Incidental Mutation 'R3813:Cfap97d1'
ID 274161
Institutional Source Beutler Lab
Gene Symbol Cfap97d1
Ensembl Gene ENSMUSG00000010841
Gene Name CFAP97 domain containing 1
Synonyms 1700006E09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3813 (G1)
Quality Score 224
Status Validated
Chromosome 11
Chromosomal Location 101877882-101883090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101882314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 106 (R106S)
Ref Sequence ENSEMBL: ENSMUSP00000134890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9DAN9
Predicted Effect probably benign
Transcript: ENSMUST00000010985
AA Change: R157S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: R157S

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 benign
Transcript: ENSMUST00000176722
AA Change: R106S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: R106S

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,825,785 (GRCm39) D1018G possibly damaging Het
Adgrg1 T A 8: 95,738,193 (GRCm39) L562Q probably benign Het
Ankrd11 T C 8: 123,618,117 (GRCm39) T1891A probably benign Het
Arid2 A G 15: 96,267,831 (GRCm39) N648S probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cacna1s A T 1: 136,013,085 (GRCm39) I312F probably damaging Het
Cenpj A G 14: 56,790,679 (GRCm39) S457P probably benign Het
Cep120 G A 18: 53,873,284 (GRCm39) probably benign Het
Cfap70 T A 14: 20,471,190 (GRCm39) I493L possibly damaging Het
Csmd3 T C 15: 48,655,209 (GRCm39) D31G possibly damaging Het
Cstf3 T C 2: 104,439,466 (GRCm39) Y54H probably damaging Het
Cubn T A 2: 13,299,136 (GRCm39) Y3179F probably damaging Het
Cyp2s1 C T 7: 25,505,291 (GRCm39) probably null Het
Dll4 C A 2: 119,161,510 (GRCm39) T364N possibly damaging Het
Doc2g C T 19: 4,054,466 (GRCm39) probably null Het
Etl4 A G 2: 20,793,246 (GRCm39) E657G probably damaging Het
Fhdc1 A G 3: 84,371,577 (GRCm39) probably null Het
Fndc1 T C 17: 7,992,154 (GRCm39) H514R unknown Het
Gpat3 A G 5: 101,039,505 (GRCm39) probably benign Het
H2-Q4 A G 17: 35,602,071 (GRCm39) H311R possibly damaging Het
Hipk4 T C 7: 27,223,372 (GRCm39) L144S probably damaging Het
Hspa4 G A 11: 53,161,806 (GRCm39) P449S probably benign Het
Kif7 A G 7: 79,363,638 (GRCm39) V90A probably damaging Het
Klhl38 T C 15: 58,185,953 (GRCm39) I259V probably benign Het
Krt9 T A 11: 100,080,503 (GRCm39) E414D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrriq1 T C 10: 103,051,972 (GRCm39) E260G probably damaging Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Manba G A 3: 135,269,023 (GRCm39) E643K possibly damaging Het
Mc3r T A 2: 172,090,799 (GRCm39) L7Q probably benign Het
Mdga1 G A 17: 30,057,453 (GRCm39) P788S probably damaging Het
Or5d35 T C 2: 87,855,105 (GRCm39) F13S probably damaging Het
Or6c70 T A 10: 129,709,855 (GRCm39) Y257F probably damaging Het
Pcdh12 G A 18: 38,416,667 (GRCm39) R153* probably null Het
Plk3 T C 4: 116,990,647 (GRCm39) Y89C probably damaging Het
Prss41 G A 17: 24,056,596 (GRCm39) R160* probably null Het
Rae1 T A 2: 172,848,666 (GRCm39) probably benign Het
Rbm17 T A 2: 11,600,246 (GRCm39) probably benign Het
Recql4 A T 15: 76,588,694 (GRCm39) M1039K possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slit3 A G 11: 35,566,806 (GRCm39) Y1026C probably damaging Het
Tbl2 T A 5: 135,185,375 (GRCm39) probably null Het
Tex2 G A 11: 106,402,770 (GRCm39) T1034I unknown Het
Tmem241 A T 18: 12,200,167 (GRCm39) probably benign Het
Tmtc1 T C 6: 148,256,389 (GRCm39) probably benign Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Trmt1 T A 8: 85,421,846 (GRCm39) probably benign Het
Vps37d G A 5: 135,103,304 (GRCm39) Q113* probably null Het
Zup1 T C 10: 33,816,218 (GRCm39) E242G possibly 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
R5804:Cfap97d1 UTSW 11 101,881,640 (GRCm39) missense probably damaging 1.00
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'- CGGCCCCATTTAGGAACAATTC -3'
(R):5'- CATTTCCAGAAGAATGAACGAGC -3'

Sequencing Primer
(F):5'- GCCAGGACTAGTTAGTATTGAGATCC -3'
(R):5'- TTCCAGAAGAATGAACGAGCTCTCAG -3'
Posted On 2015-04-02