Incidental Mutation 'R9391:Cfap97d1'
ID 710605
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 # R9391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101877882-101883090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101881655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 117 (R117I)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9DAN9
Predicted Effect probably benign
Transcript: ENSMUST00000010985
AA Change: R117I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: R117I

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: R66I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: R66I

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,178,542 (GRCm39) T1144A probably benign Het
Adam32 C T 8: 25,374,472 (GRCm39) E507K probably damaging Het
Adgrf3 T C 5: 30,400,071 (GRCm39) E974G possibly damaging Het
Agbl1 A G 7: 76,071,602 (GRCm39) E560G unknown Het
Ank2 A T 3: 126,731,394 (GRCm39) H671Q probably damaging Het
Asic5 C T 3: 81,928,366 (GRCm39) T485M probably benign Het
Bco2 T C 9: 50,446,022 (GRCm39) probably null Het
C1qtnf6 A G 15: 78,415,516 (GRCm39) C23R unknown Het
Ccdc18 T C 5: 108,376,770 (GRCm39) F1404L probably benign Het
Cfap46 A T 7: 139,198,027 (GRCm39) I2107N unknown Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cpb2 A C 14: 75,508,136 (GRCm39) Q199P probably damaging Het
Dnah7b T A 1: 46,272,914 (GRCm39) Y2347* probably null Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
F2r A T 13: 95,740,656 (GRCm39) V293D probably damaging Het
Gm28363 G A 1: 117,626,629 (GRCm39) W22* probably null Het
Hira T C 16: 18,767,892 (GRCm39) S696P possibly damaging Het
Klhl2 A G 8: 65,275,684 (GRCm39) V73A probably damaging Het
Lalba A T 15: 98,380,417 (GRCm39) W46R probably damaging Het
Map3k13 C A 16: 21,740,665 (GRCm39) T664N probably benign Het
Ncor1 T A 11: 62,216,376 (GRCm39) K1166* probably null Het
Npdc1 T A 2: 25,297,979 (GRCm39) M176K possibly damaging Het
Obscn A G 11: 58,964,408 (GRCm39) S3045P probably damaging Het
Or13a20 G A 7: 140,232,272 (GRCm39) A127T probably damaging Het
Plekhg4 G C 8: 106,106,043 (GRCm39) K813N probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prdm12 G A 2: 31,544,162 (GRCm39) R255H probably benign Het
Rbbp8 T C 18: 11,854,990 (GRCm39) I405T possibly damaging Het
Sctr A G 1: 119,983,178 (GRCm39) T328A probably benign Het
Sec63 T A 10: 42,681,101 (GRCm39) S362T probably benign Het
Sgsm2 A G 11: 74,744,630 (GRCm39) L818P probably damaging Het
Shprh G A 10: 11,038,633 (GRCm39) V463I probably benign Het
Smyd5 T C 6: 85,418,739 (GRCm39) F241S probably damaging Het
Tax1bp1 T A 6: 52,735,220 (GRCm39) Y680* probably null Het
Tbc1d17 A G 7: 44,494,683 (GRCm39) S212P probably damaging Het
Tle1 A T 4: 72,116,159 (GRCm39) V62E probably damaging Het
Tnfaip3 G T 10: 18,883,075 (GRCm39) N163K probably damaging Het
Trim8 T A 19: 46,503,955 (GRCm39) Y502* probably null Het
Trip12 A T 1: 84,773,473 (GRCm39) F54L probably benign Het
Trpc2 T A 7: 101,745,067 (GRCm39) L761Q probably damaging Het
Vps41 A T 13: 18,994,616 (GRCm39) E154D probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACCAGACTTCTAGCAGGCAG -3'
(R):5'- CCATGTGGGGCTTTTCTCTGAC -3'

Sequencing Primer
(F):5'- ACTTCTAGCAGGCAGTGGAGC -3'
(R):5'- GACTGTGGCATTTCACATGATC -3'
Posted On 2022-04-18