Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Cntrl'

202780

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

6720467O09Rik, Cep110, IB3/5, Ma2a8, b2b1468Clo, Cep1

MMRRC Submission

039817-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R1786 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

35109492-35178822 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGAG to CAG at 35122806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028235] [ENSMUST00000028237] [ENSMUST00000113032] [ENSMUST00000156933]

AlphaFold

A2AL36

Predicted Effect

probably null
Transcript: ENSMUST00000028235

SMART Domains

Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
LRR	146	167	2.54e1	SMART
LRR	168	190	3.24e0	SMART
LRR	192	214	7.16e0	SMART
Blast:LRR	217	239	7e-6	BLAST
low complexity region	275	292	N/A	INTRINSIC
coiled coil region	437	540	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028237

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
LRR	146	167	2.54e1	SMART
LRR	168	190	3.24e0	SMART
LRR	192	214	7.16e0	SMART
Blast:LRR	217	239	8e-6	BLAST
low complexity region	275	292	N/A	INTRINSIC
coiled coil region	437	800	N/A	INTRINSIC
coiled coil region	858	971	N/A	INTRINSIC
low complexity region	975	995	N/A	INTRINSIC
coiled coil region	998	1102	N/A	INTRINSIC
internal_repeat_1	1119	1132	1.95e-5	PROSPERO
low complexity region	1153	1161	N/A	INTRINSIC
low complexity region	1268	1301	N/A	INTRINSIC
coiled coil region	1320	1629	N/A	INTRINSIC
coiled coil region	1661	2155	N/A	INTRINSIC
low complexity region	2193	2208	N/A	INTRINSIC
internal_repeat_1	2252	2265	1.95e-5	PROSPERO
low complexity region	2289	2307	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113032

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	20	53	N/A	INTRINSIC
coiled coil region	72	381	N/A	INTRINSIC
coiled coil region	413	907	N/A	INTRINSIC
low complexity region	945	960	N/A	INTRINSIC
coiled coil region	989	1011	N/A	INTRINSIC
low complexity region	1041	1059	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123884

SMART Domains

Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	37	400	N/A	INTRINSIC
coiled coil region	458	571	N/A	INTRINSIC
low complexity region	576	596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156933

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
LRR	146	167	2.54e1	SMART
LRR	168	190	3.24e0	SMART
LRR	192	214	7.16e0	SMART
Blast:LRR	217	239	7e-6	BLAST
low complexity region	275	292	N/A	INTRINSIC
coiled coil region	437	800	N/A	INTRINSIC
coiled coil region	858	971	N/A	INTRINSIC
low complexity region	975	995	N/A	INTRINSIC
coiled coil region	998	1102	N/A	INTRINSIC
internal_repeat_1	1119	1132	1.65e-5	PROSPERO
low complexity region	1153	1161	N/A	INTRINSIC
low complexity region	1268	1301	N/A	INTRINSIC
coiled coil region	1320	1629	N/A	INTRINSIC
coiled coil region	1661	2155	N/A	INTRINSIC
low complexity region	2193	2208	N/A	INTRINSIC
internal_repeat_1	2252	2265	1.65e-5	PROSPERO
low complexity region	2289	2307	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Cntrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cntrl	APN	2	35137814	splice site	probably benign
IGL00478:Cntrl	APN	2	35160601	missense	probably damaging	0.98
IGL01460:Cntrl	APN	2	35165844	missense	probably benign	0.04
IGL01556:Cntrl	APN	2	35173059	missense	probably benign	0.19
IGL02155:Cntrl	APN	2	35160238	splice site	probably benign
IGL02419:Cntrl	APN	2	35134043	missense	probably damaging	0.97
PIT4480001:Cntrl	UTSW	2	35155428	missense	probably damaging	0.96
R0179:Cntrl	UTSW	2	35167859	missense	probably benign	0.00
R0276:Cntrl	UTSW	2	35151732	missense	possibly damaging	0.62
R0471:Cntrl	UTSW	2	35127380	missense	probably benign	0.41
R0755:Cntrl	UTSW	2	35145139	missense	probably damaging	1.00
R0763:Cntrl	UTSW	2	35171066	missense	probably benign
R0781:Cntrl	UTSW	2	35160627	missense	possibly damaging	0.66
R0791:Cntrl	UTSW	2	35155279	missense	possibly damaging	0.83
R0792:Cntrl	UTSW	2	35155279	missense	possibly damaging	0.83
R0801:Cntrl	UTSW	2	35175095	splice site	probably benign
R1067:Cntrl	UTSW	2	35149022	unclassified	probably benign
R1110:Cntrl	UTSW	2	35160627	missense	possibly damaging	0.66
R1117:Cntrl	UTSW	2	35127973	missense	probably damaging	1.00
R1457:Cntrl	UTSW	2	35122756	missense	probably benign	0.00
R1472:Cntrl	UTSW	2	35169317	critical splice donor site	probably null
R1522:Cntrl	UTSW	2	35155279	missense	possibly damaging	0.83
R1702:Cntrl	UTSW	2	35171836	critical splice acceptor site	probably null
R1762:Cntrl	UTSW	2	35122806	frame shift	probably null
R1785:Cntrl	UTSW	2	35122806	frame shift	probably null
R1812:Cntrl	UTSW	2	35149469	missense	probably damaging	0.97
R1854:Cntrl	UTSW	2	35122684	missense	probably damaging	1.00
R1863:Cntrl	UTSW	2	35118119	missense	possibly damaging	0.93
R1868:Cntrl	UTSW	2	35129815	missense	probably benign	0.03
R1914:Cntrl	UTSW	2	35162861	missense	probably benign	0.00
R1915:Cntrl	UTSW	2	35162861	missense	probably benign	0.00
R2049:Cntrl	UTSW	2	35122806	frame shift	probably null
R2118:Cntrl	UTSW	2	35161965	missense	probably benign	0.31
R2140:Cntrl	UTSW	2	35122806	frame shift	probably null
R2142:Cntrl	UTSW	2	35122806	frame shift	probably null
R2203:Cntrl	UTSW	2	35143737	missense	possibly damaging	0.84
R2300:Cntrl	UTSW	2	35127513	missense	probably benign	0.00
R2349:Cntrl	UTSW	2	35176251	missense	probably benign	0.18
R2374:Cntrl	UTSW	2	35153276	missense	possibly damaging	0.46
R3429:Cntrl	UTSW	2	35145100	missense	probably damaging	1.00
R3890:Cntrl	UTSW	2	35170480	missense	probably benign	0.02
R3911:Cntrl	UTSW	2	35120049	missense	probably damaging	1.00
R3922:Cntrl	UTSW	2	35129739	missense	probably damaging	0.98
R4081:Cntrl	UTSW	2	35161926	splice site	probably benign
R4081:Cntrl	UTSW	2	35175125	missense	probably damaging	1.00
R4516:Cntrl	UTSW	2	35127981	missense	probably benign	0.00
R4518:Cntrl	UTSW	2	35148974	missense	probably damaging	1.00
R4519:Cntrl	UTSW	2	35173111	missense	probably damaging	1.00
R4646:Cntrl	UTSW	2	35149461	missense	probably damaging	0.99
R4753:Cntrl	UTSW	2	35153439	missense	possibly damaging	0.90
R4763:Cntrl	UTSW	2	35175551	missense	probably damaging	1.00
R4916:Cntrl	UTSW	2	35165682	missense	probably benign	0.42
R5168:Cntrl	UTSW	2	35157655	missense	probably damaging	1.00
R5291:Cntrl	UTSW	2	35134060	missense	probably damaging	1.00
R5356:Cntrl	UTSW	2	35148899	nonsense	probably null
R5774:Cntrl	UTSW	2	35162861	missense	probably benign	0.15
R5947:Cntrl	UTSW	2	35116679	missense	probably damaging	1.00
R6144:Cntrl	UTSW	2	35165733	missense	possibly damaging	0.93
R6147:Cntrl	UTSW	2	35165733	missense	possibly damaging	0.93
R6214:Cntrl	UTSW	2	35129634	missense	probably benign	0.10
R6267:Cntrl	UTSW	2	35129793	missense	probably damaging	1.00
R6332:Cntrl	UTSW	2	35128024	missense	possibly damaging	0.78
R6445:Cntrl	UTSW	2	35162848	missense	probably benign	0.05
R6487:Cntrl	UTSW	2	35122682	missense	possibly damaging	0.89
R6497:Cntrl	UTSW	2	35135572	missense	possibly damaging	0.66
R6782:Cntrl	UTSW	2	35170646	missense	possibly damaging	0.75
R6815:Cntrl	UTSW	2	35149491	missense	probably damaging	1.00
R6853:Cntrl	UTSW	2	35129821	missense	possibly damaging	0.87
R6858:Cntrl	UTSW	2	35162095	critical splice donor site	probably null
R6965:Cntrl	UTSW	2	35162833	missense	probably benign	0.20
R6970:Cntrl	UTSW	2	35118137	missense	probably benign
R7085:Cntrl	UTSW	2	35165792	missense	probably benign	0.00
R7150:Cntrl	UTSW	2	35165445	critical splice acceptor site	probably null
R7213:Cntrl	UTSW	2	35135680	missense	possibly damaging	0.95
R7221:Cntrl	UTSW	2	35151857	missense	possibly damaging	0.46
R7389:Cntrl	UTSW	2	35127517	missense	probably benign	0.01
R7414:Cntrl	UTSW	2	35165467	missense	probably benign	0.02
R7427:Cntrl	UTSW	2	35170534	missense	probably benign	0.00
R7428:Cntrl	UTSW	2	35170534	missense	probably benign	0.00
R7453:Cntrl	UTSW	2	35155409	missense	possibly damaging	0.89
R7747:Cntrl	UTSW	2	35116798	missense	probably damaging	1.00
R7753:Cntrl	UTSW	2	35111679	missense	probably damaging	1.00
R7811:Cntrl	UTSW	2	35162861	missense	probably benign	0.00
R7882:Cntrl	UTSW	2	35170580	missense	probably benign	0.41
R7919:Cntrl	UTSW	2	35127401	missense	probably benign
R8314:Cntrl	UTSW	2	35175143	missense	probably benign	0.00
R8332:Cntrl	UTSW	2	35126025	missense	probably damaging	1.00
R8681:Cntrl	UTSW	2	35148588	missense	probably damaging	1.00
R8698:Cntrl	UTSW	2	35133962	missense	probably damaging	0.98
R8717:Cntrl	UTSW	2	35113339	missense	probably benign	0.40
R8960:Cntrl	UTSW	2	35162041	missense	possibly damaging	0.89
R9036:Cntrl	UTSW	2	35126059	missense	probably damaging	1.00
R9617:Cntrl	UTSW	2	35145065	missense	probably benign	0.00
R9621:Cntrl	UTSW	2	35160266	missense	probably damaging	0.96
RF007:Cntrl	UTSW	2	35170500	missense	probably benign
RF016:Cntrl	UTSW	2	35119986	missense	probably benign
RF017:Cntrl	UTSW	2	35175189	missense	probably damaging	0.96
X0024:Cntrl	UTSW	2	35147296	missense	probably damaging	1.00
X0026:Cntrl	UTSW	2	35149516	missense	probably damaging	1.00
X0027:Cntrl	UTSW	2	35157768	missense	probably damaging	1.00
X0027:Cntrl	UTSW	2	35165682	missense	probably benign	0.08
X0028:Cntrl	UTSW	2	35147344	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GTTTTGCACTGTTCTGAGCATAC -3'
(R):5'- ACAGTTCACAAAGCCCTTGTC -3'

Sequencing Primer
(F):5'- CACTGTTCTGAGCATACTTGATG -3'
(R):5'- ACAAAGCCCTTGTCCATGTTC -3'

Posted On

2014-06-23