Incidental Mutation 'R3736:Cimip2c'
ID 270112
Institutional Source Beutler Lab
Gene Symbol Cimip2c
Ensembl Gene ENSMUSG00000029182
Gene Name ciliary microtubule inner protein 2C
Synonyms Fam166c, 1700001C02Rik
MMRRC Submission 040723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3736 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30623395-30641433 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30639442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 123 (Y123F)
Ref Sequence ENSEMBL: ENSMUSP00000031078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031078] [ENSMUST00000065486] [ENSMUST00000114743] [ENSMUST00000127815] [ENSMUST00000199129]
AlphaFold Q9DAS2
Predicted Effect probably benign
Transcript: ENSMUST00000031078
AA Change: Y123F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031078
Gene: ENSMUSG00000029182
AA Change: Y123F

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 2.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065486
SMART Domains Protein: ENSMUSP00000066222
Gene: ENSMUSG00000053194

DomainStartEndE-ValueType
EFh 101 129 6.31e-1 SMART
EFh 143 171 2.22e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000114743
AA Change: I138F
SMART Domains Protein: ENSMUSP00000110391
Gene: ENSMUSG00000029182
AA Change: I138F

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 1e-26 PFAM
low complexity region 125 137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127815
SMART Domains Protein: ENSMUSP00000142635
Gene: ENSMUSG00000029182

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 5.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199129
SMART Domains Protein: ENSMUSP00000142583
Gene: ENSMUSG00000029182

DomainStartEndE-ValueType
Pfam:DUF2475 19 84 3.7e-23 PFAM
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,273,996 (GRCm39) noncoding transcript Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adgrf2 T C 17: 43,021,903 (GRCm39) E307G probably benign Het
Ang2 G A 14: 51,433,113 (GRCm39) R90* probably null Het
Ankrd11 A T 8: 123,618,524 (GRCm39) V1776D probably damaging Het
Atp12a G A 14: 56,611,884 (GRCm39) V353I possibly damaging Het
Bbs7 A G 3: 36,661,819 (GRCm39) Y127H possibly damaging Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Ccdc162 T C 10: 41,465,564 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Clcn3 T A 8: 61,436,686 (GRCm39) probably benign Het
Ctps1 T C 4: 120,400,943 (GRCm39) T459A probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Evi5 A T 5: 107,966,849 (GRCm39) V224D probably damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Irag1 A G 7: 110,523,170 (GRCm39) V297A probably benign Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,456,171 (GRCm39) V203A probably benign Het
Lef1 C T 3: 130,984,715 (GRCm39) P160S possibly damaging Het
Lyn G T 4: 3,745,330 (GRCm39) W78C probably damaging Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Morc3 T A 16: 93,671,700 (GRCm39) V910E probably damaging Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nup210l A G 3: 90,027,320 (GRCm39) Y234C probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or5p76 A G 7: 108,122,626 (GRCm39) V177A possibly damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Pde4dip A T 3: 97,631,427 (GRCm39) F1161I probably damaging Het
Poc5 A G 13: 96,533,324 (GRCm39) S151G probably damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Shtn1 A T 19: 59,010,700 (GRCm39) S256T probably benign Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tas2r134 C A 2: 51,517,786 (GRCm39) N88K probably damaging Het
Tbc1d32 A G 10: 56,005,189 (GRCm39) Y815H probably damaging Het
Tnrc6b G C 15: 80,773,364 (GRCm39) probably benign Het
Vti1a T A 19: 55,369,364 (GRCm39) probably null Het
Zfp273 T A 13: 67,973,626 (GRCm39) C251* probably null Het
Zfp683 C A 4: 133,784,742 (GRCm39) Q330K probably benign Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Zscan4d T C 7: 10,896,803 (GRCm39) N189S probably benign Het
Other mutations in Cimip2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1284:Cimip2c UTSW 5 30,637,851 (GRCm39) missense probably damaging 1.00
R1285:Cimip2c UTSW 5 30,637,851 (GRCm39) missense probably damaging 1.00
R1286:Cimip2c UTSW 5 30,637,851 (GRCm39) missense probably damaging 1.00
R1287:Cimip2c UTSW 5 30,637,851 (GRCm39) missense probably damaging 1.00
R1699:Cimip2c UTSW 5 30,641,210 (GRCm39) critical splice acceptor site probably null
R2109:Cimip2c UTSW 5 30,637,851 (GRCm39) missense probably damaging 1.00
R3735:Cimip2c UTSW 5 30,639,442 (GRCm39) missense probably benign 0.03
R7571:Cimip2c UTSW 5 30,639,502 (GRCm39) missense possibly damaging 0.93
R9522:Cimip2c UTSW 5 30,623,467 (GRCm39) missense probably damaging 1.00
R9631:Cimip2c UTSW 5 30,639,529 (GRCm39) missense
R9715:Cimip2c UTSW 5 30,641,261 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTTACTCTCTGCATCAAAACTGCTG -3'
(R):5'- GCACCACTGGCTGTGTTAAC -3'

Sequencing Primer
(F):5'- CTGCATCAAAACTGCTGTGTGATG -3'
(R):5'- TTCTCAGGGTCATGGCTCCAG -3'
Posted On 2015-03-18