Incidental Mutation 'R4513:Cfap96'
ID 334515
Institutional Source Beutler Lab
Gene Symbol Cfap96
Ensembl Gene ENSMUSG00000071103
Gene Name cilia and flagella associated protein 96
Synonyms 1700029J07Rik
MMRRC Submission 041759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4513 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 46406643-46428477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46421175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 116 (T116K)
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: T116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103
AA Change: T116K

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098786
AA Change: T116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103
AA Change: T116K

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Meta Mutation Damage Score 0.1707 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (56/56)
Allele List at MGI

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

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,717,947 (GRCm39) I320V probably benign Het
Akap6 T C 12: 52,842,787 (GRCm39) V45A probably benign Het
Ankrd28 A T 14: 31,465,242 (GRCm39) S312T probably damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Cntn3 A T 6: 102,145,943 (GRCm39) I966N probably benign Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Dmxl2 A C 9: 54,327,168 (GRCm39) S952R probably null Het
Dop1a G A 9: 86,402,612 (GRCm39) E1271K probably benign Het
Fgfr3 A G 5: 33,880,460 (GRCm39) probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Guf1 T C 5: 69,719,005 (GRCm39) V230A probably benign Het
Hsd17b14 C T 7: 45,212,339 (GRCm39) L124F probably benign Het
Id3 G T 4: 135,871,669 (GRCm39) probably benign Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Lgr4 T C 2: 109,842,361 (GRCm39) M782T possibly damaging Het
Lsm12 T C 11: 102,057,909 (GRCm39) probably null Het
Map1b T A 13: 99,580,741 (GRCm39) D117V probably damaging Het
Map3k11 A G 19: 5,752,238 (GRCm39) T807A probably damaging Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mapkbp1 T A 2: 119,854,174 (GRCm39) I1257N possibly damaging Het
Mcm3 A G 1: 20,880,456 (GRCm39) Y459H probably damaging Het
Mkln1 T C 6: 31,410,093 (GRCm39) probably benign Het
Msh5 A T 17: 35,249,664 (GRCm39) I627N possibly damaging Het
Nfkbiz T C 16: 55,637,204 (GRCm39) H488R probably benign Het
Nrg1 G T 8: 32,967,105 (GRCm39) probably benign Het
Or1j19 A G 2: 36,676,782 (GRCm39) M82V probably benign Het
Or51q1 T C 7: 103,628,648 (GRCm39) V89A probably benign Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5b120 A T 19: 13,479,986 (GRCm39) Y93F probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhg4 T A 8: 106,107,034 (GRCm39) C910S probably damaging Het
Ppp1r18 A G 17: 36,179,196 (GRCm39) E357G probably damaging Het
Pramel23 T C 4: 143,424,718 (GRCm39) M242V probably benign Het
Rbm11 T C 16: 75,393,475 (GRCm39) F57S probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Skint5 A G 4: 113,599,382 (GRCm39) V719A unknown Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,992 (GRCm39) Y232* probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Spanxn4 A T 12: 62,734,886 (GRCm39) noncoding transcript Het
Spata31d1d T C 13: 59,876,368 (GRCm39) Q389R probably benign Het
Srgap1 A G 10: 121,706,231 (GRCm39) probably null Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Tle2 A G 10: 81,423,394 (GRCm39) D491G probably damaging Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trav6-3 A G 14: 53,667,548 (GRCm39) T7A probably benign Het
Ube2q2 C A 9: 55,057,084 (GRCm39) P56T probably benign Het
Unc79 T C 12: 102,988,019 (GRCm39) V208A probably damaging Het
Xkr7 T C 2: 152,896,553 (GRCm39) I469T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTGCTTGCCTATGGTAACATTG -3'
(R):5'- GCTTCTTCCCTCCACAGAAG -3'

Sequencing Primer
(F):5'- TGGTAACATTGGCATAGCTAAAAC -3'
(R):5'- ACTTGTGGTGATGTATATAACA -3'
Posted On 2015-08-18