Incidental Mutation 'R7223:Cep19'
ID561977
Institutional Source Beutler Lab
Gene Symbol Cep19
Ensembl Gene ENSMUSG00000035790
Gene Namecentrosomal protein 19
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7223 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location32099800-32108069 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32104015 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 33 (I33N)
Ref Sequence ENSEMBL: ENSMUSP00000110822 (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 damaging
Transcript: ENSMUST00000042869
AA Change: I33N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046587
Gene: ENSMUSG00000035790
AA Change: I33N

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 damaging
Transcript: ENSMUST00000115168
AA Change: I33N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110822
Gene: ENSMUSG00000035790
AA Change: I33N

DomainStartEndE-ValueType
Pfam:CEP19 6 156 4.8e-56 PFAM
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 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 damaging
Transcript: ENSMUST00000169186
AA Change: I33N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126083
Gene: ENSMUSG00000035790
AA Change: I33N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,274,143 V733E probably benign Het
Adam34 A T 8: 43,652,004 N201K probably benign Het
Aldh3b2 A C 19: 3,979,592 S322R probably damaging Het
Anpep A T 7: 79,825,310 L914Q probably damaging Het
Arhgap30 T C 1: 171,407,571 F535S probably damaging Het
Baiap3 G A 17: 25,243,840 R1075C probably benign Het
Baz2a G T 10: 128,112,606 G252V probably damaging Het
Brinp3 T A 1: 146,901,074 S420T possibly damaging Het
Carmil3 T C 14: 55,496,238 F359S possibly damaging Het
Ccdc124 A T 8: 70,868,526 L190Q probably damaging Het
Ccr6 T C 17: 8,256,140 V59A probably damaging Het
Ccr8 T A 9: 120,094,617 I266N probably damaging Het
Cdh23 T A 10: 60,331,817 E1798V probably damaging Het
Cdk5rap2 T C 4: 70,235,447 N1713S probably benign Het
Cers3 A T 7: 66,783,415 Y196F probably damaging Het
Cidea T C 18: 67,366,421 I126T probably damaging Het
Copg2 A T 6: 30,812,754 Y546* probably null Het
Cul3 A T 1: 80,287,000 V261E probably benign Het
Cyp2g1 A T 7: 26,814,632 D221V probably damaging Het
Cyp8b1 G A 9: 121,915,097 H390Y probably damaging Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dnajc24 G A 2: 106,001,966 S24L possibly damaging Het
Dpysl3 T C 18: 43,438,042 S56G probably benign Het
Esp1 A G 17: 40,731,081 D88G probably benign Het
Fam171b A G 2: 83,878,230 T359A probably damaging Het
Fam186b T C 15: 99,279,837 E536G possibly damaging Het
Fbxo3 T C 2: 104,043,012 V156A possibly damaging Het
Gls2 C A 10: 128,199,194 H65Q probably benign Het
Gp2 A G 7: 119,451,498 probably null Het
Gpcpd1 T A 2: 132,534,056 K435I probably benign Het
Gpx6 T A 13: 21,317,670 probably null Het
Hps3 A T 3: 20,030,419 S202T probably benign Het
Htr1d T A 4: 136,443,501 L347H probably damaging Het
Igfals T C 17: 24,881,234 L433P probably damaging Het
Ilvbl C T 10: 78,583,696 H537Y probably benign Het
Iqgap2 A T 13: 95,628,972 M1530K probably damaging Het
Jarid2 A G 13: 44,896,322 T247A possibly damaging Het
L3hypdh C T 12: 72,074,009 V323I possibly damaging Het
Lama3 C T 18: 12,582,608 T1707I possibly damaging Het
Map6 G T 7: 99,268,025 A2S probably damaging Het
Mfap3 T A 11: 57,530,240 I349K probably benign Het
Mybl2 A G 2: 163,072,705 T248A probably benign Het
N6amt1 A G 16: 87,362,660 *151W probably null Het
Nhlrc1 A G 13: 47,014,208 V191A probably benign Het
Nkx2-5 T C 17: 26,839,620 E120G possibly damaging Het
Olfr1066 T A 2: 86,455,867 I135F possibly damaging Het
Olfr1380 T A 11: 49,564,098 M59K probably damaging Het
Olfr582 C A 7: 103,041,632 T46N possibly damaging Het
Olfr890 T C 9: 38,143,753 V201A probably benign Het
Pcdha8 T G 18: 36,993,148 L228V probably benign Het
Pcsk2 A G 2: 143,690,333 T134A possibly damaging Het
Phldb3 G A 7: 24,624,653 R484Q probably benign Het
Pipox A G 11: 77,881,186 S371P probably damaging Het
Plekhg1 T C 10: 3,873,343 S159P Het
Psme4 C T 11: 30,874,226 P1737S probably benign Het
Pygm G A 19: 6,388,863 D328N probably benign Het
Rabgef1 A T 5: 130,190,960 E88V probably benign Het
Rims2 G T 15: 39,437,032 R245L probably benign Het
Slc38a4 T C 15: 97,010,345 I172V probably damaging Het
Slc4a10 T A 2: 62,268,665 Y586N probably damaging Het
Snap91 C T 9: 86,879,557 probably benign Het
Sorcs1 C T 19: 50,190,042 V881I probably benign Het
Spef2 A T 15: 9,601,640 V1512E unknown Het
Sufu T C 19: 46,453,277 I292T possibly damaging Het
Tet1 T C 10: 62,813,671 N87D possibly damaging Het
Tmem108 T C 9: 103,499,534 T239A not run Het
Tmem121 A T 12: 113,188,494 K111* probably null Het
Tpp2 T A 1: 43,968,888 D417E probably damaging Het
Tpr G A 1: 150,439,256 E2025K possibly damaging Het
Trappc3 C T 4: 126,275,152 A145V possibly damaging Het
Ttn T C 2: 76,890,981 D6754G probably null Het
Unc13c T A 9: 73,629,191 M1627L probably benign Het
Ush2a A G 1: 188,810,217 I3327V probably benign Het
Vmn1r74 C T 7: 11,846,967 Q65* probably null Het
Wdr18 G A 10: 79,960,368 R69H probably damaging Het
Zbed5 G T 5: 129,900,438 D132Y probably damaging Het
Zfp644 A T 5: 106,637,582 Y366* probably null Het
Zfyve26 T C 12: 79,246,171 N2068S probably damaging Het
Zic2 T C 14: 122,476,091 F139S probably damaging Het
Zmynd11 T C 13: 9,710,162 Q141R probably benign Het
Zrsr1 A G 11: 22,973,388 E54G probably benign Het
Zscan10 G A 17: 23,609,482 D333N 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
R5590:Cep19 UTSW 16 32103898 unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- CAGGTCCCTCGATTTGGTTG -3'
(R):5'- CTTAGCTGTCTACATTGCTTGG -3'

Sequencing Primer
(F):5'- TGTTCTTCTTCAGGAAATTGTTGTAC -3'
(R):5'- GCAGGGTTTCCAACTTTAGCAAC -3'
Posted On2019-06-26