Incidental Mutation 'IGL01347:Cfap100'
ID 75095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Name cilia and flagella associated protein 100
Synonyms Ccdc37, C230069K22Rik, C030041G11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL01347
Quality Score
Status
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90383103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 511 (V511M)
Ref Sequence ENSEMBL: ENSMUSP00000126515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000075117] [ENSMUST00000153843] [ENSMUST00000165673]
AlphaFold Q80VN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000062750
AA Change: V357M

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: V357M

DomainStartEndE-ValueType
Pfam:DUF4200 1 127 5.4e-26 PFAM
coiled coil region 242 282 N/A INTRINSIC
low complexity region 289 309 N/A INTRINSIC
coiled coil region 374 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075117
SMART Domains Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430

DomainStartEndE-ValueType
low complexity region 22 73 N/A INTRINSIC
low complexity region 105 115 N/A INTRINSIC
low complexity region 134 152 N/A INTRINSIC
ZnF_C2H2 176 200 4.79e-3 SMART
ZnF_C2H2 209 233 4.3e-5 SMART
ZnF_C2H2 239 263 4.3e-5 SMART
ZnF_C2H2 269 291 1.69e-3 SMART
ZnF_C2H2 298 322 1.82e-3 SMART
ZnF_C2H2 329 353 1.26e-2 SMART
ZnF_C2H2 359 383 1.36e-2 SMART
ZnF_C2H2 389 413 5.21e-4 SMART
ZnF_C2H2 419 443 4.72e-2 SMART
ZnF_C2H2 452 477 3.07e-1 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 635 651 N/A INTRINSIC
low complexity region 799 811 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153843
Predicted Effect possibly damaging
Transcript: ENSMUST00000165673
AA Change: V511M

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: V511M

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
Pfam:DUF4200 154 272 1.2e-35 PFAM
coiled coil region 396 436 N/A INTRINSIC
low complexity region 443 463 N/A INTRINSIC
coiled coil region 528 581 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Cfap100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Cfap100 APN 6 90,392,787 (GRCm39) missense probably benign 0.36
IGL01067:Cfap100 APN 6 90,383,096 (GRCm39) missense probably damaging 1.00
IGL01803:Cfap100 APN 6 90,392,717 (GRCm39) missense probably benign 0.29
IGL01910:Cfap100 APN 6 90,386,606 (GRCm39) missense probably damaging 0.99
IGL02086:Cfap100 APN 6 90,390,954 (GRCm39) missense probably damaging 1.00
IGL02680:Cfap100 APN 6 90,389,217 (GRCm39) missense probably benign 0.03
IGL03046:Cfap100 APN 6 90,389,332 (GRCm39) splice site probably null
R0391:Cfap100 UTSW 6 90,382,321 (GRCm39) splice site probably benign
R0883:Cfap100 UTSW 6 90,392,888 (GRCm39) splice site probably benign
R1022:Cfap100 UTSW 6 90,389,986 (GRCm39) missense possibly damaging 0.50
R1024:Cfap100 UTSW 6 90,389,986 (GRCm39) missense possibly damaging 0.50
R1086:Cfap100 UTSW 6 90,380,890 (GRCm39) nonsense probably null
R1440:Cfap100 UTSW 6 90,389,166 (GRCm39) missense probably benign 0.06
R1914:Cfap100 UTSW 6 90,389,329 (GRCm39) splice site probably benign
R1915:Cfap100 UTSW 6 90,389,329 (GRCm39) splice site probably benign
R2257:Cfap100 UTSW 6 90,390,802 (GRCm39) missense possibly damaging 0.83
R4370:Cfap100 UTSW 6 90,390,376 (GRCm39) missense probably damaging 1.00
R4739:Cfap100 UTSW 6 90,389,825 (GRCm39) critical splice donor site probably null
R4895:Cfap100 UTSW 6 90,383,084 (GRCm39) missense possibly damaging 0.95
R5160:Cfap100 UTSW 6 90,390,692 (GRCm39) critical splice donor site probably null
R5983:Cfap100 UTSW 6 90,396,373 (GRCm39) intron probably benign
R6164:Cfap100 UTSW 6 90,392,768 (GRCm39) missense probably benign 0.15
R6394:Cfap100 UTSW 6 90,394,605 (GRCm39) missense possibly damaging 0.58
R6658:Cfap100 UTSW 6 90,390,400 (GRCm39) missense probably damaging 0.99
R7094:Cfap100 UTSW 6 90,390,436 (GRCm39) missense
R7254:Cfap100 UTSW 6 90,383,043 (GRCm39) missense unknown
R7922:Cfap100 UTSW 6 90,380,962 (GRCm39) missense unknown
R7983:Cfap100 UTSW 6 90,392,687 (GRCm39) missense
R8169:Cfap100 UTSW 6 90,394,656 (GRCm39) missense
R8490:Cfap100 UTSW 6 90,390,721 (GRCm39) utr 3 prime probably benign
R8835:Cfap100 UTSW 6 90,386,597 (GRCm39) missense
R9080:Cfap100 UTSW 6 90,383,183 (GRCm39) missense unknown
R9124:Cfap100 UTSW 6 90,386,330 (GRCm39) missense
R9185:Cfap100 UTSW 6 90,390,416 (GRCm39) missense
R9663:Cfap100 UTSW 6 90,386,328 (GRCm39) missense
Z1176:Cfap100 UTSW 6 90,383,132 (GRCm39) missense unknown
Posted On 2013-10-07