Incidental Mutation 'IGL00926:Cep19'
ID 29145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep19
Ensembl Gene ENSMUSG00000035790
Gene Name centrosomal protein 19
Synonyms 1500031L02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00926
Quality Score
Status
Chromosome 16
Chromosomal Location 31918618-31926875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31925898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 102 (E102G)
Ref Sequence ENSEMBL: ENSMUSP00000126083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042869] [ENSMUST00000115168] [ENSMUST00000169186]
AlphaFold Q9CQA8
Predicted Effect probably damaging
Transcript: ENSMUST00000042869
AA Change: E102G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046587
Gene: ENSMUSG00000035790
AA Change: E102G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115168
AA Change: E102G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110822
Gene: ENSMUSG00000035790
AA Change: E102G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125829
Predicted Effect probably damaging
Transcript: ENSMUST00000169186
AA Change: E102G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126083
Gene: ENSMUSG00000035790
AA Change: E102G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.3e-60 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit obesity, hyperphagia, glucose intolerant and insulin resistant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,352,524 (GRCm39) M53L probably benign Het
Apob T C 12: 8,065,421 (GRCm39) V4097A probably benign Het
Brip1 T C 11: 86,039,227 (GRCm39) K436E possibly damaging Het
Cadps C A 14: 12,491,795 (GRCm38) R785L probably damaging Het
Cavin2 A G 1: 51,340,036 (GRCm39) K238E probably damaging Het
Ccdc158 G A 5: 92,798,626 (GRCm39) T358I probably damaging Het
Cds1 A G 5: 101,957,767 (GRCm39) I246M probably damaging Het
Clec4a1 T A 6: 122,899,014 (GRCm39) C28S possibly damaging Het
Csmd3 T A 15: 47,574,360 (GRCm39) Y2082F possibly damaging Het
Fbn1 T A 2: 125,160,962 (GRCm39) T2193S possibly damaging Het
Gm24124 G T 19: 13,611,421 (GRCm39) probably benign Het
Gpbp1l1 T A 4: 116,444,710 (GRCm39) probably null Het
Helq T C 5: 100,912,948 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Itga3 G A 11: 94,956,712 (GRCm39) H122Y probably damaging Het
Mettl18 T A 1: 163,823,795 (GRCm39) S39T possibly damaging Het
Ndst4 A T 3: 125,355,102 (GRCm39) T337S probably benign Het
Neb A G 2: 52,160,329 (GRCm39) probably benign Het
Nrbp1 T C 5: 31,401,141 (GRCm39) S6P probably benign Het
Oprk1 A G 1: 5,669,128 (GRCm39) I191M probably damaging Het
Or2a56 A T 6: 42,933,370 (GRCm39) probably benign Het
Or51k2 A G 7: 103,596,204 (GRCm39) T144A probably benign Het
Or52z13 A G 7: 103,247,369 (GRCm39) N282S possibly damaging Het
Psap T C 10: 60,128,316 (GRCm39) V69A probably damaging Het
Scn7a C T 2: 66,514,475 (GRCm39) E1100K probably benign Het
Tmem145 A G 7: 25,014,155 (GRCm39) N423S possibly damaging Het
Tpd52 A T 3: 9,012,692 (GRCm39) probably null Het
Trmt13 G A 3: 116,383,884 (GRCm39) Q58* probably null Het
Ttn T C 2: 76,589,125 (GRCm39) E21346G probably damaging Het
Other mutations in Cep19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0616:Cep19 UTSW 16 31,922,829 (GRCm39) missense probably damaging 1.00
R1526:Cep19 UTSW 16 31,926,039 (GRCm39) missense possibly damaging 0.88
R4344:Cep19 UTSW 16 31,925,883 (GRCm39) missense probably damaging 0.99
R5590:Cep19 UTSW 16 31,922,716 (GRCm39) unclassified probably benign
R6798:Cep19 UTSW 16 31,922,867 (GRCm39) critical splice donor site probably null
R6925:Cep19 UTSW 16 31,922,760 (GRCm39) missense probably damaging 1.00
R7195:Cep19 UTSW 16 31,925,904 (GRCm39) missense probably damaging 0.99
R7223:Cep19 UTSW 16 31,922,833 (GRCm39) missense probably damaging 1.00
R9104:Cep19 UTSW 16 31,925,883 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17