Incidental Mutation 'IGL01347:Cfap100'
ID75095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Namecilia and flagella associated protein 100
SynonymsC030041G11Rik, C230069K22Rik, Ccdc37
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01347
Quality Score
Status
Chromosome6
Chromosomal Location90403479-90428797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 90406121 bp
ZygosityHeterozygous
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]
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
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Cfap100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Cfap100 APN 6 90415805 missense probably benign 0.36
IGL01067:Cfap100 APN 6 90406114 missense probably damaging 1.00
IGL01803:Cfap100 APN 6 90415735 missense probably benign 0.29
IGL01910:Cfap100 APN 6 90409624 missense probably damaging 0.99
IGL02086:Cfap100 APN 6 90413972 missense probably damaging 1.00
IGL02680:Cfap100 APN 6 90412235 missense probably benign 0.03
IGL03046:Cfap100 APN 6 90412350 splice site probably null
R0391:Cfap100 UTSW 6 90405339 splice site probably benign
R0883:Cfap100 UTSW 6 90415906 splice site probably benign
R1022:Cfap100 UTSW 6 90413004 missense possibly damaging 0.50
R1024:Cfap100 UTSW 6 90413004 missense possibly damaging 0.50
R1086:Cfap100 UTSW 6 90403908 nonsense probably null
R1440:Cfap100 UTSW 6 90412184 missense probably benign 0.06
R1914:Cfap100 UTSW 6 90412347 splice site probably benign
R1915:Cfap100 UTSW 6 90412347 splice site probably benign
R2257:Cfap100 UTSW 6 90413820 missense possibly damaging 0.83
R4370:Cfap100 UTSW 6 90413394 missense probably damaging 1.00
R4739:Cfap100 UTSW 6 90412843 critical splice donor site probably null
R4895:Cfap100 UTSW 6 90406102 missense possibly damaging 0.95
R5160:Cfap100 UTSW 6 90413710 critical splice donor site probably null
R5983:Cfap100 UTSW 6 90419391 intron probably benign
R6164:Cfap100 UTSW 6 90415786 missense probably benign 0.15
R6394:Cfap100 UTSW 6 90417623 missense possibly damaging 0.58
R6658:Cfap100 UTSW 6 90413418 missense probably damaging 0.99
R7094:Cfap100 UTSW 6 90413454 missense
R7254:Cfap100 UTSW 6 90406061 missense unknown
R7922:Cfap100 UTSW 6 90403980 missense unknown
R7983:Cfap100 UTSW 6 90415705 missense
R8169:Cfap100 UTSW 6 90417674 missense
Z1176:Cfap100 UTSW 6 90406150 missense unknown
Posted On2013-10-07