Mutagenetix > Incidental Mutation

Incidental Mutation 'R0801:Cntrl'

76265

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

038981-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R0801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34999504-35068834 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 35065107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118731 (fasta)

Gene Model

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

AlphaFold

A2AL36

Predicted Effect

probably benign
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 benign
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: 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

noncoding transcript
Transcript: ENSMUST00000143807

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.6%
20x: 94.7%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	A	G	10: 43,050,987 (GRCm39)	K94E	possibly damaging	Het
Aldh16a1	A	T	7: 44,796,900 (GRCm39)	C228S	probably benign	Het
Arnt	G	T	3: 95,401,157 (GRCm39)	R702L	possibly damaging	Het
Ccdc174	A	G	6: 91,872,313 (GRCm39)	E314G	possibly damaging	Het
Ccdc81	T	C	7: 89,536,866 (GRCm39)		probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Cenpm	A	T	15: 82,118,667 (GRCm39)	I149N	probably benign	Het
Cfap44	C	T	16: 44,242,849 (GRCm39)	S751L	probably benign	Het
Col1a2	A	G	6: 4,531,316 (GRCm39)	T762A	unknown	Het
Crebbp	T	C	16: 3,906,140 (GRCm39)	K1621E	probably damaging	Het
Cux1	T	A	5: 136,355,783 (GRCm39)	I374L	probably damaging	Het
Dgkq	A	T	5: 108,808,586 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,226,436 (GRCm39)	I365V	probably benign	Het
Dock2	T	C	11: 34,599,620 (GRCm39)	R320G	probably damaging	Het
Dst	A	G	1: 34,209,470 (GRCm39)	N853S	probably damaging	Het
Egf	T	C	3: 129,496,234 (GRCm39)		probably benign	Het
Eif2ak2	T	A	17: 79,173,778 (GRCm39)	R267*	probably null	Het
Ern2	A	G	7: 121,780,085 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,568 (GRCm39)	S123G	probably benign	Het
Fam13a	G	T	6: 58,960,997 (GRCm39)	N118K	probably benign	Het
Gcn1	T	A	5: 115,729,065 (GRCm39)	M792K	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf3	C	T	7: 44,650,058 (GRCm39)		probably benign	Het
Map2k5	T	A	9: 63,265,261 (GRCm39)		probably benign	Het
Mcf2l	T	A	8: 13,064,020 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,533,507 (GRCm39)	I878K	probably damaging	Het
Mdn1	T	C	4: 32,668,895 (GRCm39)	S318P	probably benign	Het
Or13a19	G	A	7: 139,902,831 (GRCm39)	C73Y	probably damaging	Het
Or5aq1b	G	A	2: 86,902,407 (GRCm39)	Q24*	probably null	Het
Pklr	G	A	3: 89,052,829 (GRCm39)	W527*	probably null	Het
Pnpla5	T	C	15: 83,998,121 (GRCm39)	M374V	probably benign	Het
Ptprn	G	T	1: 75,228,909 (GRCm39)	H835Q	probably damaging	Het
R3hdm4	A	G	10: 79,749,191 (GRCm39)		probably benign	Het
Rgs8	T	A	1: 153,546,557 (GRCm39)	C19S	probably damaging	Het
Smarca4	C	A	9: 21,553,850 (GRCm39)	Q575K	possibly damaging	Het
Srgap1	A	T	10: 121,643,780 (GRCm39)	F612L	probably damaging	Het
Svil	A	G	18: 5,099,443 (GRCm39)	R1256G	probably benign	Het
Tox4	T	C	14: 52,517,335 (GRCm39)	S22P	probably benign	Het
Ttc39d	A	G	17: 80,523,644 (GRCm39)	Y101C	probably damaging	Het
Usb1	T	C	8: 96,060,168 (GRCm39)		probably null	Het
Vps13a	T	C	19: 16,664,020 (GRCm39)		probably benign	Het
Vps26a	G	A	10: 62,294,857 (GRCm39)		probably benign	Het
Zfp638	T	A	6: 83,949,220 (GRCm39)		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
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
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'- TGGTTCAtgtagagagccagggaag -3'
(R):5'- ACAGGTGGGAGCCAACCATCTT -3'

Sequencing Primer
(F):5'- gagccagggaagagcac -3'
(R):5'- ACGGGAAGTTCTCTTTCAAGC -3'

Posted On

2013-10-16