Mutagenetix > Incidental Mutation

Incidental Mutation 'R6487:Cntrl'

517465

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

044619-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34999504-35068834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35012694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 277 (K277N)

Ref Sequence

ENSEMBL: ENSMUSP00000118731 (fasta)

Gene Model

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

AlphaFold

A2AL36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028235
AA Change: K277N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: K277N

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

possibly damaging
Transcript: ENSMUST00000028237
AA Change: K277N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: K277N

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: K277N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: K277N

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

possibly damaging
Transcript: ENSMUST00000156933
AA Change: K277N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: K277N

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (32/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,446 (GRCm39)	Y963H	possibly damaging	Het
Alpk2	T	C	18: 65,399,254 (GRCm39)	N2108S	possibly damaging	Het
Atp13a1	T	C	8: 70,252,528 (GRCm39)	S641P	probably damaging	Het
Bptf	C	T	11: 106,968,552 (GRCm39)	V981I	probably damaging	Het
Cops5	T	C	1: 10,108,004 (GRCm39)	T12A	probably benign	Het
Cyp2c37	A	T	19: 39,983,025 (GRCm39)	T205S	probably benign	Het
Dnah7c	T	C	1: 46,808,284 (GRCm39)	V3485A	probably damaging	Het
Ifna6	A	T	4: 88,745,743 (GRCm39)	N31Y	probably damaging	Het
Irgm1	C	A	11: 48,756,777 (GRCm39)	A345S	probably benign	Het
Kics2	T	C	10: 121,581,446 (GRCm39)	L13P	probably damaging	Het
Med13	T	C	11: 86,221,976 (GRCm39)	T218A	probably damaging	Het
Mroh2b	G	T	15: 4,976,721 (GRCm39)	D1225Y	probably damaging	Het
Npepl1	A	G	2: 173,953,525 (GRCm39)	E152G	probably benign	Het
Oog2	A	G	4: 143,923,055 (GRCm39)	E440G	possibly damaging	Het
Or4c35	A	T	2: 89,808,182 (GRCm39)	D20V	probably benign	Het
Or4k38	T	C	2: 111,166,012 (GRCm39)	D137G	probably benign	Het
Or5d41	A	G	2: 88,054,870 (GRCm39)	S169P	possibly damaging	Het
Or5h26	A	T	16: 58,988,536 (GRCm39)		probably null	Het
Or8b54	A	G	9: 38,686,731 (GRCm39)	Y60C	probably damaging	Het
Ranbp2	T	C	10: 58,321,563 (GRCm39)	V2620A	probably benign	Het
Rims4	A	T	2: 163,706,817 (GRCm39)	F187Y	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Shisa9	C	T	16: 12,062,475 (GRCm39)	T232I	probably benign	Het
Slf1	A	T	13: 77,214,736 (GRCm39)	I650N	probably damaging	Het
Tpst2	T	C	5: 112,455,989 (GRCm39)	L176P	probably damaging	Het
U2surp	A	T	9: 95,359,565 (GRCm39)	M650K	probably damaging	Het
Vmn1r17	A	T	6: 57,338,209 (GRCm39)	M3K	possibly damaging	Het
Vmn1r55	A	G	7: 5,149,554 (GRCm39)	S290P	probably benign	Het
Vmn2r102	G	A	17: 19,898,169 (GRCm39)	E395K	probably damaging	Het
Wapl	T	A	14: 34,414,249 (GRCm39)	H370Q	probably damaging	Het
Xab2	T	C	8: 3,663,879 (GRCm39)	S347G	possibly 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
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
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'- CAGATTCAGATTCAAGGTGGTCAAC -3'
(R):5'- GCTACAGCAGGACATAGTGC -3'

Sequencing Primer
(F):5'- GGTGGTCAACTTTTTCCCTAAACAG -3'
(R):5'- GCAGGACATAGTGCTTTTACATG -3'

Posted On

2018-05-21