Incidental Mutation 'R4280:Cimip3'
ID 322869
Institutional Source Beutler Lab
Gene Symbol Cimip3
Ensembl Gene ENSMUSG00000047150
Gene Name ciliary microtubule inner protein 3
Synonyms 1700001C19Rik
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R4280 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 47723659-47748301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47724780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 17 (M17V)
Ref Sequence ENSEMBL: ENSMUSP00000072887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061885] [ENSMUST00000073143] [ENSMUST00000177586]
AlphaFold Q8K168
Predicted Effect probably benign
Transcript: ENSMUST00000061885
AA Change: M114V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000050873
Gene: ENSMUSG00000047150
AA Change: M114V

DomainStartEndE-ValueType
low complexity region 74 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073143
AA Change: M17V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160678
Predicted Effect probably benign
Transcript: ENSMUST00000177586
SMART Domains Protein: ENSMUSP00000137136
Gene: ENSMUSG00000096361

DomainStartEndE-ValueType
Pfam:MRFAP1 1 125 1.1e-46 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Cimip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:Cimip3 UTSW 17 47,724,701 (GRCm39) missense probably benign 0.25
R1529:Cimip3 UTSW 17 47,724,815 (GRCm39) missense probably benign 0.11
R2256:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R2257:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R2512:Cimip3 UTSW 17 47,724,651 (GRCm39) missense probably benign
R2883:Cimip3 UTSW 17 47,747,650 (GRCm39) missense probably damaging 0.99
R3498:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3499:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3834:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3835:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3901:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3910:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3911:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R3913:Cimip3 UTSW 17 47,744,348 (GRCm39) unclassified probably benign
R4191:Cimip3 UTSW 17 47,747,562 (GRCm39) missense probably damaging 0.99
R7054:Cimip3 UTSW 17 47,748,114 (GRCm39) critical splice donor site probably null
R8008:Cimip3 UTSW 17 47,747,661 (GRCm39) missense probably damaging 0.98
Z1176:Cimip3 UTSW 17 47,724,659 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CTTTGGTACAGGTAGCCACAG -3'
(R):5'- TTAGGCAGAAGTCCTCAGGAG -3'

Sequencing Primer
(F):5'- ACAGGTGGGCTTCTGCAG -3'
(R):5'- TCCTCAGGAGCAGCGACTAAG -3'
Posted On 2015-06-20