Incidental Mutation 'R3498:Cimip3'
ID 273682
Institutional Source Beutler Lab
Gene Symbol Cimip3
Ensembl Gene ENSMUSG00000047150
Gene Name ciliary microtubule inner protein 3
Synonyms 1700001C19Rik
MMRRC Submission 040661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R3498 (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: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,350 (GRCm39) F6L probably benign Het
Aurkc A G 7: 7,003,029 (GRCm39) I175V probably damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bcat1 A G 6: 144,965,068 (GRCm39) V45A probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Ddx42 A G 11: 106,122,019 (GRCm39) E178G possibly damaging Het
Dmpk T C 7: 18,820,306 (GRCm39) I101T probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Fosb C T 7: 19,040,557 (GRCm39) R161H probably damaging Het
Gm6729 T C 10: 86,376,582 (GRCm39) noncoding transcript Het
Gnb1 T A 4: 155,639,483 (GRCm39) N237K possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Ighe G A 12: 113,234,994 (GRCm39) Q389* probably null Het
Kcnj11 T C 7: 45,749,026 (GRCm39) D23G probably damaging Het
Lats2 G T 14: 57,959,923 (GRCm39) A191E possibly damaging Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Map4 G T 9: 109,864,280 (GRCm39) V502L probably benign Het
Mgat5 A G 1: 127,312,571 (GRCm39) M237V possibly damaging Het
Mindy4 A G 6: 55,193,510 (GRCm39) R68G probably benign Het
Nell1 T A 7: 49,907,927 (GRCm39) V362E possibly damaging Het
Or5m8 T A 2: 85,822,774 (GRCm39) F204L probably benign Het
Or6c66b T A 10: 129,376,778 (GRCm39) I124N probably damaging Het
P4ha2 T C 11: 54,010,079 (GRCm39) Y279H probably benign Het
Pcid2 A G 8: 13,150,413 (GRCm39) V13A possibly damaging Het
Polr2j T C 5: 136,151,624 (GRCm39) I116T probably benign Het
Prdm9 A G 17: 15,783,207 (GRCm39) probably benign Het
Prr5 T A 15: 84,587,345 (GRCm39) V365E probably benign Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sde2 T A 1: 180,685,750 (GRCm39) C101S probably damaging Het
Sec1 T C 7: 45,328,663 (GRCm39) H128R probably damaging Het
Serpinb6a A T 13: 34,102,764 (GRCm39) M253K probably damaging Het
Slc1a4 A T 11: 20,263,973 (GRCm39) I248N probably damaging Het
Slc22a4 T G 11: 53,882,879 (GRCm39) K328N probably benign Het
Slc24a4 A T 12: 102,200,951 (GRCm39) K278N probably benign Het
Slc6a21 T A 7: 44,930,266 (GRCm39) W222R probably damaging Het
Slc7a2 A G 8: 41,365,567 (GRCm39) E466G probably benign Het
Sspo A G 6: 48,444,914 (GRCm39) T2133A possibly damaging Het
Taco1 A G 11: 105,963,364 (GRCm39) M172V probably benign Het
Tmem127 T A 2: 127,098,040 (GRCm39) H36Q probably benign Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Vac14 A G 8: 111,397,722 (GRCm39) D479G probably benign Het
Vmn1r176 T A 7: 23,534,667 (GRCm39) K162I 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
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
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'- CGGATTGTCTTTTAGAACAACCCTC -3'
(R):5'- CAGTTATCATGCAGTAGCCCC -3'

Sequencing Primer
(F):5'- ACTGTAGCTCCGTGTAGAACC -3'
(R):5'- GTAGCCCCCGTCCCTATTAAAATAG -3'
Posted On 2015-04-02