Mutagenetix > Incidental Mutation

Incidental Mutation 'R5590:Cep19'

437486

Institutional Source

Beutler Lab

Gene Symbol

Cep19

Ensembl Gene

ENSMUSG00000035790

Gene Name

centrosomal protein 19

Synonyms

1500031L02Rik

MMRRC Submission

043143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31918618-31926875 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 31922716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042869] [ENSMUST00000096109] [ENSMUST00000115168] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000169186] [ENSMUST00000147003] [ENSMUST00000155966] [ENSMUST00000189013] [ENSMUST00000147688] [ENSMUST00000232321] [ENSMUST00000144216] [ENSMUST00000215073]

AlphaFold

Q9CQA8

Predicted Effect

probably benign
Transcript: ENSMUST00000042869

SMART Domains

Protein: ENSMUSP00000046587
Gene: ENSMUSG00000035790

Domain	Start	End	E-Value	Type
Pfam:CEP19	6	156	4.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096109

SMART Domains

Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136643

SMART Domains

Protein: ENSMUSP00000118256
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143011

Predicted Effect

probably benign
Transcript: ENSMUST00000169186

SMART Domains

Protein: ENSMUSP00000126083
Gene: ENSMUSG00000035790

Domain	Start	End	E-Value	Type
Pfam:CEP19	6	156	4.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147003

SMART Domains

Protein: ENSMUSP00000120272
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155966

SMART Domains

Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189013

SMART Domains

Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147688

SMART Domains

Protein: ENSMUSP00000121801
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PIG-X	49	105	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232321

Predicted Effect

probably benign
Transcript: ENSMUST00000144216

SMART Domains

Protein: ENSMUSP00000122511
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215073

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	T	G	4: 124,504,280 (GRCm39)	M91L	unknown	Het
A2m	C	T	6: 121,653,891 (GRCm39)	T1408M	probably damaging	Het
Abca16	C	T	7: 120,143,995 (GRCm39)	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,862,632 (GRCm39)	N279I	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,369,415 (GRCm39)	V322E	probably damaging	Het
Atp12a	A	T	14: 56,610,837 (GRCm39)	Y327F	probably benign	Het
C4b	T	C	17: 34,959,309 (GRCm39)	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,664,143 (GRCm39)	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,837,577 (GRCm39)	E426D	probably damaging	Het
Ccr3	G	A	9: 123,828,830 (GRCm39)	G55D	probably damaging	Het
Cdipt	T	A	7: 126,578,704 (GRCm39)		probably null	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,802,787 (GRCm39)	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,363 (GRCm39)	D87E	possibly damaging	Het
Ell	A	C	8: 70,992,357 (GRCm39)	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,240,466 (GRCm39)		probably benign	Het
Ets1	T	C	9: 32,640,094 (GRCm39)		probably benign	Het
Fam222b	T	A	11: 78,045,858 (GRCm39)	M473K	probably benign	Het
Fanca	T	C	8: 124,030,702 (GRCm39)		probably benign	Het
Fbrsl1	G	T	5: 110,529,484 (GRCm39)	A67D	probably damaging	Het
Fchsd1	G	A	18: 38,094,380 (GRCm39)	P622L	probably damaging	Het
Gal3st2c	T	G	1: 93,936,023 (GRCm39)		probably null	Het
Gins2	T	G	8: 121,308,486 (GRCm39)	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,762,845 (GRCm39)		probably benign	Het
Gm9979	A	T	13: 40,859,289 (GRCm39)		noncoding transcript	Het
Hspbap1	A	G	16: 35,622,033 (GRCm39)	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,123,928 (GRCm39)	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,649,267 (GRCm39)	S89C	probably damaging	Het
Il10ra	T	A	9: 45,176,924 (GRCm39)	K134*	probably null	Het
Il12rb1	G	A	8: 71,266,411 (GRCm39)	C252Y	possibly damaging	Het
Il24	A	T	1: 130,810,253 (GRCm39)	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,833,820 (GRCm39)	I92T	probably damaging	Het
Kcnh5	T	C	12: 75,023,463 (GRCm39)	D535G	probably benign	Het
Kcnq4	T	A	4: 120,573,082 (GRCm39)	I240F	probably damaging	Het
Kctd17	G	A	15: 78,321,502 (GRCm39)		probably benign	Het
Leo1	T	A	9: 75,364,423 (GRCm39)	I521N	possibly damaging	Het
Mdga1	A	G	17: 30,058,841 (GRCm39)	L722P	probably damaging	Het
Met	G	T	6: 17,548,781 (GRCm39)	V942L	probably benign	Het
Mfn1	A	T	3: 32,617,996 (GRCm39)	T110S	probably benign	Het
Mrps15	T	C	4: 125,942,488 (GRCm39)	I79T	probably benign	Het
Mycbp2	A	C	14: 103,360,791 (GRCm39)	M4497R	probably damaging	Het
Mylk	T	A	16: 34,699,722 (GRCm39)	S362T	probably benign	Het
Mypn	A	G	10: 62,955,827 (GRCm39)	F1209L	probably benign	Het
Nab2	T	C	10: 127,500,526 (GRCm39)	S189G	probably damaging	Het
Naxe	A	C	3: 87,963,840 (GRCm39)		probably null	Het
Ncf1	A	G	5: 134,252,355 (GRCm39)	V232A	probably damaging	Het
Nell1	A	G	7: 49,929,359 (GRCm39)	Y422C	probably damaging	Het
Nmnat2	G	T	1: 152,969,807 (GRCm39)	G176V	probably damaging	Het
Npr1	A	G	3: 90,362,149 (GRCm39)	S999P	probably damaging	Het
Nuak1	T	C	10: 84,211,119 (GRCm39)	D323G	probably benign	Het
Or4d10b	A	G	19: 12,036,642 (GRCm39)	V158A	probably benign	Het
Or5h23	A	G	16: 58,906,360 (GRCm39)	F162S	probably benign	Het
Or8b3b	T	A	9: 38,584,261 (GRCm39)	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,108,029 (GRCm39)	S342P	probably damaging	Het
Pag1	A	T	3: 9,764,482 (GRCm39)	Y224N	probably damaging	Het
Pald1	T	A	10: 61,179,489 (GRCm39)	H460L	probably damaging	Het
Per2	G	A	1: 91,355,578 (GRCm39)	Q727*	probably null	Het
Pex19	T	C	1: 171,960,779 (GRCm39)	V134A	probably benign	Het
Phlpp1	A	T	1: 106,320,657 (GRCm39)	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,386,998 (GRCm39)	V313D	probably damaging	Het
Prorp	T	C	12: 55,351,257 (GRCm39)	S189P	possibly damaging	Het
Pzp	A	C	6: 128,500,759 (GRCm39)	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,782,052 (GRCm39)	H9R	probably benign	Het
Rfx3	A	T	19: 27,779,780 (GRCm39)		probably null	Het
Rmnd5b	A	T	11: 51,518,789 (GRCm39)	I68N	probably damaging	Het
Senp5	T	A	16: 31,808,331 (GRCm39)	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,814,766 (GRCm39)	E442K	probably benign	Het
Slc12a3	G	A	8: 95,072,416 (GRCm39)	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,457,337 (GRCm39)	F193L	possibly damaging	Het
Slc35f1	A	T	10: 52,984,274 (GRCm39)	T345S	possibly damaging	Het
Slc9a1	G	A	4: 133,148,874 (GRCm39)	R704H	probably damaging	Het
Spta1	A	T	1: 174,003,336 (GRCm39)	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,451,425 (GRCm39)	E2741G	probably damaging	Het
Strn4	G	A	7: 16,567,799 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,132 (GRCm39)	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,682,389 (GRCm39)	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,018,414 (GRCm39)	R1278S	probably benign	Het
Tenm4	C	A	7: 96,446,608 (GRCm39)	A826E	possibly damaging	Het
Tenm4	G	T	7: 96,446,607 (GRCm39)	A826S	possibly damaging	Het
Tet2	C	T	3: 133,182,241 (GRCm39)		probably null	Het
Tfec	A	G	6: 16,834,199 (GRCm39)	L236P	probably benign	Het
Tjap1	A	G	17: 46,569,797 (GRCm39)	S388P	probably damaging	Het
Tle1	T	C	4: 72,043,208 (GRCm39)	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,467,450 (GRCm39)	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,760,703 (GRCm39)	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679 (GRCm39)		probably benign	Het
Top3b	T	A	16: 16,709,441 (GRCm39)		probably benign	Het
Tph1	T	C	7: 46,303,216 (GRCm39)	H254R	probably damaging	Het
Tpte	T	C	8: 22,841,468 (GRCm39)	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,284,749 (GRCm39)	D241V	probably damaging	Het
Trrap	A	G	5: 144,719,075 (GRCm39)	I193V	probably benign	Het
Tspear	A	T	10: 77,706,199 (GRCm39)	H323L	probably benign	Het
Ttc39a	A	T	4: 109,290,184 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,014,858 (GRCm39)	D200G	probably damaging	Het
Ugdh	C	A	5: 65,580,217 (GRCm39)		probably benign	Het
Uso1	A	G	5: 92,328,467 (GRCm39)	N355D	probably benign	Het
Vamp4	T	C	1: 162,420,248 (GRCm39)		probably null	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vps52	A	G	17: 34,180,195 (GRCm39)	T300A	probably benign	Het
Wt1	A	T	2: 104,957,629 (GRCm39)	H163L	probably damaging	Het
Xirp2	T	C	2: 67,344,379 (GRCm39)	S2207P	probably benign	Het
Xpo6	A	T	7: 125,706,250 (GRCm39)	I30N	probably damaging	Het
Zfp386	T	A	12: 116,023,347 (GRCm39)	I320K	probably benign	Het

Other mutations in Cep19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

Posted On

2016-10-26