Incidental Mutation 'R3748:Cfap68'
ID 309930
Institutional Source Beutler Lab
Gene Symbol Cfap68
Ensembl Gene ENSMUSG00000037971
Gene Name cilia and flagella associated protein 68
Synonyms 1110032A03Rik
MMRRC Submission 040733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3748 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50672674-50679536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50677050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 14 (C14R)
Ref Sequence ENSEMBL: ENSMUSP00000046890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042391] [ENSMUST00000042468] [ENSMUST00000042576] [ENSMUST00000176145] [ENSMUST00000176238] [ENSMUST00000176335] [ENSMUST00000177546] [ENSMUST00000177384]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042391
SMART Domains Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 176 1.4e-44 PFAM
low complexity region 258 269 N/A INTRINSIC
SCOP:d1jjca_ 487 516 6e-4 SMART
FDX-ACB 528 622 5.88e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042468
SMART Domains Protein: ENSMUSP00000041803
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 1 149 7.7e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042576
AA Change: C14R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046890
Gene: ENSMUSG00000037971
AA Change: C14R

DomainStartEndE-ValueType
Pfam:DUF1143 15 164 1.8e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176160
Predicted Effect probably benign
Transcript: ENSMUST00000176238
SMART Domains Protein: ENSMUSP00000135679
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 1 70 4.2e-47 PFAM
Pfam:DUF1143 68 126 5.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177022
Predicted Effect probably benign
Transcript: ENSMUST00000176335
SMART Domains Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
SCOP:d1jjca_ 285 314 3e-4 SMART
FDX-ACB 326 420 5.88e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177546
SMART Domains Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971

DomainStartEndE-ValueType
Pfam:DUF1143 13 72 3.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177384
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,422 (GRCm39) probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca13 T C 11: 9,266,119 (GRCm39) probably benign Het
Acaca A G 11: 84,202,235 (GRCm39) probably null Het
Adam2 C T 14: 66,297,361 (GRCm39) V182I probably benign Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cmss1 T C 16: 57,122,635 (GRCm39) E253G probably damaging Het
Csmd1 T G 8: 15,956,071 (GRCm39) N3379H probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Daam1 C A 12: 72,017,940 (GRCm39) D716E probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Golgb1 G C 16: 36,739,274 (GRCm39) D2538H probably benign Het
Hoxc12 A G 15: 102,846,813 (GRCm39) E235G probably damaging Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mfsd4b4 A G 10: 39,770,132 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nrp1 T C 8: 129,184,461 (GRCm39) W369R probably damaging Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Or13a19 T C 7: 139,903,041 (GRCm39) L143P possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Tdh T C 14: 63,733,442 (GRCm39) T149A probably benign Het
Tnip3 C T 6: 65,591,747 (GRCm39) L249F probably damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vmn2r27 T C 6: 124,207,351 (GRCm39) I97V probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging Het
Other mutations in Cfap68
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1535:Cfap68 UTSW 9 50,675,307 (GRCm39) missense probably damaging 0.97
R2145:Cfap68 UTSW 9 50,676,174 (GRCm39) missense probably damaging 1.00
R5258:Cfap68 UTSW 9 50,675,633 (GRCm39) intron probably benign
R5337:Cfap68 UTSW 9 50,677,049 (GRCm39) missense probably benign
R5408:Cfap68 UTSW 9 50,676,057 (GRCm39) missense probably damaging 1.00
R5672:Cfap68 UTSW 9 50,675,227 (GRCm39) missense probably benign 0.03
R6242:Cfap68 UTSW 9 50,675,215 (GRCm39) missense probably benign 0.00
R6326:Cfap68 UTSW 9 50,676,057 (GRCm39) missense probably damaging 1.00
R7440:Cfap68 UTSW 9 50,676,213 (GRCm39) missense probably benign 0.01
R7908:Cfap68 UTSW 9 50,675,248 (GRCm39) missense possibly damaging 0.73
RF008:Cfap68 UTSW 9 50,677,067 (GRCm39) missense probably benign 0.02
Z1176:Cfap68 UTSW 9 50,679,519 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CAATCAGTAGTTACCCTCCCAATG -3'
(R):5'- GATGATGTGAGGGCAGTCAC -3'

Sequencing Primer
(F):5'- TCAGTAGTTACCCTCCCAATGAATAG -3'
(R):5'- TGTGAGGGCAGTCACCTACAATC -3'
Posted On 2015-04-17