Incidental Mutation 'R5663:Cimip1'
ID 444181
Institutional Source Beutler Lab
Gene Symbol Cimip1
Ensembl Gene ENSMUSG00000027518
Gene Name ciliary microtubule inner protein 1
Synonyms 1700021F07Rik
MMRRC Submission 043306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5663 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 173364385-173370295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 173369690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 68 (P68L)
Ref Sequence ENSEMBL: ENSMUSP00000029023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029023]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029023
AA Change: P68L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: P68L

DomainStartEndE-ValueType
Pfam:LLC1 16 134 2.1e-51 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 T C 5: 50,156,627 (GRCm39) N368D probably benign Het
Agfg1 T A 1: 82,871,173 (GRCm39) S444R probably damaging Het
Arhgap44 A T 11: 64,915,117 (GRCm39) F384I probably damaging Het
Atp8b2 T C 3: 89,849,101 (GRCm39) N1078D probably benign Het
Bcan G A 3: 87,902,920 (GRCm39) T286I probably damaging Het
Cacna1d A G 14: 29,845,297 (GRCm39) L624P probably damaging Het
Ccn5 G A 2: 163,667,173 (GRCm39) R58Q probably damaging Het
Dnah7c C A 1: 46,574,308 (GRCm39) F994L probably damaging Het
Dpp6 A G 5: 27,254,620 (GRCm39) I12V possibly damaging Het
Edil3 A G 13: 89,190,627 (GRCm39) I101M probably damaging Het
Elapor1 T C 3: 108,399,399 (GRCm39) T64A probably benign Het
Farp2 T C 1: 93,497,735 (GRCm39) V255A probably damaging Het
Fhip1a T C 3: 85,579,740 (GRCm39) T822A probably benign Het
Fzr1 A G 10: 81,206,360 (GRCm39) S137P probably benign Het
H2-Eb2 T C 17: 34,552,382 (GRCm39) F76L possibly damaging Het
Helb A G 10: 119,941,698 (GRCm39) I330T possibly damaging Het
Il18rap T A 1: 40,570,717 (GRCm39) C220S probably damaging Het
Kdm4c T C 4: 74,317,585 (GRCm39) V966A probably damaging Het
Kdm5b T C 1: 134,558,373 (GRCm39) V1460A probably benign Het
Kif15 T A 9: 122,820,916 (GRCm39) probably null Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Lrrc37 A G 11: 103,503,949 (GRCm39) V497A probably benign Het
Masp1 T C 16: 23,271,688 (GRCm39) E621G possibly damaging Het
Mier1 T A 4: 103,007,739 (GRCm39) S285T probably damaging Het
Mroh6 A G 15: 75,760,437 (GRCm39) S46P probably benign Het
Myo1h A T 5: 114,472,155 (GRCm39) Q395L probably damaging Het
Ndufb5 T C 3: 32,801,898 (GRCm39) I86T possibly damaging Het
Nelfb T A 2: 25,093,501 (GRCm39) E417V probably benign Het
Nfkb1 T G 3: 135,309,612 (GRCm39) D494A possibly damaging Het
Nid1 G A 13: 13,647,419 (GRCm39) C395Y probably damaging Het
Nr4a3 G T 4: 48,055,931 (GRCm39) R319I probably damaging Het
Or2ag13 T A 7: 106,472,877 (GRCm39) T192S probably benign Het
Or4e1 A T 14: 52,701,052 (GRCm39) I138K probably benign Het
Or6f2 G A 7: 139,756,234 (GRCm39) C67Y probably damaging Het
Paqr5 A G 9: 61,876,144 (GRCm39) V130A probably benign Het
Phlpp2 G A 8: 110,630,976 (GRCm39) V207I probably benign Het
Pik3ca C T 3: 32,516,928 (GRCm39) T1052M probably damaging Het
Pikfyve T C 1: 65,255,187 (GRCm39) Y347H probably benign Het
Ptprz1 A G 6: 23,035,142 (GRCm39) H1964R probably damaging Het
Rassf7 C T 7: 140,797,003 (GRCm39) T72I probably damaging Het
Rfx3 A G 19: 27,771,017 (GRCm39) F603S probably damaging Het
Slc27a4 T A 2: 29,702,382 (GRCm39) V477D probably damaging Het
Slc9a3 A C 13: 74,311,831 (GRCm39) D593A probably damaging Het
Smyd1 A G 6: 71,216,705 (GRCm39) I14T probably benign Het
Sox6 T A 7: 115,149,289 (GRCm39) I404L probably benign Het
Tas2r121 G A 6: 132,677,520 (GRCm39) H151Y probably benign Het
Tgfb1 C T 7: 25,393,706 (GRCm39) T192M possibly damaging Het
Ubr4 T C 4: 139,155,894 (GRCm39) Y2240H possibly damaging Het
Whrn T A 4: 63,336,685 (GRCm39) N626Y probably damaging Het
Xrra1 T A 7: 99,535,250 (GRCm39) I185N probably damaging Het
Zfp94 G A 7: 24,002,252 (GRCm39) R397W probably 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
R4006:Cimip1 UTSW 2 173,367,880 (GRCm39) critical splice donor site probably null
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'- TAGCAGGAGGACCTCATCAAG -3'
(R):5'- GCCAATGAAGCTTAGCATGG -3'

Sequencing Primer
(F):5'- GGGCTAACTCCGCAACTCAG -3'
(R):5'- GAGAAGCCAGTCAGGTCCTCAC -3'
Posted On 2016-11-09