Incidental Mutation 'R5804:Cfap97d1'
ID 448414
Institutional Source Beutler Lab
Gene Symbol Cfap97d1
Ensembl Gene ENSMUSG00000010841
Gene Name CFAP97 domain containing 1
Synonyms 1700006E09Rik
MMRRC Submission 043211-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5804 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101877882-101883090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101881640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 112 (N112S)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9DAN9
Predicted Effect probably damaging
Transcript: ENSMUST00000010985
AA Change: N112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: N112S

DomainStartEndE-ValueType
Pfam:KIAA1430 35 130 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect probably damaging
Transcript: ENSMUST00000176722
AA Change: N61S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: N61S

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,396,100 (GRCm39) R19* probably null Het
Abcb9 A G 5: 124,218,118 (GRCm39) M406T probably benign Het
Ager A G 17: 34,817,157 (GRCm39) E32G probably damaging Het
Cdk10 T A 8: 123,955,579 (GRCm39) probably null Het
Ctsl A T 13: 64,514,302 (GRCm39) Y259N probably damaging Het
Ctu2 T C 8: 123,207,965 (GRCm39) probably null Het
Dse T A 10: 34,029,375 (GRCm39) I572F possibly damaging Het
Flt1 A T 5: 147,517,247 (GRCm39) probably null Het
Gatm T A 2: 122,433,083 (GRCm39) Y193F probably benign Het
Gpaa1 T C 15: 76,216,826 (GRCm39) F170S probably damaging Het
Grm3 A G 5: 9,620,155 (GRCm39) L363P probably benign Het
Heatr5b G A 17: 79,138,951 (GRCm39) P64S probably damaging Het
Hfm1 A G 5: 107,026,455 (GRCm39) probably null Het
Hivep2 A C 10: 14,009,519 (GRCm39) K1725N probably benign Het
Hmcn1 A T 1: 150,550,098 (GRCm39) C2695* probably null Het
Hmgcr G A 13: 96,802,695 (GRCm39) T68M probably damaging Het
Igsf21 A T 4: 139,755,385 (GRCm39) D423E possibly damaging Het
Jag1 T C 2: 136,930,124 (GRCm39) N751S probably benign Het
Klrc2 A T 6: 129,637,436 (GRCm39) N28K possibly damaging Het
Lrrc8c A T 5: 105,727,423 (GRCm39) D29V possibly damaging Het
Mtcl1 A C 17: 66,650,132 (GRCm39) S1329A probably benign Het
Nin C T 12: 70,092,375 (GRCm39) V645I possibly damaging Het
Or4c127 T C 2: 89,833,332 (GRCm39) I194T possibly damaging Het
Or51i1 T C 7: 103,671,439 (GRCm39) I29V probably benign Het
Or8s2 T A 15: 98,276,215 (GRCm39) M259L probably benign Het
Or9g4 T A 2: 85,504,682 (GRCm39) D271V probably damaging Het
Pfpl A T 19: 12,407,027 (GRCm39) H426L probably benign Het
Poteg A G 8: 27,946,826 (GRCm39) D238G probably damaging Het
Psen1 T C 12: 83,778,474 (GRCm39) F386L probably damaging Het
Rassf9 A T 10: 102,380,905 (GRCm39) I96F probably damaging Het
Robo1 T C 16: 72,840,077 (GRCm39) probably null Het
Slc16a4 A T 3: 107,206,280 (GRCm39) M117L probably benign Het
Slc4a8 A G 15: 100,689,506 (GRCm39) N372S possibly damaging Het
Stmn4 G A 14: 66,593,748 (GRCm39) G47D probably benign Het
Tex26 A G 5: 149,386,612 (GRCm39) N137S possibly damaging Het
Ttn T A 2: 76,747,163 (GRCm39) I4629F probably benign Het
Ubash3a G A 17: 31,427,206 (GRCm39) probably null Het
Ube3d T C 9: 86,307,401 (GRCm39) I233V probably benign Het
Utrn T A 10: 12,297,369 (GRCm39) T680S probably damaging Het
Vps13d G A 4: 144,826,640 (GRCm39) T2846I probably benign Het
Zbtb22 TGGACCCGGGAC TGGACCCGGGACCCGGGAC 17: 34,137,593 (GRCm39) probably null Het
Zfp41 C T 15: 75,490,557 (GRCm39) P170S probably damaging Het
Other mutations in Cfap97d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cfap97d1 APN 11 101,881,646 (GRCm39) missense possibly damaging 0.75
IGL02442:Cfap97d1 APN 11 101,881,652 (GRCm39) missense probably benign 0.00
R1802:Cfap97d1 UTSW 11 101,879,302 (GRCm39) missense possibly damaging 0.56
R1937:Cfap97d1 UTSW 11 101,877,989 (GRCm39) missense probably damaging 0.97
R2015:Cfap97d1 UTSW 11 101,878,044 (GRCm39) missense probably damaging 1.00
R3732:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3732:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3733:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3813:Cfap97d1 UTSW 11 101,882,314 (GRCm39) missense probably benign 0.01
R7351:Cfap97d1 UTSW 11 101,882,331 (GRCm39) missense probably benign 0.01
R7451:Cfap97d1 UTSW 11 101,882,283 (GRCm39) missense possibly damaging 0.85
R8546:Cfap97d1 UTSW 11 101,881,687 (GRCm39) missense probably damaging 1.00
R9391:Cfap97d1 UTSW 11 101,881,655 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGAGCTCAACACTAAGACCTAAG -3'
(R):5'- AAGGGTGAGCCTCTCTGATG -3'

Sequencing Primer
(F):5'- GACCAGACTTCTAGCAGGCAGTG -3'
(R):5'- TGAGCCTCTCTGATGAGCATAGAC -3'
Posted On 2016-12-15