Incidental Mutation 'IGL02576:Cimap2'
ID 299189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cimap2
Ensembl Gene ENSMUSG00000054362
Gene Name ciliary microtubule associated protein 2
Synonyms BC055111, Lexm
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02576
Quality Score
Status
Chromosome 4
Chromosomal Location 106448106-106474438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106448825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 411 (D411G)
Ref Sequence ENSEMBL: ENSMUSP00000139868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047973] [ENSMUST00000067387] [ENSMUST00000106788] [ENSMUST00000126324] [ENSMUST00000189032]
AlphaFold A2AVQ5
Predicted Effect probably benign
Transcript: ENSMUST00000047973
SMART Domains Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

DomainStartEndE-ValueType
Pfam:FAD_binding_4 71 203 2e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067387
AA Change: D411G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066732
Gene: ENSMUSG00000054362
AA Change: D411G

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 63 83 1.3e-2 PFAM
Pfam:SHIPPO-rpt 119 152 3.5e-4 PFAM
low complexity region 157 173 N/A INTRINSIC
Pfam:SHIPPO-rpt 205 240 4.3e-3 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106788
AA Change: D411G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102400
Gene: ENSMUSG00000054362
AA Change: D411G

DomainStartEndE-ValueType
internal_repeat_1 62 146 2.56e-5 PROSPERO
low complexity region 157 173 N/A INTRINSIC
internal_repeat_1 204 279 2.56e-5 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000126324
AA Change: D56G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146976
Predicted Effect possibly damaging
Transcript: ENSMUST00000189032
AA Change: D411G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139868
Gene: ENSMUSG00000054362
AA Change: D411G

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 63 83 1.3e-2 PFAM
Pfam:SHIPPO-rpt 119 152 3.5e-4 PFAM
low complexity region 157 173 N/A INTRINSIC
Pfam:SHIPPO-rpt 205 240 4.3e-3 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Heterozygous null mice show decreased CD8-positive, alpha-beta T cell number and decreased cytotoxic T cell cytolysis in response to lymphocytic choriomeningitis virus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,032,678 (GRCm39) I232M probably benign Het
Ace G A 11: 105,864,937 (GRCm39) V537M probably damaging Het
Alg1 A G 16: 5,062,393 (GRCm39) E425G possibly damaging Het
Cacng3 G A 7: 122,271,133 (GRCm39) S46N probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap65 A G 1: 74,942,617 (GRCm39) S1646P probably damaging Het
Col20a1 C T 2: 180,655,198 (GRCm39) Q1152* probably null Het
D130043K22Rik A C 13: 25,040,853 (GRCm39) T92P possibly damaging Het
Drc3 T C 11: 60,261,377 (GRCm39) M176T probably benign Het
Esyt3 T C 9: 99,197,278 (GRCm39) R851G probably benign Het
Fbxo43 A G 15: 36,152,321 (GRCm39) V496A probably benign Het
Fut4 T A 9: 14,662,701 (GRCm39) M198L probably damaging Het
Galt C T 4: 41,755,953 (GRCm39) probably benign Het
Glipr1l1 A G 10: 111,896,224 (GRCm39) K4E possibly damaging Het
Gm9945 A G 11: 53,371,178 (GRCm39) probably benign Het
Hspa12a A C 19: 58,787,842 (GRCm39) I660R possibly damaging Het
Htr3b T C 9: 48,856,804 (GRCm39) I225V possibly damaging Het
Igf2r T C 17: 12,967,650 (GRCm39) D23G possibly damaging Het
Igsf5 A G 16: 96,187,781 (GRCm39) I158V probably benign Het
Itgae A G 11: 73,009,331 (GRCm39) Y505C possibly damaging Het
Kif16b A G 2: 142,704,465 (GRCm39) probably benign Het
Kif26b T C 1: 178,743,912 (GRCm39) V1336A probably benign Het
Kmt2d A G 15: 98,762,001 (GRCm39) S450P unknown Het
Lhfpl2 G A 13: 94,310,734 (GRCm39) M1I probably null Het
Lig4 A G 8: 10,021,116 (GRCm39) I888T probably damaging Het
Msh4 G A 3: 153,573,383 (GRCm39) T563M probably damaging Het
Muc5ac C T 7: 141,370,781 (GRCm39) A3238V probably benign Het
Myo15b A G 11: 115,780,879 (GRCm39) S1246G probably null Het
Or5h25 T C 16: 58,930,134 (GRCm39) I280V probably benign Het
Pecam1 G A 11: 106,562,600 (GRCm39) T599M probably damaging Het
Phf3 G A 1: 30,869,117 (GRCm39) P644S probably benign Het
Pkd1l1 A C 11: 8,794,560 (GRCm39) F2317C possibly damaging Het
Prdm4 A G 10: 85,736,801 (GRCm39) M613T possibly damaging Het
Prim2 A T 1: 33,523,798 (GRCm39) I371N probably damaging Het
Ptprs T C 17: 56,721,958 (GRCm39) D1316G probably damaging Het
Rnf19b C T 4: 128,967,315 (GRCm39) R285* probably null Het
Secisbp2 A G 13: 51,824,894 (GRCm39) N381D possibly damaging Het
Slc28a2 T C 2: 122,288,652 (GRCm39) I586T probably damaging Het
Spef1 T C 2: 131,016,562 (GRCm39) H11R possibly damaging Het
Taar4 T C 10: 23,836,909 (GRCm39) L173S probably damaging Het
Tas2r123 T C 6: 132,824,703 (GRCm39) F200S possibly damaging Het
Tex16 T A X: 111,028,653 (GRCm39) L384Q probably benign Het
Tox2 A G 2: 163,118,100 (GRCm39) Q168R probably damaging Het
Trim5 T A 7: 103,927,624 (GRCm39) E172V probably damaging Het
Txndc11 G A 16: 10,892,881 (GRCm39) probably benign Het
Vmn1r232 T A 17: 21,134,175 (GRCm39) I142F probably benign Het
Zdhhc25 A T 15: 88,485,472 (GRCm39) H269L probably benign Het
Znrf4 T C 17: 56,819,199 (GRCm39) D36G probably damaging Het
Other mutations in Cimap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02583:Cimap2 APN 4 106,468,602 (GRCm39) splice site probably benign
IGL03329:Cimap2 APN 4 106,464,601 (GRCm39) missense possibly damaging 0.92
R0294:Cimap2 UTSW 4 106,470,361 (GRCm39) missense probably damaging 1.00
R1875:Cimap2 UTSW 4 106,470,453 (GRCm39) splice site probably benign
R2960:Cimap2 UTSW 4 106,470,615 (GRCm39) missense probably damaging 1.00
R4654:Cimap2 UTSW 4 106,467,612 (GRCm39) missense probably benign 0.03
R4836:Cimap2 UTSW 4 106,467,724 (GRCm39) critical splice acceptor site probably null
R5436:Cimap2 UTSW 4 106,467,690 (GRCm39) missense probably benign 0.00
R6086:Cimap2 UTSW 4 106,470,403 (GRCm39) missense probably damaging 1.00
R6580:Cimap2 UTSW 4 106,468,711 (GRCm39) missense possibly damaging 0.73
R6952:Cimap2 UTSW 4 106,467,596 (GRCm39) critical splice donor site probably null
R7995:Cimap2 UTSW 4 106,473,112 (GRCm39) missense probably benign 0.33
R8118:Cimap2 UTSW 4 106,470,595 (GRCm39) missense possibly damaging 0.92
R8258:Cimap2 UTSW 4 106,448,859 (GRCm39) missense probably damaging 1.00
R9260:Cimap2 UTSW 4 106,472,634 (GRCm39) missense probably benign 0.00
Z1176:Cimap2 UTSW 4 106,464,497 (GRCm39) missense probably benign 0.15
Posted On 2015-04-16