Incidental Mutation 'R1802:Cimap3'
ID 203197
Institutional Source Beutler Lab
Gene Symbol Cimap3
Ensembl Gene ENSMUSG00000010136
Gene Name ciliary microtubule associated protein 3
Synonyms pitchfork, 1700027A23Rik, Pifo
MMRRC Submission 039832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1802 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 105904273-105921962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105921866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 19 (Q19L)
Ref Sequence ENSEMBL: ENSMUSP00000010280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066537] [ENSMUST00000200146]
AlphaFold Q9D9W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000010280
AA Change: Q19L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136
AA Change: Q19L

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 183 209 5.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054973
SMART Domains Protein: ENSMUSP00000052345
Gene: ENSMUSG00000043873

DomainStartEndE-ValueType
Pfam:Glyco_hydro_18 1 156 5.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066537
SMART Domains Protein: ENSMUSP00000065043
Gene: ENSMUSG00000043873

DomainStartEndE-ValueType
Glyco_18 1 174 2.61e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198855
Predicted Effect probably benign
Transcript: ENSMUST00000200146
SMART Domains Protein: ENSMUSP00000142477
Gene: ENSMUSG00000043873

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 365 2.1e-133 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Heterozygous null embryos generated by tetraploid complementation display embryonic lethality with double outlet heart right ventricle, duplicated cilia and defects in cilia disassembly. A conditional allele activated in limb bub cultures doesn't interfere with cilia development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,047,305 (GRCm39) R583S probably benign Het
Ago2 A T 15: 72,993,029 (GRCm39) F492Y probably damaging Het
Ano4 T A 10: 88,816,878 (GRCm39) D610V probably damaging Het
Atp6v0d2 A G 4: 19,922,366 (GRCm39) probably null Het
Atxn7 T G 14: 14,089,419 (GRCm38) S312A probably benign Het
Azgp1 A G 5: 137,983,493 (GRCm39) Y56C probably damaging Het
Bcan A G 3: 87,900,415 (GRCm39) V606A possibly damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
Ccdc63 T C 5: 122,267,940 (GRCm39) R9G probably damaging Het
Cdyl T A 13: 36,056,619 (GRCm39) L534* probably null Het
Celf2 T C 2: 6,554,744 (GRCm39) E445G probably damaging Het
Cfap97d1 T A 11: 101,879,302 (GRCm39) Y25N possibly damaging Het
Cnot8 T C 11: 58,008,361 (GRCm39) C276R probably benign Het
Dock4 A G 12: 40,844,597 (GRCm39) I1135V possibly damaging Het
Edc3 A G 9: 57,634,598 (GRCm39) D205G probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fancl T G 11: 26,409,709 (GRCm39) S188R probably benign Het
Fbn2 T A 18: 58,186,048 (GRCm39) K1767* probably null Het
Glrb A T 3: 80,769,264 (GRCm39) H154Q probably damaging Het
Gm19965 C T 1: 116,748,633 (GRCm39) R105* probably null Het
Grhpr C A 4: 44,988,950 (GRCm39) Y202* probably null Het
Herc2 A G 7: 55,834,080 (GRCm39) E3095G probably damaging Het
Il22ra2 A T 10: 19,502,447 (GRCm39) N89Y probably damaging Het
Itgb6 T C 2: 60,483,625 (GRCm39) D261G probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kif1a T A 1: 92,993,871 (GRCm39) I360F probably damaging Het
Kmt2d T C 15: 98,760,866 (GRCm39) Q828R unknown Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mios T A 6: 8,216,385 (GRCm39) Y436* probably null Het
Mprip C T 11: 59,645,867 (GRCm39) L684F probably damaging Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Naga C T 15: 82,221,669 (GRCm39) R24Q probably benign Het
Nr2c1 G A 10: 93,999,648 (GRCm39) V103M possibly damaging Het
Oca2 A G 7: 55,904,728 (GRCm39) S65G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or52ab7 A G 7: 102,977,854 (GRCm39) I54V probably benign Het
Phyhipl A T 10: 70,434,855 (GRCm39) I28N probably benign Het
Pik3cb C A 9: 98,983,342 (GRCm39) E89* probably null Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Ppm1a T A 12: 72,840,481 (GRCm39) probably null Het
Relt T C 7: 100,499,401 (GRCm39) I173V probably damaging Het
Rfx7 T A 9: 72,526,919 (GRCm39) S1370T possibly damaging Het
Rps7 G A 12: 28,684,258 (GRCm39) R81C probably benign Het
Saa3 T C 7: 46,361,550 (GRCm39) *123W probably null Het
Serpina3b C A 12: 104,104,896 (GRCm39) H357Q probably damaging Het
Slc9c1 T A 16: 45,378,644 (GRCm39) N493K probably benign Het
Spata31 T C 13: 65,070,197 (GRCm39) Y782H probably benign Het
Tfap2a T C 13: 40,878,646 (GRCm39) D166G probably damaging Het
Thada A T 17: 84,771,835 (GRCm39) M9K probably benign Het
Tmem269 A T 4: 119,068,070 (GRCm39) probably null Het
Tnxb C A 17: 34,922,863 (GRCm39) P2482Q probably damaging Het
Vit T C 17: 78,912,940 (GRCm39) V291A possibly damaging Het
Zfp930 G T 8: 69,679,046 (GRCm39) A18S possibly damaging Het
Zup1 A T 10: 33,819,714 (GRCm39) V200D probably damaging Het
Other mutations in Cimap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Cimap3 APN 3 105,921,824 (GRCm39) missense probably benign 0.29
IGL01615:Cimap3 APN 3 105,904,523 (GRCm39) splice site probably null
IGL02451:Cimap3 APN 3 105,921,820 (GRCm39) missense probably benign 0.09
R0139:Cimap3 UTSW 3 105,906,886 (GRCm39) missense possibly damaging 0.46
R1832:Cimap3 UTSW 3 105,921,912 (GRCm39) missense possibly damaging 0.53
R4404:Cimap3 UTSW 3 105,908,684 (GRCm39) missense probably benign 0.25
R4681:Cimap3 UTSW 3 105,905,701 (GRCm39) missense probably damaging 1.00
R4984:Cimap3 UTSW 3 105,908,810 (GRCm39) start gained probably benign
R5245:Cimap3 UTSW 3 105,921,770 (GRCm39) missense possibly damaging 0.92
R5308:Cimap3 UTSW 3 105,908,419 (GRCm39) missense probably benign 0.02
R6015:Cimap3 UTSW 3 105,906,937 (GRCm39) missense possibly damaging 0.47
R7430:Cimap3 UTSW 3 105,921,834 (GRCm39) missense probably benign
R8253:Cimap3 UTSW 3 105,905,683 (GRCm39) missense probably benign
R9201:Cimap3 UTSW 3 105,906,921 (GRCm39) missense probably damaging 1.00
Z1177:Cimap3 UTSW 3 105,906,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACATGAGCTCTATCCTGCC -3'
(R):5'- ATACCACAGTGCTGCTTTGC -3'

Sequencing Primer
(F):5'- TACCAGGAAGGGGGTAGTTTCC -3'
(R):5'- TGCTTTGCAGAAAACCATGTC -3'
Posted On 2014-06-23