Incidental Mutation 'R4984:Cimap3'
ID 512183
Institutional Source Beutler Lab
Gene Symbol Cimap3
Ensembl Gene ENSMUSG00000010136
Gene Name ciliary microtubule associated protein 3
Synonyms pitchfork, 1700027A23Rik, Pifo
MMRRC Submission 042578-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4984 (G1)
Quality Score 221
Status Not validated
Chromosome 3
Chromosomal Location 105904273-105921962 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 105908810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066319]
AlphaFold Q9D9W1
Predicted Effect probably benign
Transcript: ENSMUST00000010280
SMART Domains Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 183 209 5.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066319
SMART Domains Protein: ENSMUSP00000069454
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 58 96 1.9e-2 PFAM
Pfam:SHIPPO-rpt 144 184 1.9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198855
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2a T C 19: 54,035,070 (GRCm39) I142T probably damaging Het
Cd109 T C 9: 78,541,959 (GRCm39) probably null Het
Cdc42bpg T A 19: 6,366,253 (GRCm39) I812N possibly damaging Het
Cftr A G 6: 18,235,198 (GRCm39) E479G possibly damaging Het
Cpb1 GTTT GTT 3: 20,324,516 (GRCm39) probably null Het
Crocc T C 4: 140,761,763 (GRCm39) E873G probably damaging Het
Dnah3 C T 7: 119,528,002 (GRCm39) V3827I probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
E230001N04Rik T C 17: 28,742,780 (GRCm39) noncoding transcript Het
Gpr89 T A 3: 96,812,512 (GRCm39) M10L probably benign Het
Kbtbd7 T C 14: 79,664,602 (GRCm39) Y145H probably damaging Het
Kcnh8 T A 17: 53,184,995 (GRCm39) Y426N probably damaging Het
Mipep A G 14: 61,025,631 (GRCm39) D129G possibly damaging Het
Muc15 C T 2: 110,561,918 (GRCm39) P118L probably damaging Het
Mug1 T C 6: 121,815,576 (GRCm39) probably benign Het
Nubp1 T A 16: 10,239,108 (GRCm39) D208E probably damaging Het
Or4a47 A T 2: 89,666,157 (GRCm39) V44D probably damaging Het
Or4k40 A T 2: 111,251,192 (GRCm39) Y35N probably damaging Het
Or4p4 A G 2: 88,242,921 (GRCm39) L27P probably damaging Het
Or52h9 T G 7: 104,202,228 (GRCm39) I34S probably benign Het
Or8g2 A G 9: 39,821,906 (GRCm39) D269G probably benign Het
Pdcd5 A C 7: 35,342,110 (GRCm39) V166G probably damaging Het
Pde4d T C 13: 109,876,998 (GRCm39) L173P probably damaging Het
Phldb2 T C 16: 45,645,996 (GRCm39) Y195C probably damaging Het
Pou4f1 T C 14: 104,703,619 (GRCm39) E271G unknown Het
Ppl T C 16: 4,905,505 (GRCm39) I1597V probably benign Het
Pramel17 G C 4: 101,692,796 (GRCm39) N401K possibly damaging Het
Sorl1 C A 9: 41,902,638 (GRCm39) D1640Y probably damaging Het
Taf4b T C 18: 14,968,873 (GRCm39) L670P probably damaging Het
Tox3 TCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTG 8: 90,975,270 (GRCm39) probably benign Het
Ttc39b A T 4: 83,160,446 (GRCm39) I377K probably benign Het
Ttll3 A G 6: 113,389,901 (GRCm39) D762G probably benign Het
Ubp1 T A 9: 113,788,460 (GRCm39) I279K probably damaging Het
Vmn2r93 T A 17: 18,533,389 (GRCm39) probably null Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zfp644 A T 5: 106,784,783 (GRCm39) L588Q possibly 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
R1802:Cimap3 UTSW 3 105,921,866 (GRCm39) missense possibly damaging 0.77
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
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
Posted On 2018-04-10