Incidental Mutation 'R0055:Cfap96'
ID 16016
Institutional Source Beutler Lab
Gene Symbol Cfap96
Ensembl Gene ENSMUSG00000071103
Gene Name cilia and flagella associated protein 96
Synonyms 1700029J07Rik
MMRRC Submission 038349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0055 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 46406643-46428477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46421198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 108 (S108R)
Ref Sequence ENSEMBL: ENSMUSP00000096383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095323] [ENSMUST00000098786]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000095323
AA Change: S108R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103
AA Change: S108R

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098786
AA Change: S108R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103
AA Change: S108R

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 80.9%
  • 20x: 71.2%
Validation Efficiency 85% (52/61)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,547,057 (GRCm39) probably benign Het
Atp6v1h A T 1: 5,154,677 (GRCm39) T2S probably benign Het
BC034090 A T 1: 155,117,404 (GRCm39) L238Q probably damaging Het
Ccdc61 T C 7: 18,626,461 (GRCm39) D128G probably damaging Het
Dennd5a A G 7: 109,498,998 (GRCm39) I955T possibly damaging Het
Ephx4 T C 5: 107,560,944 (GRCm39) L32S probably damaging Het
Fbxo21 T A 5: 118,138,555 (GRCm39) D493E probably benign Het
Frmd4b A T 6: 97,300,610 (GRCm39) probably benign Het
Fzd1 A T 5: 4,806,037 (GRCm39) M515K possibly damaging Het
Gli2 A G 1: 118,818,138 (GRCm39) probably benign Het
Gm12887 T A 4: 121,473,666 (GRCm39) K61N probably damaging Het
Grin2a A T 16: 9,487,671 (GRCm39) V409D probably damaging Het
Grin2b T C 6: 135,900,201 (GRCm39) I227V probably benign Het
Helz2 T G 2: 180,870,614 (GRCm39) D2879A possibly damaging Het
Itpr2 T C 6: 146,224,631 (GRCm39) N1453S probably benign Het
Lin7c T A 2: 109,726,798 (GRCm39) probably benign Het
Ly75 T C 2: 60,152,262 (GRCm39) E1097G probably benign Het
Mcm10 T C 2: 4,996,218 (GRCm39) N882D probably damaging Het
Mybph G T 1: 134,121,590 (GRCm39) V88L probably damaging Het
Nefm T A 14: 68,358,648 (GRCm39) probably benign Het
Nf1 A G 11: 79,362,377 (GRCm39) E1497G probably damaging Het
Or2j3 T C 17: 38,615,702 (GRCm39) S217G possibly damaging Het
Or51ah3 A G 7: 103,210,244 (GRCm39) K187E probably damaging Het
Or52e18 T A 7: 104,609,703 (GRCm39) T79S possibly damaging Het
Phf8-ps A T 17: 33,285,696 (GRCm39) W369R probably damaging Het
Plcd3 C G 11: 102,968,411 (GRCm39) W382S probably damaging Het
Plxna1 T A 6: 89,306,721 (GRCm39) I1370F possibly damaging Het
Qng1 T C 13: 58,531,980 (GRCm39) D192G probably damaging Het
Rarb G A 14: 16,509,066 (GRCm38) R106C probably damaging Het
Rps6ka5 G A 12: 100,644,839 (GRCm39) T37I probably damaging Het
Scube1 A G 15: 83,518,937 (GRCm39) V301A probably damaging Het
Slc25a45 T C 19: 5,930,495 (GRCm39) F3L probably damaging Het
Slfn10-ps A G 11: 82,921,126 (GRCm39) noncoding transcript Het
Slit2 C A 5: 48,439,068 (GRCm39) C1077* probably null Het
Ucp1 G T 8: 84,017,233 (GRCm39) E8* probably null Het
Zdhhc11 C T 13: 74,130,805 (GRCm39) Q295* probably null Het
Zfp457 T A 13: 67,442,098 (GRCm39) H63L probably damaging Het
Other mutations in Cfap96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Cfap96 APN 8 46,426,642 (GRCm39) unclassified probably benign
D4043:Cfap96 UTSW 8 46,409,440 (GRCm39) missense probably damaging 1.00
R0055:Cfap96 UTSW 8 46,421,198 (GRCm39) missense probably damaging 0.99
R0894:Cfap96 UTSW 8 46,409,497 (GRCm39) missense probably damaging 1.00
R1585:Cfap96 UTSW 8 46,409,515 (GRCm39) missense probably benign 0.19
R4513:Cfap96 UTSW 8 46,421,175 (GRCm39) missense probably damaging 1.00
R4600:Cfap96 UTSW 8 46,423,505 (GRCm39) missense probably damaging 0.99
R4601:Cfap96 UTSW 8 46,423,505 (GRCm39) missense probably damaging 0.99
R4602:Cfap96 UTSW 8 46,423,505 (GRCm39) missense probably damaging 0.99
R4603:Cfap96 UTSW 8 46,423,505 (GRCm39) missense probably damaging 0.99
R4610:Cfap96 UTSW 8 46,423,505 (GRCm39) missense probably damaging 0.99
R4734:Cfap96 UTSW 8 46,423,454 (GRCm39) missense possibly damaging 0.58
R4829:Cfap96 UTSW 8 46,420,952 (GRCm39) missense probably damaging 1.00
R5259:Cfap96 UTSW 8 46,415,373 (GRCm39) missense probably benign 0.04
R7031:Cfap96 UTSW 8 46,421,140 (GRCm39) missense probably benign 0.02
R7032:Cfap96 UTSW 8 46,409,474 (GRCm39) missense probably damaging 1.00
R7177:Cfap96 UTSW 8 46,423,444 (GRCm39) missense possibly damaging 0.50
R7488:Cfap96 UTSW 8 46,415,331 (GRCm39) missense probably benign
R7611:Cfap96 UTSW 8 46,423,488 (GRCm39) missense probably damaging 0.96
R7877:Cfap96 UTSW 8 46,423,436 (GRCm39) missense probably damaging 1.00
R9127:Cfap96 UTSW 8 46,415,403 (GRCm39) missense probably benign 0.37
R9495:Cfap96 UTSW 8 46,409,458 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-08