Mutagenetix > Incidental Mutation

Incidental Mutation 'R2349:Cntrl'

247380

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

040331-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R2349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34999504-35068834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35066263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1739 (T1739A)

Ref Sequence

ENSEMBL: ENSMUSP00000108660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028237] [ENSMUST00000028238] [ENSMUST00000113025] [ENSMUST00000113032] [ENSMUST00000113037] [ENSMUST00000156933]

AlphaFold

A2AL36

Predicted Effect

probably benign
Transcript: ENSMUST00000028237
AA Change: T2293A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: T2293A

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: ENSMUST00000028238

SMART Domains

Protein: ENSMUSP00000028238
Gene: ENSMUSG00000026878

Domain	Start	End	E-Value	Type
RAB	12	175	1.4e-109	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113025

SMART Domains

Protein: ENSMUSP00000108648
Gene: ENSMUSG00000026878

Domain	Start	End	E-Value	Type
RAB	12	151	5.28e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113032
AA Change: T2292A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: T2292A

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: ENSMUST00000113037
AA Change: T1739A

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: T1739A

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

noncoding transcript
Transcript: ENSMUST00000143807

Predicted Effect

probably benign
Transcript: ENSMUST00000156933
AA Change: T2293A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: T2293A

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

0.0631

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,415 (GRCm39)	K77E	probably damaging	Het
Arfgef2	T	A	2: 166,693,948 (GRCm39)	I507N	probably damaging	Het
Atg16l2	T	C	7: 100,945,746 (GRCm39)	K231E	probably damaging	Het
C1s1	C	A	6: 124,518,432 (GRCm39)		probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Col15a1	G	A	4: 47,306,742 (GRCm39)	M289I	probably damaging	Het
Crebbp	G	A	16: 3,956,774 (GRCm39)	R350C	probably damaging	Het
Dbx2	A	G	15: 95,522,840 (GRCm39)	V289A	probably benign	Het
Esam	A	C	9: 37,439,527 (GRCm39)	Q4P	probably benign	Het
Galnt1	A	G	18: 24,413,085 (GRCm39)	M462V	probably benign	Het
Got1l1	T	C	8: 27,687,959 (GRCm39)	T357A	probably benign	Het
Gpr182	T	A	10: 127,586,806 (GRCm39)	K48N	probably damaging	Het
Hdlbp	A	G	1: 93,349,956 (GRCm39)		probably benign	Het
Ifi209	G	A	1: 173,470,122 (GRCm39)	V237M	probably damaging	Het
Igf2r	A	T	17: 12,941,198 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,279 (GRCm39)	M2520T	probably benign	Het
Krt222	A	G	11: 99,129,591 (GRCm39)		probably benign	Het
Nkx2-9	A	G	12: 56,659,007 (GRCm39)	L69P	probably benign	Het
Papss1	A	G	3: 131,305,627 (GRCm39)	D203G	probably benign	Het
Pex13	A	G	11: 23,605,789 (GRCm39)	M147T	probably damaging	Het
Pkd1l1	A	T	11: 8,776,819 (GRCm39)		probably null	Het
Rac2	A	G	15: 78,449,675 (GRCm39)	V85A	possibly damaging	Het
Rock2	A	G	12: 17,027,616 (GRCm39)	N127S	probably benign	Het
Sfswap	C	T	5: 129,646,802 (GRCm39)	R875C	possibly damaging	Het
Slco5a1	C	T	1: 12,991,376 (GRCm39)	V438M	probably damaging	Het
Thsd4	A	G	9: 59,879,798 (GRCm39)	Y620H	probably benign	Het
Trip4	T	C	9: 65,773,844 (GRCm39)	D246G	probably benign	Het
Usp10	T	C	8: 120,683,448 (GRCm39)	*88R	probably null	Het
Vars1	A	G	17: 35,234,728 (GRCm39)	I1186V	probably benign	Het
Vps13c	A	G	9: 67,864,808 (GRCm39)	D3039G	possibly damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Xpo6	A	T	7: 125,712,875 (GRCm39)	V701E	probably benign	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
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
R4753:Cntrl	UTSW	2	35,043,451 (GRCm39)	missense	possibly damaging	0.90
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'- GATTGGTGATTACTGCCATGC -3'
(R):5'- CAGCGATGGCAGACAAATAGTC -3'

Sequencing Primer
(F):5'- GCAGAGTACATTCAGGAGCATTTC -3'
(R):5'- TCTTTGCTAAGACAGTTGAGGG -3'

Posted On

2014-11-11