Incidental Mutation 'R3835:Cimip3'
ID 275608
Institutional Source Beutler Lab
Gene Symbol Cimip3
Ensembl Gene ENSMUSG00000047150
Gene Name ciliary microtubule inner protein 3
Synonyms 1700001C19Rik
MMRRC Submission 040890-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R3835 (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: 95.9%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,254 (GRCm39) I479T probably damaging Het
Adh6a G A 3: 138,033,275 (GRCm39) probably null Het
Anapc7 A G 5: 122,581,940 (GRCm39) T528A possibly damaging Het
Ap5b1 A G 19: 5,618,918 (GRCm39) T113A possibly damaging Het
Apaf1 G A 10: 90,895,449 (GRCm39) R439C probably benign Het
Apoa5 A T 9: 46,181,878 (GRCm39) H318L probably damaging Het
Bltp2 A G 11: 78,169,911 (GRCm39) R1545G probably benign Het
Btnl9 T G 11: 49,071,512 (GRCm39) T104P probably damaging Het
Dennd5a T C 7: 109,533,449 (GRCm39) K107R probably benign Het
Dthd1 A T 5: 63,007,128 (GRCm39) R610W probably damaging Het
Eno1 T C 4: 150,331,119 (GRCm39) S186P probably benign Het
Gipc2 C A 3: 151,833,823 (GRCm39) V153F probably damaging Het
Gpt A G 15: 76,582,783 (GRCm39) Y295C probably damaging Het
Kcnh5 T A 12: 74,945,044 (GRCm39) Q735L probably benign Het
Lrrc10 A G 10: 116,881,691 (GRCm39) N122D possibly damaging Het
Lrrc37 C A 11: 103,510,836 (GRCm39) L377F unknown Het
Meis2 T C 2: 115,752,228 (GRCm39) H301R probably damaging Het
Muc5b A T 7: 141,412,918 (GRCm39) I1955F unknown Het
Nalcn A T 14: 123,530,834 (GRCm39) probably benign Het
Nmt2 T C 2: 3,315,723 (GRCm39) probably benign Het
Nnt C T 13: 119,509,031 (GRCm39) G403R probably damaging Het
Or4a79 T G 2: 89,551,799 (GRCm39) I219L possibly damaging Het
Or4d6 T A 19: 12,086,764 (GRCm39) I49F possibly damaging Het
Or5b109 A T 19: 13,212,103 (GRCm39) D163V probably benign Het
Ovgp1 A G 3: 105,893,631 (GRCm39) E468G probably benign Het
Pax6 G A 2: 105,526,795 (GRCm39) E234K probably benign Het
Prkdc A G 16: 15,609,810 (GRCm39) E3138G probably damaging Het
Prmt6 T C 3: 110,158,121 (GRCm39) D56G possibly damaging Het
Ptprt A G 2: 161,389,307 (GRCm39) V1261A probably damaging Het
Qtrt2 A G 16: 43,701,435 (GRCm39) S42P probably damaging Het
Rab9b C T X: 135,762,259 (GRCm39) R47Q possibly damaging Het
Rpgrip1 A G 14: 52,384,710 (GRCm39) E606G probably damaging Het
Setx C T 2: 29,035,072 (GRCm39) S519L possibly damaging Het
Slc15a2 A T 16: 36,592,490 (GRCm39) C191* probably null Het
Snrk T C 9: 121,966,069 (GRCm39) probably benign Het
St6galnac1 T C 11: 116,657,109 (GRCm39) D422G probably damaging Het
Stag1 C T 9: 100,620,035 (GRCm39) T46I probably damaging Het
Tagln T C 9: 45,843,008 (GRCm39) I18V probably benign Het
Tasor2 T C 13: 3,625,292 (GRCm39) T1553A probably benign Het
Tbx18 C A 9: 87,611,689 (GRCm39) A114S probably benign Het
Ttc16 T C 2: 32,659,322 (GRCm39) D259G probably damaging Het
Vldlr A G 19: 27,212,214 (GRCm39) D76G probably damaging Het
Vmn2r24 G T 6: 123,764,412 (GRCm39) D430Y probably benign Het
Xlr3a T C X: 72,138,644 (GRCm39) E5G 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
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'- CAGTTATCATGCAGTAGCCCC -3'

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