Incidental Mutation 'R6935:Cfap97d2'
ID 540251
Institutional Source Beutler Lab
Gene Symbol Cfap97d2
Ensembl Gene ENSMUSG00000090336
Gene Name CFAP97 domain containing 2
Synonyms 4932443I19Rik
MMRRC Submission 045008-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6935 (G1)
Quality Score 217.468
Status Validated
Chromosome 8
Chromosomal Location 13755889-13793414 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CA to CAA at 13784865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166277] [ENSMUST00000214337]
AlphaFold G3UW36
Predicted Effect probably null
Transcript: ENSMUST00000166277
SMART Domains Protein: ENSMUSP00000127953
Gene: ENSMUSG00000090336

DomainStartEndE-ValueType
Pfam:KIAA1430 26 98 5.3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214337
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,864 (GRCm39) H14L probably benign Het
Adar A G 3: 89,654,525 (GRCm39) N368D probably benign Het
Adcy10 T C 1: 165,334,204 (GRCm39) V71A probably benign Het
Ank1 C T 8: 23,598,247 (GRCm39) T755I probably damaging Het
Aoc1 A T 6: 48,885,161 (GRCm39) Y632F probably damaging Het
Bbc3 A G 7: 16,046,124 (GRCm39) D20G possibly damaging Het
Bche T G 3: 73,609,133 (GRCm39) I98L probably benign Het
Col12a1 A G 9: 79,607,782 (GRCm39) Y349H possibly damaging Het
Crip2 T C 12: 113,104,213 (GRCm39) C8R probably damaging Het
Dhx58 T A 11: 100,589,232 (GRCm39) probably null Het
Dnah2 G A 11: 69,312,567 (GRCm39) R4333C probably damaging Het
Dnajb12 T C 10: 59,732,325 (GRCm39) probably null Het
Dzank1 T C 2: 144,318,014 (GRCm39) E718G possibly damaging Het
Erfl C A 7: 24,627,986 (GRCm39) G181V possibly damaging Het
Fbxo28 C T 1: 182,169,025 (GRCm39) G38R unknown Het
Foxb2 A G 19: 16,849,983 (GRCm39) F341S probably benign Het
Gabrb3 T A 7: 57,241,561 (GRCm39) I29N probably damaging Het
Gm7298 G A 6: 121,744,653 (GRCm39) R557H probably benign Het
Itih3 T A 14: 30,634,659 (GRCm39) Q116L possibly damaging Het
Lingo1 T C 9: 56,527,149 (GRCm39) Y480C probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mbd5 A G 2: 49,169,824 (GRCm39) Y113C probably damaging Het
Mcm3ap C T 10: 76,340,087 (GRCm39) P1453S possibly damaging Het
Mdn1 T G 4: 32,774,041 (GRCm39) F5551V possibly damaging Het
Myo16 T A 8: 10,619,820 (GRCm39) M1457K probably benign Het
Nbeal2 T A 9: 110,468,459 (GRCm39) E372V probably damaging Het
Ncam2 T A 16: 81,323,879 (GRCm39) S508T probably benign Het
Nebl A T 2: 17,353,637 (GRCm39) D971E probably damaging Het
Nlrp10 A T 7: 108,526,107 (GRCm39) M77K probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2y1d A G 11: 49,321,825 (GRCm39) N174S probably damaging Het
Or52ad1 A T 7: 102,996,002 (GRCm39) N44K probably damaging Het
Or8c18 G T 9: 38,203,413 (GRCm39) M57I probably benign Het
Pidd1 A T 7: 141,020,215 (GRCm39) D570E probably damaging Het
Ppfia3 T C 7: 45,001,631 (GRCm39) D427G possibly damaging Het
Prex1 T C 2: 166,441,575 (GRCm39) Y364C probably damaging Het
Prlr A G 15: 10,319,388 (GRCm39) S142G probably damaging Het
Rack1 T C 11: 48,694,322 (GRCm39) V174A probably damaging Het
Rhbdl3 C T 11: 80,228,322 (GRCm39) A264V probably damaging Het
Sh3bp5 T A 14: 31,101,473 (GRCm39) M170L probably damaging Het
Skint5 A T 4: 113,799,793 (GRCm39) F125L possibly damaging Het
Slc6a4 T C 11: 76,917,994 (GRCm39) Y579H probably benign Het
Tmem106b A T 6: 13,081,554 (GRCm39) T154S possibly damaging Het
Xrcc5 A G 1: 72,382,189 (GRCm39) D455G possibly damaging Het
Other mutations in Cfap97d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4723:Cfap97d2 UTSW 8 13,785,937 (GRCm39) missense probably damaging 0.97
R5741:Cfap97d2 UTSW 8 13,784,835 (GRCm39) missense possibly damaging 0.81
R5921:Cfap97d2 UTSW 8 13,784,840 (GRCm39) missense probably damaging 1.00
R6254:Cfap97d2 UTSW 8 13,756,043 (GRCm39) missense possibly damaging 0.87
R6932:Cfap97d2 UTSW 8 13,784,865 (GRCm39) frame shift probably null
R6933:Cfap97d2 UTSW 8 13,784,865 (GRCm39) frame shift probably null
R7923:Cfap97d2 UTSW 8 13,788,456 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTCACTTCTGAGGGTTGCTG -3'
(R):5'- AGAACAGGTTCAGTTAGCCCTTTG -3'

Sequencing Primer
(F):5'- CACTTCTGAGGGTTGCTGAAATCC -3'
(R):5'- AGTTAGCCCTTTGGTGACAC -3'
Posted On 2018-11-06