Incidental Mutation 'R5590:Cep19'
ID437486
Institutional Source Beutler Lab
Gene Symbol Cep19
Ensembl Gene ENSMUSG00000035790
Gene Namecentrosomal protein 19
Synonyms
MMRRC Submission 043143-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5590 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location32099800-32108069 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 32103898 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042869] [ENSMUST00000096109] [ENSMUST00000115168] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000144216] [ENSMUST00000147003] [ENSMUST00000147688] [ENSMUST00000155966] [ENSMUST00000169186] [ENSMUST00000189013] [ENSMUST00000215073] [ENSMUST00000232321]
Predicted Effect probably benign
Transcript: ENSMUST00000042869
SMART Domains Protein: ENSMUSP00000046587
Gene: ENSMUSG00000035790

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096109
SMART Domains Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 49 249 3.24e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115168
SMART Domains Protein: ENSMUSP00000110822
Gene: ENSMUSG00000035790

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125829
Predicted Effect probably benign
Transcript: ENSMUST00000133584
SMART Domains Protein: ENSMUSP00000119754
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136643
SMART Domains Protein: ENSMUSP00000118256
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143011
Predicted Effect probably benign
Transcript: ENSMUST00000144216
SMART Domains Protein: ENSMUSP00000122511
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147003
SMART Domains Protein: ENSMUSP00000120272
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147688
SMART Domains Protein: ENSMUSP00000121801
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PIG-X 49 105 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155966
SMART Domains Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169186
SMART Domains Protein: ENSMUSP00000126083
Gene: ENSMUSG00000035790

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189013
SMART Domains Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PIG-X 47 247 3.24e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215073
Predicted Effect probably benign
Transcript: ENSMUST00000232321
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T C 12: 55,304,472 S189P possibly damaging Het
3100002H09Rik T G 4: 124,610,487 M91L unknown Het
A2m C T 6: 121,676,932 T1408M probably damaging Het
Abca16 C T 7: 120,544,772 T1671M probably damaging Het
Adamts8 A T 9: 30,951,336 N279I probably damaging Het
Adgre1 T A 17: 57,445,034 I594N probably damaging Het
Aldh4a1 T A 4: 139,642,104 V322E probably damaging Het
Atp12a A T 14: 56,373,380 Y327F probably benign Het
C4b T C 17: 34,740,335 T422A probably damaging Het
Cacna1c A T 6: 118,687,182 S668T probably damaging Het
Cchcr1 A T 17: 35,526,680 E426D probably damaging Het
Ccr3 G A 9: 124,028,793 G55D probably damaging Het
Cdipt T A 7: 126,979,532 probably null Het
Cts6 T A 13: 61,201,812 M56L probably benign Het
Cyp3a11 C A 5: 145,865,977 M235I probably benign Het
Dnajc21 A T 15: 10,462,277 D87E possibly damaging Het
Ell A C 8: 70,539,707 M1L possibly damaging Het
Esyt3 T C 9: 99,358,413 probably benign Het
Ets1 T C 9: 32,728,798 probably benign Het
Fam222b T A 11: 78,155,032 M473K probably benign Het
Fanca T C 8: 123,303,963 probably benign Het
Fbrsl1 G T 5: 110,381,618 A67D probably damaging Het
Fchsd1 G A 18: 37,961,327 P622L probably damaging Het
Gal3st2c T G 1: 94,008,301 probably null Het
Gins2 T G 8: 120,581,747 H166P possibly damaging Het
Gm10118 A T 10: 63,927,066 probably benign Het
Gm9979 A T 13: 40,705,813 noncoding transcript Het
Hspbap1 A G 16: 35,801,663 Y126C probably damaging Het
Hspd1 A T 1: 55,084,769 I64N probably damaging Het
Igkv3-4 A T 6: 70,672,283 S89C probably damaging Het
Il10ra T A 9: 45,265,626 K134* probably null Het
Il12rb1 G A 8: 70,813,767 C252Y possibly damaging Het
Il24 A T 1: 130,882,516 V201E possibly damaging Het
Inpp1 A G 1: 52,794,661 I92T probably damaging Het
Kcnh5 T C 12: 74,976,689 D535G probably benign Het
Kcnq4 T A 4: 120,715,885 I240F probably damaging Het
Kctd17 G A 15: 78,437,302 probably benign Het
Leo1 T A 9: 75,457,141 I521N possibly damaging Het
Mdga1 A G 17: 29,839,867 L722P probably damaging Het
Met G T 6: 17,548,782 V942L probably benign Het
Mfn1 A T 3: 32,563,847 T110S probably benign Het
Mrps15 T C 4: 126,048,695 I79T probably benign Het
Mycbp2 A C 14: 103,123,355 M4497R probably damaging Het
Mylk T A 16: 34,879,352 S362T probably benign Het
Mypn A G 10: 63,120,048 F1209L probably benign Het
Nab2 T C 10: 127,664,657 S189G probably damaging Het
Naxe A C 3: 88,056,533 probably null Het
Ncf1 A G 5: 134,223,501 V232A probably damaging Het
Nell1 A G 7: 50,279,611 Y422C probably damaging Het
Nmnat2 G T 1: 153,094,061 G176V probably damaging Het
Npr1 A G 3: 90,454,842 S999P probably damaging Het
Nuak1 T C 10: 84,375,255 D323G probably benign Het
Olfr1424 A G 19: 12,059,278 V158A probably benign Het
Olfr191 A G 16: 59,085,997 F162S probably benign Het
Olfr918 T A 9: 38,672,965 T160S probably damaging Het
Osbpl8 T C 10: 111,272,168 S342P probably damaging Het
Pag1 A T 3: 9,699,422 Y224N probably damaging Het
Pald1 T A 10: 61,343,710 H460L probably damaging Het
Per2 G A 1: 91,427,856 Q727* probably null Het
Pex19 T C 1: 172,133,212 V134A probably benign Het
Phlpp1 A T 1: 106,392,927 I1551F possibly damaging Het
Ppef2 A T 5: 92,239,139 V313D probably damaging Het
Pzp A C 6: 128,523,796 F153C probably damaging Het
Rasl11a A G 5: 146,845,242 H9R probably benign Het
Rfx3 A T 19: 27,802,380 probably null Het
Rmnd5b A T 11: 51,627,962 I68N probably damaging Het
Senp5 T A 16: 31,989,513 S281C probably damaging Het
Sh3rf1 G A 8: 61,361,732 E442K probably benign Het
Slc12a3 G A 8: 94,345,788 V645M probably damaging Het
Slc22a16 T C 10: 40,581,341 F193L possibly damaging Het
Slc35f1 A T 10: 53,108,178 T345S possibly damaging Het
Slc9a1 G A 4: 133,421,563 R704H probably damaging Het
Spta1 A T 1: 174,175,770 Y89F possibly damaging Het
Sspo A G 6: 48,474,491 E2741G probably damaging Het
Strn4 G A 7: 16,833,874 probably null Het
Tanc2 A G 11: 105,923,306 T1859A probably damaging Het
Tbc1d14 A T 5: 36,525,045 Y3N probably damaging Het
Tdrd9 C A 12: 112,051,980 R1278S probably benign Het
Tenm4 G T 7: 96,797,400 A826S possibly damaging Het
Tenm4 C A 7: 96,797,401 A826E possibly damaging Het
Tet2 C T 3: 133,476,480 probably null Het
Tfec A G 6: 16,834,200 L236P probably benign Het
Tjap1 A G 17: 46,258,871 S388P probably damaging Het
Tle1 T C 4: 72,124,971 T554A possibly damaging Het
Tmem17 G A 11: 22,517,450 V83I probably benign Het
Tnrc6b C T 15: 80,876,502 H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 probably benign Het
Top3b T A 16: 16,891,577 probably benign Het
Tph1 T C 7: 46,653,792 H254R probably damaging Het
Tpte T C 8: 22,351,452 Y487H probably damaging Het
Trappc13 T A 13: 104,148,241 D241V probably damaging Het
Trrap A G 5: 144,782,265 I193V probably benign Het
Tspear A T 10: 77,870,365 H323L probably benign Het
Ttc39a A T 4: 109,432,987 probably null Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Tubg1 A G 11: 101,124,032 D200G probably damaging Het
Ugdh C A 5: 65,422,874 probably benign Het
Uso1 A G 5: 92,180,608 N355D probably benign Het
Vamp4 T C 1: 162,592,679 probably null Het
Vmn2r5 T C 3: 64,504,076 D357G probably damaging Het
Vps52 A G 17: 33,961,221 T300A probably benign Het
Wt1 A T 2: 105,127,284 H163L probably damaging Het
Xirp2 T C 2: 67,514,035 S2207P probably benign Het
Xpo6 A T 7: 126,107,078 I30N probably damaging Het
Zfp386 T A 12: 116,059,727 I320K probably benign Het
Other mutations in Cep19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cep19 APN 16 32107080 missense probably damaging 0.98
R0616:Cep19 UTSW 16 32104011 missense probably damaging 1.00
R1526:Cep19 UTSW 16 32107221 missense possibly damaging 0.88
R4344:Cep19 UTSW 16 32107065 missense probably damaging 0.99
R6798:Cep19 UTSW 16 32104049 critical splice donor site probably null
R6925:Cep19 UTSW 16 32103942 missense probably damaging 1.00
R7195:Cep19 UTSW 16 32107086 missense probably damaging 0.99
R7223:Cep19 UTSW 16 32104015 missense probably damaging 1.00
Predicted Primers
Posted On2016-10-26