Incidental Mutation 'IGL00094:Cfap97d1'
ID 1129
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00094
Quality Score
Status
Chromosome 11
Chromosomal Location 101877882-101883090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101881646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 114 (E114G)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9DAN9
Predicted Effect possibly damaging
Transcript: ENSMUST00000010985
AA Change: E114G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: E114G

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 possibly damaging
Transcript: ENSMUST00000176722
AA Change: E63G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: E63G

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,591,254 (GRCm39) N547K probably benign Het
Abca13 A G 11: 9,247,443 (GRCm39) T2397A probably benign Het
Abcc1 A G 16: 14,288,398 (GRCm39) N1341S probably null Het
Adcy9 T A 16: 4,122,446 (GRCm39) I535L probably benign Het
Akap6 A G 12: 53,187,763 (GRCm39) S1726G possibly damaging Het
Ap3d1 T C 10: 80,577,813 (GRCm39) M5V probably benign Het
Ash1l T A 3: 88,889,019 (GRCm39) N299K probably benign Het
B3gnt2 C T 11: 22,786,151 (GRCm39) V346I probably benign Het
Ceacam14 G A 7: 17,548,062 (GRCm39) V51I probably damaging Het
Cfap69 T C 5: 5,634,682 (GRCm39) D812G probably damaging Het
Chrna9 T C 5: 66,126,600 (GRCm39) V118A probably benign Het
Cpsf7 A G 19: 10,517,151 (GRCm39) R418G probably damaging Het
Csnk1g3 T C 18: 54,052,075 (GRCm39) Y215H probably damaging Het
Dcaf5 A C 12: 80,386,097 (GRCm39) N676K probably benign Het
Dld A T 12: 31,385,576 (GRCm39) M255K probably benign Het
Esr2 A T 12: 76,180,670 (GRCm39) L417H probably damaging Het
Fsip2 T A 2: 82,820,730 (GRCm39) S5488T probably benign Het
Gatb A T 3: 85,509,227 (GRCm39) I130L possibly damaging Het
Gbp9 T C 5: 105,229,130 (GRCm39) K506E probably benign Het
Hkdc1 T C 10: 62,229,568 (GRCm39) N703S probably damaging Het
Itgb3 T A 11: 104,524,410 (GRCm39) V182E probably damaging Het
Itih4 A T 14: 30,617,426 (GRCm39) Y582F probably damaging Het
Lancl2 T A 6: 57,701,522 (GRCm39) probably benign Het
Lgals3 A G 14: 47,622,175 (GRCm39) K197R probably benign Het
Lipe T C 7: 25,082,977 (GRCm39) T767A probably damaging Het
Lrp2 T A 2: 69,338,123 (GRCm39) D1219V probably damaging Het
Lrriq3 T A 3: 154,806,698 (GRCm39) C116S probably benign Het
Mcm5 T G 8: 75,851,573 (GRCm39) probably null Het
Mtpn G T 6: 35,499,711 (GRCm39) T31K probably damaging Het
Mycbp2 A T 14: 103,460,486 (GRCm39) Y1494N probably damaging Het
Nbeal1 G T 1: 60,274,350 (GRCm39) E498* probably null Het
Nos1 T G 5: 118,048,165 (GRCm39) S657A probably damaging Het
Nr3c1 A T 18: 39,561,661 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or13a17 A T 7: 140,271,349 (GRCm39) H177L probably damaging Het
Or4c127 T A 2: 89,833,365 (GRCm39) I205N possibly damaging Het
Or7g32 T A 9: 19,408,155 (GRCm39) I37N probably damaging Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Or8s8 T G 15: 98,354,299 (GRCm39) V36G possibly damaging Het
Or9i1 A T 19: 13,839,150 (GRCm39) probably benign Het
Osbp2 T G 11: 3,661,848 (GRCm39) S735R probably benign Het
Otop3 A T 11: 115,235,279 (GRCm39) T304S probably benign Het
Pcdhac2 A T 18: 37,278,128 (GRCm39) L369F probably damaging Het
Pick1 T C 15: 79,131,457 (GRCm39) probably benign Het
Prlhr A T 19: 60,456,119 (GRCm39) V149E probably damaging Het
Prss12 G A 3: 123,280,598 (GRCm39) probably benign Het
Rab19 A T 6: 39,365,132 (GRCm39) probably benign Het
Ralgapb T C 2: 158,262,776 (GRCm39) W5R probably damaging Het
Rfx4 T A 10: 84,676,063 (GRCm39) L44Q probably damaging Het
Scube2 T C 7: 109,407,661 (GRCm39) T760A probably damaging Het
Shcbp1 A C 8: 4,804,258 (GRCm39) Y145* probably null Het
Snx31 T A 15: 36,545,761 (GRCm39) probably null Het
Spopl A T 2: 23,427,643 (GRCm39) V163E possibly damaging Het
Sqor T C 2: 122,629,463 (GRCm39) I107T probably damaging Het
Tcte1 T C 17: 45,845,854 (GRCm39) F153L probably damaging Het
Tnfrsf11b T A 15: 54,123,238 (GRCm39) H121L probably damaging Het
Tnip1 G T 11: 54,831,643 (GRCm39) Y10* probably null Het
Tnxb G T 17: 34,904,603 (GRCm39) G1123C probably damaging Het
Wdr62 T C 7: 29,942,948 (GRCm39) E515G probably benign Het
Zfand1 A T 3: 10,413,590 (GRCm39) D32E probably null Het
Zfp112 A C 7: 23,821,668 (GRCm39) T3P probably damaging Het
Other mutations in Cfap97d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12