Mutagenetix > Incidental Mutation

Incidental Mutation 'R4516:Cntrl'

332895

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

041760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35109492-35178822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35127981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 468 (V468I)

Ref Sequence

ENSEMBL: ENSMUSP00000118731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028235] [ENSMUST00000028237] [ENSMUST00000113032] [ENSMUST00000113033] [ENSMUST00000113034] [ENSMUST00000113037] [ENSMUST00000150807] [ENSMUST00000156933]

AlphaFold

A2AL36

Predicted Effect

probably benign
Transcript: ENSMUST00000028235
AA Change: V468I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: V468I

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 benign
Transcript: ENSMUST00000028237
AA Change: V468I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: V468I

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 benign
Transcript: ENSMUST00000113032
AA Change: V468I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: V468I

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: ENSMUST00000113033

SMART Domains

Protein: ENSMUSP00000108656
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	1	247	N/A	INTRINSIC
coiled coil region	305	418	N/A	INTRINSIC
low complexity region	422	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113034

SMART Domains

Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	1	247	N/A	INTRINSIC
internal_repeat_3	261	278	5.68e-5	PROSPERO
coiled coil region	305	418	N/A	INTRINSIC
low complexity region	422	442	N/A	INTRINSIC
coiled coil region	445	549	N/A	INTRINSIC
internal_repeat_1	566	579	1.52e-6	PROSPERO
internal_repeat_2	568	596	2.75e-5	PROSPERO
low complexity region	600	608	N/A	INTRINSIC
internal_repeat_2	626	653	2.75e-5	PROSPERO
low complexity region	715	748	N/A	INTRINSIC
coiled coil region	767	1076	N/A	INTRINSIC
internal_repeat_3	1095	1112	5.68e-5	PROSPERO
low complexity region	1184	1224	N/A	INTRINSIC
low complexity region	1344	1356	N/A	INTRINSIC
low complexity region	1366	1388	N/A	INTRINSIC
low complexity region	1400	1415	N/A	INTRINSIC
low complexity region	1421	1432	N/A	INTRINSIC
low complexity region	1640	1655	N/A	INTRINSIC
internal_repeat_1	1699	1712	1.52e-6	PROSPERO
low complexity region	1736	1754	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113037

SMART Domains

Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	1	247	N/A	INTRINSIC
internal_repeat_3	261	278	5.34e-5	PROSPERO
coiled coil region	305	548	N/A	INTRINSIC
internal_repeat_1	565	578	1.42e-6	PROSPERO
internal_repeat_2	567	595	2.58e-5	PROSPERO
low complexity region	599	607	N/A	INTRINSIC
internal_repeat_2	625	652	2.58e-5	PROSPERO
low complexity region	714	747	N/A	INTRINSIC
coiled coil region	766	1075	N/A	INTRINSIC
internal_repeat_3	1094	1111	5.34e-5	PROSPERO
low complexity region	1183	1223	N/A	INTRINSIC
low complexity region	1343	1355	N/A	INTRINSIC
low complexity region	1365	1387	N/A	INTRINSIC
low complexity region	1399	1414	N/A	INTRINSIC
low complexity region	1420	1431	N/A	INTRINSIC
low complexity region	1639	1654	N/A	INTRINSIC
internal_repeat_1	1698	1711	1.42e-6	PROSPERO
low complexity region	1735	1753	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000123884
AA Change: V68I

SMART Domains

Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
AA Change: V68I

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 benign
Transcript: ENSMUST00000150807

SMART Domains

Protein: ENSMUSP00000142683
Gene: ENSMUSG00000057110

Domain	Start	End	E-Value	Type
coiled coil region	1	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156933
AA Change: V468I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: V468I

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.6%
20x: 92.9%

Validation Efficiency

86% (51/59)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,517,200		probably benign	Het
4930452B06Rik	A	T	14: 8,536,609	D199E	probably damaging	Het
4932438A13Rik	T	C	3: 36,895,311	S369P	possibly damaging	Het
Bean1	T	C	8: 104,215,154	S211P	probably damaging	Het
Camta1	A	G	4: 151,144,720	S552P	possibly damaging	Het
Cdh11	T	C	8: 102,673,962	T125A	possibly damaging	Het
Cdk5rap2	A	T	4: 70,276,715		probably null	Het
Cenpc1	A	G	5: 86,047,587	S108P	possibly damaging	Het
Cfap44	T	A	16: 44,473,864	Y224*	probably null	Het
Cfap46	G	A	7: 139,660,082		probably benign	Het
Col6a6	C	T	9: 105,698,949	V2071I	possibly damaging	Het
Coq7	A	T	7: 118,509,907	L306Q	unknown	Het
D7Ertd443e	C	G	7: 134,293,328	Q591H	probably damaging	Het
Dchs1	C	T	7: 105,754,852	V2828M	probably damaging	Het
Dzank1	T	A	2: 144,510,122		probably benign	Het
Elmo1	C	T	13: 20,282,914	T235I	probably benign	Het
Elp3	A	T	14: 65,547,877	F492I	possibly damaging	Het
Espl1	A	G	15: 102,323,236	S90G	probably benign	Het
Fbxl20	T	C	11: 98,095,235		probably benign	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gm16286	G	A	18: 80,211,576	M28I	probably benign	Het
Got1	T	C	19: 43,504,841	Y243C	probably damaging	Het
Hipk1	G	T	3: 103,750,372	H799N	probably damaging	Het
Kif21a	A	T	15: 90,971,142	M673K	probably benign	Het
Lama3	T	A	18: 12,495,358	D1502E	probably damaging	Het
Limk1	A	G	5: 134,676,786		probably benign	Het
Myo5b	A	G	18: 74,625,674	Y242C	probably damaging	Het
Ncbp1	T	C	4: 46,157,824	V354A	probably damaging	Het
Ncoa2	T	C	1: 13,146,906	D1380G	probably damaging	Het
Ntng1	A	G	3: 109,935,013	I148T	probably damaging	Het
Oas1d	A	T	5: 120,919,170	T280S	probably damaging	Het
Olfr1229	T	A	2: 89,282,843	M118L	probably benign	Het
Olfr389	C	T	11: 73,777,040	G96S	probably benign	Het
Pax7	T	G	4: 139,780,793	D307A	probably benign	Het
Pdxdc1	G	A	16: 13,838,346	Q621*	probably null	Het
Rab29	A	T	1: 131,867,731	Y27F	possibly damaging	Het
Rab3gap2	G	A	1: 185,267,068	V991I	probably benign	Het
Ric1	A	G	19: 29,570,765	T278A	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc47a1	T	C	11: 61,344,513	H498R	probably benign	Het
Tas2r116	T	C	6: 132,856,150	L238P	probably damaging	Het
Tigd5	A	T	15: 75,910,515	R252*	probably null	Het
Tlr6	A	G	5: 64,954,904	F220S	possibly damaging	Het
Tmem106b	C	T	6: 13,075,099	T95I	probably damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn1r174	A	G	7: 23,754,343	I145V	probably benign	Het
Vps26a	T	C	10: 62,468,345	M116V	probably 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
R1786: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
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'- AGCTTTGTTCTGCAATGGAAC -3'
(R):5'- GTGCCACCCCACCTGAATTT -3'

Sequencing Primer
(F):5'- CCTTAACTGGGTGGAGTT -3'
(R):5'- AATATCCCTGGCTGGTCTGGAAC -3'

Posted On

2015-08-18