Incidental Mutation 'R4006:Cimip1'
ID 311460
Institutional Source Beutler Lab
Gene Symbol Cimip1
Ensembl Gene ENSMUSG00000027518
Gene Name ciliary microtubule inner protein 1
Synonyms 1700021F07Rik
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 173364385-173370295 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 173367880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029023]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000029023
SMART Domains Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518

DomainStartEndE-ValueType
Pfam:LLC1 16 134 2.1e-51 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Cimip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02375:Cimip1 APN 2 173,364,496 (GRCm39) missense probably benign 0.34
R0376:Cimip1 UTSW 2 173,370,120 (GRCm39) missense probably benign 0.00
R0925:Cimip1 UTSW 2 173,367,867 (GRCm39) missense probably benign 0.01
R1102:Cimip1 UTSW 2 173,364,516 (GRCm39) missense probably damaging 1.00
R1319:Cimip1 UTSW 2 173,369,716 (GRCm39) missense probably damaging 0.98
R3430:Cimip1 UTSW 2 173,370,066 (GRCm39) missense possibly damaging 0.60
R5663:Cimip1 UTSW 2 173,369,690 (GRCm39) missense probably damaging 1.00
R6347:Cimip1 UTSW 2 173,369,708 (GRCm39) missense possibly damaging 0.77
R6362:Cimip1 UTSW 2 173,369,967 (GRCm39) splice site probably null
R6452:Cimip1 UTSW 2 173,369,700 (GRCm39) missense probably benign 0.15
R6453:Cimip1 UTSW 2 173,370,052 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GTTAAGAGGCTCGGTCAAGG -3'
(R):5'- CCATGCAGGTACCAGAAGAG -3'

Sequencing Primer
(F):5'- AGATCTGCTAGCCGGTCAGTG -3'
(R):5'- CATGCAGGTACCAGAAGAGGACATC -3'
Posted On 2015-04-29