Incidental Mutation 'IGL01335:Cfap96'
ID 74614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap96
Ensembl Gene ENSMUSG00000071103
Gene Name cilia and flagella associated protein 96
Synonyms 1700029J07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01335
Quality Score
Status
Chromosome 8
Chromosomal Location 46406643-46428477 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 46426642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000095323] [ENSMUST00000098786] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000209443] [ENSMUST00000150943] [ENSMUST00000210081]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034051
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
Pfam:Peptidase_C78 268 453 1.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095323
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098786
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123041
Predicted Effect probably benign
Transcript: ENSMUST00000123307
Predicted Effect probably benign
Transcript: ENSMUST00000130412
Predicted Effect probably benign
Transcript: ENSMUST00000209443
Predicted Effect probably benign
Transcript: ENSMUST00000150943
Predicted Effect probably benign
Transcript: ENSMUST00000210081
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,284,307 (GRCm39) M300K possibly damaging Het
Adamts14 T A 10: 61,034,460 (GRCm39) R1143W possibly damaging Het
Ankrd28 T C 14: 31,423,981 (GRCm39) Y1083C probably damaging Het
Anxa8 T C 14: 33,811,547 (GRCm39) M34T probably damaging Het
Aox1 G T 1: 58,121,312 (GRCm39) E928* probably null Het
Atp8b5 T A 4: 43,302,628 (GRCm39) F50L possibly damaging Het
Brpf1 A G 6: 113,296,298 (GRCm39) S863G probably damaging Het
Cdc42bpb A G 12: 111,260,530 (GRCm39) probably benign Het
Cdh6 C T 15: 13,051,395 (GRCm39) A413T probably benign Het
Cfap97 A G 8: 46,623,492 (GRCm39) Q294R probably damaging Het
Cit C T 5: 116,046,889 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,690,497 (GRCm39) Y736C possibly damaging Het
Eno2 C T 6: 124,743,618 (GRCm39) G107E probably damaging Het
Gja8 T C 3: 96,826,558 (GRCm39) Q368R probably benign Het
Gm3633 T A 14: 42,462,595 (GRCm39) probably benign Het
Gm4987 A T X: 45,544,755 (GRCm39) noncoding transcript Het
Gna13 G A 11: 109,256,569 (GRCm39) R164Q probably damaging Het
Grhl1 A T 12: 24,658,057 (GRCm39) E351D probably damaging Het
Idua A G 5: 108,828,737 (GRCm39) Q280R probably benign Het
Igsf5 T A 16: 96,174,353 (GRCm39) probably benign Het
Mrpl52 T C 14: 54,664,656 (GRCm39) Y39H probably damaging Het
Naa16 A T 14: 79,582,556 (GRCm39) probably benign Het
Naa35 T A 13: 59,764,610 (GRCm39) L338Q probably damaging Het
Nat8l A T 5: 34,155,791 (GRCm39) Y149F probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Ncoa1 A T 12: 4,347,520 (GRCm39) S351R probably benign Het
Or10w1 A T 19: 13,632,540 (GRCm39) H249L probably damaging Het
Or12e10 A T 2: 87,640,790 (GRCm39) T209S probably damaging Het
Or6c8b T C 10: 128,882,380 (GRCm39) K184R probably benign Het
Or8k1 A T 2: 86,047,916 (GRCm39) L46Q probably damaging Het
Pacs1 A T 19: 5,192,660 (GRCm39) V624E probably damaging Het
Pde6b G A 5: 108,571,379 (GRCm39) R444H probably benign Het
Pigk A T 3: 152,448,173 (GRCm39) T226S probably benign Het
Prkdc T C 16: 15,634,760 (GRCm39) probably null Het
Ptbp1 G A 10: 79,698,708 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,307,484 (GRCm39) V418A probably damaging Het
Rhot1 A T 11: 80,141,055 (GRCm39) D421V probably damaging Het
Rimkla T C 4: 119,335,156 (GRCm39) T76A possibly damaging Het
Rtn1 A G 12: 72,355,124 (GRCm39) V274A probably benign Het
Tatdn2 T A 6: 113,681,017 (GRCm39) M289K probably benign Het
Trak1 A G 9: 121,283,382 (GRCm39) T476A possibly damaging Het
Ube2i C A 17: 25,488,410 (GRCm39) Q11H probably damaging Het
Ugt2a3 A T 5: 87,484,644 (GRCm39) C127S probably damaging Het
Uimc1 T A 13: 55,182,724 (GRCm39) Q619L probably benign Het
Upk3a T A 15: 84,903,786 (GRCm39) Y162N probably damaging Het
Usp33 T C 3: 152,097,854 (GRCm39) S849P probably damaging Het
Vmn2r120 G A 17: 57,832,732 (GRCm39) T149I possibly damaging Het
Vmn2r15 G A 5: 109,434,602 (GRCm39) P701S possibly damaging Het
Vmn2r28 T C 7: 5,484,087 (GRCm39) I704M possibly damaging Het
Wdhd1 T C 14: 47,488,239 (GRCm39) E756G possibly damaging Het
Xlr3c C A X: 72,303,639 (GRCm39) V102F probably benign Het
Zfp384 T G 6: 125,002,016 (GRCm39) D220E probably benign Het
Zfp521 A T 18: 13,977,776 (GRCm39) V879E probably benign Het
Other mutations in Cfap96
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-10-07