Mutagenetix > Incidental Mutation

Incidental Mutation 'R4753:Cntrl'

357716

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

041971-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34999504-35068834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35043451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1313 (V1313E)

Ref Sequence

ENSEMBL: ENSMUSP00000118731 (fasta)

Gene Model

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

AlphaFold

A2AL36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028237
AA Change: V1313E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: V1313E

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

possibly damaging
Transcript: ENSMUST00000113032
AA Change: V1312E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: V1312E

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: ENSMUST00000113034
AA Change: V760E

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: V760E

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

possibly damaging
Transcript: ENSMUST00000113037
AA Change: V759E

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: V759E

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

possibly damaging
Transcript: ENSMUST00000156933
AA Change: V1313E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: V1313E

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

0.3804

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,500,009 (GRCm39)	D257E	probably benign	Het
Arhgef18	T	C	8: 3,494,938 (GRCm39)	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710 (GRCm39)	P1117S	probably damaging	Het
Cd48	A	G	1: 171,527,156 (GRCm39)	Q194R	probably damaging	Het
Cdk13	G	A	13: 17,937,833 (GRCm39)	R737C	probably damaging	Het
Clasrp	A	T	7: 19,328,865 (GRCm39)	I89N	probably damaging	Het
Clrn1	G	T	3: 58,792,318 (GRCm39)	N48K	probably damaging	Het
Cyld	T	A	8: 89,471,444 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dtl	T	C	1: 191,301,815 (GRCm39)	T81A	probably damaging	Het
Dus1l	C	T	11: 120,682,901 (GRCm39)	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,463,129 (GRCm39)	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,586,095 (GRCm39)	H228N	probably damaging	Het
Fhod3	A	T	18: 25,223,382 (GRCm39)	K909N	possibly damaging	Het
Fign	T	A	2: 63,809,363 (GRCm39)	I636L	probably benign	Het
Foxm1	A	G	6: 128,349,519 (GRCm39)	E346G	probably null	Het
Gcc2	T	C	10: 58,126,204 (GRCm39)	Y1271H	probably benign	Het
Gcn1	T	C	5: 115,754,537 (GRCm39)	V2379A	probably benign	Het
Grin2d	G	T	7: 45,483,330 (GRCm39)	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,909,762 (GRCm39)	M53I	probably benign	Het
Itgad	A	G	7: 127,822,875 (GRCm39)	*97W	probably null	Het
Jade1	C	T	3: 41,551,106 (GRCm39)	R2*	probably null	Het
Lama3	G	T	18: 12,615,141 (GRCm39)	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,710,752 (GRCm39)	S12P	probably benign	Het
Masp2	A	G	4: 148,696,608 (GRCm39)	T402A	probably benign	Het
Mill1	A	C	7: 17,996,472 (GRCm39)	K96T	probably benign	Het
Muc19	T	G	15: 91,761,955 (GRCm39)		noncoding transcript	Het
Muc5b	C	A	7: 141,410,590 (GRCm39)	T1321N	unknown	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or1ad1	T	C	11: 50,875,978 (GRCm39)	V150A	probably benign	Het
Or1e35	T	A	11: 73,797,677 (GRCm39)	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,342,185 (GRCm39)	P669S	probably damaging	Het
Procr	A	G	2: 155,595,384 (GRCm39)	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,518,799 (GRCm39)	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,642,769 (GRCm39)	M677V	probably benign	Het
Rad52	T	A	6: 119,889,946 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,436,509 (GRCm39)		probably null	Het
Rogdi	T	C	16: 4,828,363 (GRCm39)	T189A	probably damaging	Het
Rph3al	G	A	11: 75,799,845 (GRCm39)	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,566,707 (GRCm39)	V655E	possibly damaging	Het
Sik3	T	C	9: 46,109,512 (GRCm39)	F499L	probably damaging	Het
Skint4	A	G	4: 112,003,728 (GRCm39)	N387S	probably benign	Het
Slc6a12	C	T	6: 121,333,862 (GRCm39)		probably benign	Het
Stk36	A	G	1: 74,665,255 (GRCm39)	T667A	probably benign	Het
Svep1	T	C	4: 58,053,212 (GRCm39)	I3378V	probably benign	Het
Thnsl1	C	T	2: 21,218,175 (GRCm39)	T122I	probably damaging	Het
Timeless	G	A	10: 128,075,889 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,914,909 (GRCm39)	V1966I	possibly damaging	Het
Tril	A	G	6: 53,796,698 (GRCm39)	F175L	probably damaging	Het
Vav1	A	G	17: 57,613,140 (GRCm39)	Y604C	probably damaging	Het
Zfp423	T	A	8: 88,508,074 (GRCm39)	M736L	probably benign	Het
Zscan10	A	C	17: 23,826,208 (GRCm39)	E123D	probably damaging	Het

Other mutations in Cntrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cntrl	APN	2	35,027,826 (GRCm39)	splice site	probably benign
IGL00478:Cntrl	APN	2	35,050,613 (GRCm39)	missense	probably damaging	0.98
IGL01460:Cntrl	APN	2	35,055,856 (GRCm39)	missense	probably benign	0.04
IGL01556:Cntrl	APN	2	35,063,071 (GRCm39)	missense	probably benign	0.19
IGL02155:Cntrl	APN	2	35,050,250 (GRCm39)	splice site	probably benign
IGL02419:Cntrl	APN	2	35,024,055 (GRCm39)	missense	probably damaging	0.97
PIT4480001:Cntrl	UTSW	2	35,045,440 (GRCm39)	missense	probably damaging	0.96
R0179:Cntrl	UTSW	2	35,057,871 (GRCm39)	missense	probably benign	0.00
R0276:Cntrl	UTSW	2	35,041,744 (GRCm39)	missense	possibly damaging	0.62
R0471:Cntrl	UTSW	2	35,017,392 (GRCm39)	missense	probably benign	0.41
R0755:Cntrl	UTSW	2	35,035,151 (GRCm39)	missense	probably damaging	1.00
R0763:Cntrl	UTSW	2	35,061,078 (GRCm39)	missense	probably benign
R0781:Cntrl	UTSW	2	35,050,639 (GRCm39)	missense	possibly damaging	0.66
R0791:Cntrl	UTSW	2	35,045,291 (GRCm39)	missense	possibly damaging	0.83
R0792:Cntrl	UTSW	2	35,045,291 (GRCm39)	missense	possibly damaging	0.83
R0801:Cntrl	UTSW	2	35,065,107 (GRCm39)	splice site	probably benign
R1067:Cntrl	UTSW	2	35,039,034 (GRCm39)	unclassified	probably benign
R1110:Cntrl	UTSW	2	35,050,639 (GRCm39)	missense	possibly damaging	0.66
R1117:Cntrl	UTSW	2	35,017,985 (GRCm39)	missense	probably damaging	1.00
R1457:Cntrl	UTSW	2	35,012,768 (GRCm39)	missense	probably benign	0.00
R1472:Cntrl	UTSW	2	35,059,329 (GRCm39)	critical splice donor site	probably null
R1522:Cntrl	UTSW	2	35,045,291 (GRCm39)	missense	possibly damaging	0.83
R1702:Cntrl	UTSW	2	35,061,848 (GRCm39)	critical splice acceptor site	probably null
R1762:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R1785:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R1786:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R1812:Cntrl	UTSW	2	35,039,481 (GRCm39)	missense	probably damaging	0.97
R1854:Cntrl	UTSW	2	35,012,696 (GRCm39)	missense	probably damaging	1.00
R1863:Cntrl	UTSW	2	35,008,131 (GRCm39)	missense	possibly damaging	0.93
R1868:Cntrl	UTSW	2	35,019,827 (GRCm39)	missense	probably benign	0.03
R1914:Cntrl	UTSW	2	35,052,873 (GRCm39)	missense	probably benign	0.00
R1915:Cntrl	UTSW	2	35,052,873 (GRCm39)	missense	probably benign	0.00
R2049:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R2118:Cntrl	UTSW	2	35,051,977 (GRCm39)	missense	probably benign	0.31
R2140:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R2142:Cntrl	UTSW	2	35,012,818 (GRCm39)	frame shift	probably null
R2203:Cntrl	UTSW	2	35,033,749 (GRCm39)	missense	possibly damaging	0.84
R2300:Cntrl	UTSW	2	35,017,525 (GRCm39)	missense	probably benign	0.00
R2349:Cntrl	UTSW	2	35,066,263 (GRCm39)	missense	probably benign	0.18
R2374:Cntrl	UTSW	2	35,043,288 (GRCm39)	missense	possibly damaging	0.46
R3429:Cntrl	UTSW	2	35,035,112 (GRCm39)	missense	probably damaging	1.00
R3890:Cntrl	UTSW	2	35,060,492 (GRCm39)	missense	probably benign	0.02
R3911:Cntrl	UTSW	2	35,010,061 (GRCm39)	missense	probably damaging	1.00
R3922:Cntrl	UTSW	2	35,019,751 (GRCm39)	missense	probably damaging	0.98
R4081:Cntrl	UTSW	2	35,065,137 (GRCm39)	missense	probably damaging	1.00
R4081:Cntrl	UTSW	2	35,051,938 (GRCm39)	splice site	probably benign
R4516:Cntrl	UTSW	2	35,017,993 (GRCm39)	missense	probably benign	0.00
R4518:Cntrl	UTSW	2	35,038,986 (GRCm39)	missense	probably damaging	1.00
R4519:Cntrl	UTSW	2	35,063,123 (GRCm39)	missense	probably damaging	1.00
R4646:Cntrl	UTSW	2	35,039,473 (GRCm39)	missense	probably damaging	0.99
R4763:Cntrl	UTSW	2	35,065,563 (GRCm39)	missense	probably damaging	1.00
R4916:Cntrl	UTSW	2	35,055,694 (GRCm39)	missense	probably benign	0.42
R5168:Cntrl	UTSW	2	35,047,667 (GRCm39)	missense	probably damaging	1.00
R5291:Cntrl	UTSW	2	35,024,072 (GRCm39)	missense	probably damaging	1.00
R5356:Cntrl	UTSW	2	35,038,911 (GRCm39)	nonsense	probably null
R5774:Cntrl	UTSW	2	35,052,873 (GRCm39)	missense	probably benign	0.15
R5947:Cntrl	UTSW	2	35,006,691 (GRCm39)	missense	probably damaging	1.00
R6144:Cntrl	UTSW	2	35,055,745 (GRCm39)	missense	possibly damaging	0.93
R6147:Cntrl	UTSW	2	35,055,745 (GRCm39)	missense	possibly damaging	0.93
R6214:Cntrl	UTSW	2	35,019,646 (GRCm39)	missense	probably benign	0.10
R6267:Cntrl	UTSW	2	35,019,805 (GRCm39)	missense	probably damaging	1.00
R6332:Cntrl	UTSW	2	35,018,036 (GRCm39)	missense	possibly damaging	0.78
R6445:Cntrl	UTSW	2	35,052,860 (GRCm39)	missense	probably benign	0.05
R6487:Cntrl	UTSW	2	35,012,694 (GRCm39)	missense	possibly damaging	0.89
R6497:Cntrl	UTSW	2	35,025,584 (GRCm39)	missense	possibly damaging	0.66
R6782:Cntrl	UTSW	2	35,060,658 (GRCm39)	missense	possibly damaging	0.75
R6815:Cntrl	UTSW	2	35,039,503 (GRCm39)	missense	probably damaging	1.00
R6853:Cntrl	UTSW	2	35,019,833 (GRCm39)	missense	possibly damaging	0.87
R6858:Cntrl	UTSW	2	35,052,107 (GRCm39)	critical splice donor site	probably null
R6965:Cntrl	UTSW	2	35,052,845 (GRCm39)	missense	probably benign	0.20
R6970:Cntrl	UTSW	2	35,008,149 (GRCm39)	missense	probably benign
R7085:Cntrl	UTSW	2	35,055,804 (GRCm39)	missense	probably benign	0.00
R7150:Cntrl	UTSW	2	35,055,457 (GRCm39)	critical splice acceptor site	probably null
R7213:Cntrl	UTSW	2	35,025,692 (GRCm39)	missense	possibly damaging	0.95
R7221:Cntrl	UTSW	2	35,041,869 (GRCm39)	missense	possibly damaging	0.46
R7389:Cntrl	UTSW	2	35,017,529 (GRCm39)	missense	probably benign	0.01
R7414:Cntrl	UTSW	2	35,055,479 (GRCm39)	missense	probably benign	0.02
R7427:Cntrl	UTSW	2	35,060,546 (GRCm39)	missense	probably benign	0.00
R7428:Cntrl	UTSW	2	35,060,546 (GRCm39)	missense	probably benign	0.00
R7453:Cntrl	UTSW	2	35,045,421 (GRCm39)	missense	possibly damaging	0.89
R7747:Cntrl	UTSW	2	35,006,810 (GRCm39)	missense	probably damaging	1.00
R7753:Cntrl	UTSW	2	35,001,691 (GRCm39)	missense	probably damaging	1.00
R7811:Cntrl	UTSW	2	35,052,873 (GRCm39)	missense	probably benign	0.00
R7882:Cntrl	UTSW	2	35,060,592 (GRCm39)	missense	probably benign	0.41
R7919:Cntrl	UTSW	2	35,017,413 (GRCm39)	missense	probably benign
R8314:Cntrl	UTSW	2	35,065,155 (GRCm39)	missense	probably benign	0.00
R8332:Cntrl	UTSW	2	35,016,037 (GRCm39)	missense	probably damaging	1.00
R8681:Cntrl	UTSW	2	35,038,600 (GRCm39)	missense	probably damaging	1.00
R8698:Cntrl	UTSW	2	35,023,974 (GRCm39)	missense	probably damaging	0.98
R8717:Cntrl	UTSW	2	35,003,351 (GRCm39)	missense	probably benign	0.40
R8960:Cntrl	UTSW	2	35,052,053 (GRCm39)	missense	possibly damaging	0.89
R9036:Cntrl	UTSW	2	35,016,071 (GRCm39)	missense	probably damaging	1.00
R9617:Cntrl	UTSW	2	35,035,077 (GRCm39)	missense	probably benign	0.00
R9621:Cntrl	UTSW	2	35,050,278 (GRCm39)	missense	probably damaging	0.96
RF007:Cntrl	UTSW	2	35,060,512 (GRCm39)	missense	probably benign
RF016:Cntrl	UTSW	2	35,009,998 (GRCm39)	missense	probably benign
RF017:Cntrl	UTSW	2	35,065,201 (GRCm39)	missense	probably damaging	0.96
X0024:Cntrl	UTSW	2	35,037,308 (GRCm39)	missense	probably damaging	1.00
X0026:Cntrl	UTSW	2	35,039,528 (GRCm39)	missense	probably damaging	1.00
X0027:Cntrl	UTSW	2	35,055,694 (GRCm39)	missense	probably benign	0.08
X0027:Cntrl	UTSW	2	35,047,780 (GRCm39)	missense	probably damaging	1.00
X0028:Cntrl	UTSW	2	35,037,356 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CCCTGGGTACATAATGTATACTGTAC -3'
(R):5'- ACCAGAGATAATTTCTGCATGCTG -3'

Sequencing Primer
(F):5'- ATGTATACTGTACTTCCTGATGGTTC -3'
(R):5'- TGCATGCTGTTTATACATATCTGC -3'

Posted On

2015-11-11