Incidental Mutation 'R3834:Cimip3'
ID 275564
Institutional Source Beutler Lab
Gene Symbol Cimip3
Ensembl Gene ENSMUSG00000047150
Gene Name ciliary microtubule inner protein 3
Synonyms 1700001C19Rik
MMRRC Submission 040889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R3834 (G1)
Quality Score 217
Status Validated
Chromosome 17
Chromosomal Location 47723659-47748301 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AC to A at 47744348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000061885] [ENSMUST00000150819]
AlphaFold Q8K168
Predicted Effect probably benign
Transcript: ENSMUST00000037701
SMART Domains Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061885
SMART Domains Protein: ENSMUSP00000050873
Gene: ENSMUSG00000047150

DomainStartEndE-ValueType
low complexity region 74 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150819
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 237 N/A INTRINSIC
low complexity region 294 312 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 354 364 N/A INTRINSIC
low complexity region 384 423 N/A INTRINSIC
low complexity region 429 444 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
internal_repeat_1 628 654 6.24e-9 PROSPERO
low complexity region 656 671 N/A INTRINSIC
internal_repeat_1 688 714 6.24e-9 PROSPERO
low complexity region 853 863 N/A INTRINSIC
low complexity region 976 1016 N/A INTRINSIC
low complexity region 1147 1154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160678
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a G A 3: 138,033,275 (GRCm39) probably null Het
Bptf T C 11: 106,964,683 (GRCm39) T1389A probably benign Het
Cfap54 A G 10: 92,636,985 (GRCm39) probably benign Het
Coq5 G T 5: 115,422,635 (GRCm39) G180W probably damaging Het
Cyp2d34 A G 15: 82,500,947 (GRCm39) probably null Het
Cyp2j13 C T 4: 95,944,794 (GRCm39) probably null Het
Fam114a1 C T 5: 65,163,416 (GRCm39) T197I possibly damaging Het
Fbxo44 A G 4: 148,240,707 (GRCm39) Y227H probably damaging Het
Gm5114 T A 7: 39,058,161 (GRCm39) H486L possibly damaging Het
Grik4 T C 9: 42,540,419 (GRCm39) R254G probably benign Het
Iqcm T C 8: 76,304,380 (GRCm39) I47T possibly damaging Het
Kif20b A G 19: 34,912,428 (GRCm39) Y278C probably damaging Het
Lbhd1 G A 19: 8,861,421 (GRCm39) C43Y probably benign Het
Lrfn5 T A 12: 61,886,816 (GRCm39) D201E probably damaging Het
Map1a G A 2: 121,137,803 (GRCm39) G2635D probably damaging Het
Ms4a4a A T 19: 11,356,219 (GRCm39) M35L probably benign Het
Muc5b A T 7: 141,412,918 (GRCm39) I1955F unknown Het
Mug2 T C 6: 122,026,746 (GRCm39) probably null Het
Nav2 T A 7: 49,195,606 (GRCm39) I994N possibly damaging Het
Ngly1 T C 14: 16,290,766 (GRCm38) probably benign Het
Nr1i2 T C 16: 38,074,291 (GRCm39) probably null Het
Or51f5 A G 7: 102,424,493 (GRCm39) Y254C probably damaging Het
Or52h9 T A 7: 104,202,552 (GRCm39) V142D probably benign Het
Or5p69 A T 7: 107,967,279 (GRCm39) D194V probably damaging Het
Oxct2a C T 4: 123,216,266 (GRCm39) V372I probably benign Het
Pax6 G A 2: 105,526,795 (GRCm39) E234K probably benign Het
Pramel14 T A 4: 143,720,796 (GRCm39) K48N probably benign Het
Prkdc A G 16: 15,609,810 (GRCm39) E3138G probably damaging Het
Ptprc T A 1: 138,011,305 (GRCm39) N584I probably damaging Het
Ptprt A G 2: 161,389,307 (GRCm39) V1261A probably damaging Het
Rps20 A T 4: 3,834,610 (GRCm39) I84N probably damaging Het
Scd3 A G 19: 44,230,156 (GRCm39) Y313C probably damaging Het
Sertad2 T C 11: 20,598,482 (GRCm39) I226T probably benign Het
Slc15a2 A T 16: 36,592,490 (GRCm39) C191* probably null Het
Slco1a1 G T 6: 141,889,163 (GRCm39) Q50K possibly damaging Het
Stab2 A T 10: 86,785,776 (GRCm39) I622N possibly damaging Het
Tmc4 C T 7: 3,675,006 (GRCm39) V222M probably benign Het
Tmem145 T C 7: 25,010,786 (GRCm39) F359L probably damaging Het
Tmem238 C A 7: 4,792,078 (GRCm39) R155L possibly damaging Het
Vmn1r32 C A 6: 66,530,647 (GRCm39) C43F probably benign Het
Vmn2r104 C T 17: 20,250,183 (GRCm39) R696K probably benign 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
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
R4280:Cimip3 UTSW 17 47,724,780 (GRCm39) missense probably benign 0.02
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'- GATTGTCTTTTAGAACAACCCTCCC -3'
(R):5'- ACAGTTATCATGCAGTAGCCCC -3'

Sequencing Primer
(F):5'- ACTGTAGCTCCGTGTAGAACC -3'
(R):5'- GTAGCCCCCGTCCCTATTAAAATAG -3'
Posted On 2015-04-06