Incidental Mutation 'R7195:Cep19'
ID 559887
Institutional Source Beutler Lab
Gene Symbol Cep19
Ensembl Gene ENSMUSG00000035790
Gene Name centrosomal protein 19
Synonyms 1500031L02Rik
MMRRC Submission 045336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7195 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31918618-31926875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31925904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000110822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042869] [ENSMUST00000115168] [ENSMUST00000169186]
AlphaFold Q9CQA8
Predicted Effect probably damaging
Transcript: ENSMUST00000042869
AA Change: D104G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046587
Gene: ENSMUSG00000035790
AA Change: D104G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115168
AA Change: D104G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110822
Gene: ENSMUSG00000035790
AA Change: D104G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169186
AA Change: D104G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126083
Gene: ENSMUSG00000035790
AA Change: D104G

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.3e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T C 11: 58,179,242 (GRCm39) probably null Het
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Actl11 A T 9: 107,806,069 (GRCm39) K131* probably null Het
Adam39 A T 8: 41,277,812 (GRCm39) R68* probably null Het
Akap7 A T 10: 25,147,405 (GRCm39) N108K probably damaging Het
Arhgef10l C A 4: 140,338,721 (GRCm39) A14S probably benign Het
Ccdc141 T G 2: 76,879,927 (GRCm39) N632T probably benign Het
Ccm2 T C 11: 6,546,302 (GRCm39) S435P probably damaging Het
Cd36 A G 5: 18,019,187 (GRCm39) L178P probably damaging Het
Cd7 T C 11: 120,929,075 (GRCm39) I59V probably benign Het
Cds2 T A 2: 132,135,204 (GRCm39) S32T probably benign Het
Col1a2 C T 6: 4,510,753 (GRCm39) P68S unknown Het
Col20a1 A G 2: 180,649,024 (GRCm39) H1011R probably damaging Het
Cspg4b A T 13: 113,504,463 (GRCm39) D1864V Het
D7Ertd443e A G 7: 133,896,851 (GRCm39) V513A probably damaging Het
Egfr C T 11: 16,818,162 (GRCm39) P228L probably damaging Het
Fam243 C T 16: 92,118,037 (GRCm39) V84M probably damaging Het
Fam78b A G 1: 166,906,131 (GRCm39) R97G probably damaging Het
Flt1 C T 5: 147,540,386 (GRCm39) V768M probably damaging Het
Gdap1l1 A T 2: 163,288,050 (GRCm39) N96Y probably damaging Het
Gm7168 T A 17: 14,169,622 (GRCm39) Y330N probably benign Het
Hnrnpul1 T C 7: 25,424,203 (GRCm39) N683S unknown Het
Ice2 C T 9: 69,335,782 (GRCm39) P922S possibly damaging Het
Iglv2 A G 16: 19,079,260 (GRCm39) V81A not run Het
Irs1 A G 1: 82,265,177 (GRCm39) I1013T probably benign Het
Itih4 T C 14: 30,621,432 (GRCm39) S832P probably damaging Het
Klhl1 A T 14: 96,517,513 (GRCm39) Y388N probably benign Het
Lrrc37a G A 11: 103,348,601 (GRCm39) S2698L unknown Het
Map4k4 T C 1: 40,058,829 (GRCm39) Y1008H possibly damaging Het
Mdn1 G T 4: 32,701,823 (GRCm39) G1519W probably damaging Het
Mga T A 2: 119,747,809 (GRCm39) D653E probably damaging Het
Npas1 T C 7: 16,208,733 (GRCm39) E48G probably damaging Het
Nup188 G A 2: 30,231,842 (GRCm39) probably null Het
Or1p1b G T 11: 74,130,394 (GRCm39) M1I probably null Het
Or3a4 T A 11: 73,945,223 (GRCm39) M121L probably damaging Het
Or4c110 G A 2: 88,832,075 (GRCm39) L186F Het
Or51a39 A G 7: 102,362,873 (GRCm39) V249A possibly damaging Het
Or55b4 A T 7: 102,133,574 (GRCm39) V251D probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Oxct1 T C 15: 4,158,383 (GRCm39) V439A probably damaging Het
Pcdhb22 G T 18: 37,652,341 (GRCm39) G13W probably damaging Het
Pex11g A G 8: 3,509,237 (GRCm39) V230A probably benign Het
Pop1 C T 15: 34,510,525 (GRCm39) S439L probably damaging Het
Ptpn9 T A 9: 56,929,533 (GRCm39) H83Q probably benign Het
Qrfp C T 2: 31,698,704 (GRCm39) R76H probably benign Het
Slc30a3 A G 5: 31,246,139 (GRCm39) V197A probably benign Het
Slc8a3 T C 12: 81,361,047 (GRCm39) N591D possibly damaging Het
Sp4 G T 12: 118,263,807 (GRCm39) Q80K possibly damaging Het
Spock1 C T 13: 58,055,316 (GRCm39) G29D possibly damaging Het
Sprr1a G T 3: 92,391,674 (GRCm39) P109Q probably damaging Het
Suz12 T A 11: 79,904,309 (GRCm39) F239L probably damaging Het
Tbx3 A G 5: 119,813,648 (GRCm39) Y248C probably damaging Het
Trabd2b T C 4: 114,266,637 (GRCm39) L217P probably damaging Het
Ubxn11 A C 4: 133,853,726 (GRCm39) I398L possibly damaging Het
Vmn1r173 T A 7: 23,401,884 (GRCm39) S40T probably damaging Het
Vmn2r2 T C 3: 64,023,900 (GRCm39) S894G probably benign Het
Vmn2r65 A G 7: 84,592,347 (GRCm39) probably null Het
Vps13c G A 9: 67,853,107 (GRCm39) G2400D possibly damaging Het
Vps8 T C 16: 21,275,032 (GRCm39) Y197H probably damaging Het
Wdr91 T C 6: 34,866,209 (GRCm39) N486D possibly damaging Het
Wwp1 A G 4: 19,627,908 (GRCm39) I695T possibly damaging Het
Zc3hc1 T C 6: 30,382,547 (GRCm39) D133G probably benign Het
Zcchc14 T C 8: 122,335,200 (GRCm39) I307V unknown Het
Zfp933 G A 4: 147,910,636 (GRCm39) T320I probably benign Het
Other mutations in Cep19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cep19 APN 16 31,925,898 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CTAGATTGCACCAGAGCTGC -3'
(R):5'- GATCTTTGTTCTCTGAGGAAACGTG -3'

Sequencing Primer
(F):5'- TGCGGAACAGTTAAAGAATAACCC -3'
(R):5'- AAACGTGGAGCGCTTCCTC -3'
Posted On 2019-06-26