Incidental Mutation 'R7032:Cfap96'
ID 546383
Institutional Source Beutler Lab
Gene Symbol Cfap96
Ensembl Gene ENSMUSG00000071103
Gene Name cilia and flagella associated protein 96
Synonyms 1700029J07Rik
MMRRC Submission 045133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7032 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 46406643-46428477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 46409474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 282 (S282R)
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: S282R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103
AA Change: S282R

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098786
AA Change: S282R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103
AA Change: S282R

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,438 (GRCm39) D398E possibly damaging Het
Adam34 T C 8: 44,105,303 (GRCm39) Y114C probably damaging Het
Akap9 T A 5: 4,004,896 (GRCm39) D156E probably benign Het
Apba1 T A 19: 23,889,825 (GRCm39) S408T probably benign Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atf6 A T 1: 170,627,181 (GRCm39) probably null Het
Atp6v1b2 T A 8: 69,541,548 (GRCm39) V35E probably benign Het
Atp8a2 T C 14: 60,255,289 (GRCm39) probably null Het
Ccdc170 C A 10: 4,432,597 (GRCm39) P12Q unknown Het
Cdh23 C T 10: 60,167,567 (GRCm39) E1810K probably damaging Het
Cdo1 A T 18: 46,853,475 (GRCm39) F94L probably damaging Het
Chdh C T 14: 29,758,809 (GRCm39) P585S possibly damaging Het
Clasp2 A G 9: 113,683,391 (GRCm39) N407S probably benign Het
Clca3a1 T A 3: 144,453,329 (GRCm39) S465C probably benign Het
Clip2 C A 5: 134,551,484 (GRCm39) V213L probably damaging Het
Col6a6 A G 9: 105,644,707 (GRCm39) S1194P probably damaging Het
Cyp7a1 T C 4: 6,268,463 (GRCm39) T421A possibly damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dnah5 A G 15: 28,326,796 (GRCm39) N2002D probably damaging Het
Epn2 T A 11: 61,437,528 (GRCm39) N15Y probably damaging Het
Evi5 A C 5: 107,936,147 (GRCm39) V647G probably benign Het
Eya1 T C 1: 14,353,424 (GRCm39) probably null Het
Fam120a A G 13: 49,102,589 (GRCm39) V222A probably benign Het
Fastkd5 A T 2: 130,457,864 (GRCm39) I242K possibly damaging Het
Hnrnpul1 A G 7: 25,450,319 (GRCm39) M131T probably benign Het
Ice1 T C 13: 70,744,283 (GRCm39) N2100S probably damaging Het
Ifi205 T A 1: 173,855,916 (GRCm39) D38V possibly damaging Het
Klhl9 G A 4: 88,639,843 (GRCm39) Q133* probably null Het
Krt84 T C 15: 101,436,924 (GRCm39) E370G probably benign Het
Lrrc4c T C 2: 97,459,410 (GRCm39) I12T probably benign Het
Lrriq4 T A 3: 30,709,850 (GRCm39) L398* probably null Het
Ltf G A 9: 110,855,198 (GRCm39) probably null Het
Macf1 C T 4: 123,366,101 (GRCm39) V1322I probably benign Het
Mark2 T A 19: 7,264,698 (GRCm39) I112L probably damaging Het
Mettl25b A G 3: 87,831,649 (GRCm39) probably null Het
Mterf2 A T 10: 84,956,527 (GRCm39) C32* probably null Het
Myo3b C T 2: 69,925,608 (GRCm39) T25I probably damaging Het
Nsun7 A C 5: 66,421,378 (GRCm39) I115L probably benign Het
Olfm3 G A 3: 114,883,805 (GRCm39) V36M probably damaging Het
Or1p1c T C 11: 74,160,428 (GRCm39) I71T possibly damaging Het
Or5d44 T C 2: 88,141,373 (GRCm39) T256A probably benign Het
Or8b3 A T 9: 38,314,965 (GRCm39) Y262F possibly damaging Het
Or8g18 A T 9: 39,148,983 (GRCm39) S246T possibly damaging Het
Pcdhgb8 A T 18: 37,896,962 (GRCm39) R677S probably benign Het
Prrt4 A C 6: 29,170,538 (GRCm39) L638R possibly damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rab44 T C 17: 29,359,438 (GRCm39) F542S unknown Het
Rhobtb3 T A 13: 76,020,513 (GRCm39) E596D probably benign Het
Rpl36 T C 17: 56,920,944 (GRCm39) I44T probably benign Het
Rptor A G 11: 119,737,762 (GRCm39) I112V probably benign Het
Rxfp2 T C 5: 149,993,813 (GRCm39) I611T probably damaging Het
Slc12a4 G T 8: 106,675,865 (GRCm39) N553K probably damaging Het
Spata31d1d T A 13: 59,876,046 (GRCm39) R496S probably benign Het
Strbp T C 2: 37,493,125 (GRCm39) D387G possibly damaging Het
Tas2r107 A T 6: 131,636,153 (GRCm39) C299S possibly damaging Het
Tbc1d21 A T 9: 58,274,134 (GRCm39) probably null Het
Tdrd12 A T 7: 35,180,471 (GRCm39) Y847* probably null Het
Tlr2 A T 3: 83,745,212 (GRCm39) N290K probably benign Het
Tmppe A G 9: 114,234,858 (GRCm39) T386A probably damaging Het
Tnks1bp1 C A 2: 84,892,297 (GRCm39) H741Q probably benign Het
Trpc6 G A 9: 8,609,951 (GRCm39) V140M probably damaging Het
Ttn T C 2: 76,641,932 (GRCm39) D13427G probably damaging Het
Uba7 C A 9: 107,853,371 (GRCm39) L106I possibly damaging Het
Unc5b T G 10: 60,614,587 (GRCm39) T237P probably damaging Het
Vit A C 17: 78,932,294 (GRCm39) D467A probably damaging Het
Vmn1r103 T C 7: 20,243,780 (GRCm39) Y227C possibly damaging Het
Vmn1r77 T A 7: 11,776,017 (GRCm39) Y196* probably null Het
Zhx3 A G 2: 160,622,898 (GRCm39) V423A 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
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
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'- TGCTGGCTTTGTAAAGGACC -3'
(R):5'- CTGGGGTTTGAACAGAATGAATAAC -3'

Sequencing Primer
(F):5'- CTTTGTAAAGGACCCAGCAGAGC -3'
(R):5'- CTCCGTCGGCTAGAAAAGTATATAG -3'
Posted On 2019-05-13