A147T probably benign Het
Rnf103 A G 6: 71,510,382 K666E probably damaging Het
Selenos A G 7: 66,080,389 Y45C probably damaging Het
Sept11 A G 5: 93,161,226 Y255C probably damaging Het
Serpinb3c T C 1: 107,271,972 H273R probably benign Het
Slc35f2 A G 9: 53,806,625 D141G probably damaging Het
Sntg2 A T 12: 30,312,649 Y33N probably damaging Het
Snx19 C A 9: 30,462,353 T904K probably damaging Het
Tenm4 A G 7: 96,895,509 Y2244C probably damaging Het
Tescl A G 7: 24,333,447 V151A probably damaging Het
Tnrc18 C T 5: 142,772,061 V902M unknown Het
Trmt13 A G 3: 116,581,464 L465S probably damaging Het
Ube2j2 T G 4: 155,957,331 V249G probably damaging Het
Zan T C 5: 137,393,011 K4737R unknown Het
Zc3h6 T C 2: 129,011,875 I430T probably damaging Het
Zfp750 G A 11: 121,512,993 S352L probably benign Het
Zfp819 A G 7: 43,616,422 K34E probably benign Het
Other mutations in Cfap126
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0014:Cfap126 UTSW 1 171125784 missense possibly damaging 0.55
R0466:Cfap126 UTSW 1 171126200 missense probably damaging 1.00
R1496:Cfap126 UTSW 1 171125817 utr 3 prime probably benign
R2317:Cfap126 UTSW 1 171126131 missense possibly damaging 0.82
R3684:Cfap126 UTSW 1 171114031 missense possibly damaging 0.83
R4601:Cfap126 UTSW 1 171114058 missense possibly damaging 0.81
R5960:Cfap126 UTSW 1 171125313 missense probably damaging 1.00
R6717:Cfap126 UTSW 1 171114102 splice site probably null
R6999:Cfap126 UTSW 1 171126164 missense possibly damaging 0.92
X0065:Cfap126 UTSW 1 171126739 missense possibly damaging 0.66
Posted On2014-01-21