Mutagenetix > Incidental Mutation

Incidental Mutation 'R8717:Cntrl'

669931

Institutional Source

Beutler Lab

Gene Symbol

Cntrl

Ensembl Gene

ENSMUSG00000057110

Gene Name

centriolin

Synonyms

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

MMRRC Submission

068570-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R8717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34999504-35068834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35003351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 78 (V78E)

Ref Sequence

ENSEMBL: ENSMUSP00000028235 (fasta)

Gene Model

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

AlphaFold

A2AL36

Predicted Effect

probably benign
Transcript: ENSMUST00000028235
AA Change: V78E

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: V78E

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: V78E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: V78E

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: V78E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: V78E

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

possibly damaging
Transcript: ENSMUST00000156933
AA Change: V78E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: V78E

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,543,958 (GRCm39)	F528L	probably benign	Het
Aadacl3	T	G	4: 144,182,778 (GRCm39)	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,403,579 (GRCm39)		probably benign	Het
Agtr1a	A	C	13: 30,565,357 (GRCm39)	T141P	probably damaging	Het
Ankfy1	T	A	11: 72,621,300 (GRCm39)	D195E	probably benign	Het
AY074887	G	A	9: 54,857,786 (GRCm39)	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,034,314 (GRCm39)	A71V		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cyp2c67	T	A	19: 39,627,155 (GRCm39)	Y225F	probably benign	Het
Cyp2j13	T	A	4: 95,933,777 (GRCm39)	H369L	probably benign	Het
Dagla	T	C	19: 10,225,587 (GRCm39)	E859G	probably benign	Het
Duox1	C	A	2: 122,168,152 (GRCm39)	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,556,561 (GRCm39)	S662I	probably benign	Het
Epor	A	T	9: 21,870,741 (GRCm39)	C380S	probably benign	Het
Fsd2	T	C	7: 81,190,090 (GRCm39)	E564G	probably benign	Het
Hace1	C	T	10: 45,481,694 (GRCm39)	T117I	unknown	Het
Ift172	A	G	5: 31,412,985 (GRCm39)	M1488T	probably benign	Het
Insyn1	A	G	9: 58,406,623 (GRCm39)	T178A	probably damaging	Het
Kdm3b	A	G	18: 34,952,840 (GRCm39)	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,434,711 (GRCm39)	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,783,253 (GRCm39)	E33K	probably damaging	Het
Magel2	T	C	7: 62,027,420 (GRCm39)	M108T	unknown	Het
Mief1	T	C	15: 80,132,584 (GRCm39)	S127P	probably benign	Het
Mprip	T	C	11: 59,650,526 (GRCm39)	V1410A	probably benign	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,738,687 (GRCm39)	M25K	possibly damaging	Het
Neb	T	G	2: 52,073,781 (GRCm39)	H5942P	probably damaging	Het
Nf2	A	T	11: 4,766,099 (GRCm39)	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,368,225 (GRCm39)	M1166L	probably benign	Het
Npnt	A	T	3: 132,614,136 (GRCm39)	L206Q	probably damaging	Het
Or10ak13	T	C	4: 118,638,996 (GRCm39)	Y262C	probably damaging	Het
Or4g7	A	G	2: 111,309,992 (GRCm39)	T288A	probably damaging	Het
Or6c65	T	A	10: 129,604,127 (GRCm39)	I254N	probably damaging	Het
Parg	A	G	14: 31,932,492 (GRCm39)	K444R	probably benign	Het
Pcbp4	A	T	9: 106,337,202 (GRCm39)		probably null	Het
Pcdhgb4	A	G	18: 37,853,847 (GRCm39)	S81G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekho2	T	C	9: 65,464,058 (GRCm39)	N264D	probably benign	Het
Pmpca	T	A	2: 26,281,893 (GRCm39)	M182K	probably damaging	Het
Prdm10	A	G	9: 31,252,695 (GRCm39)	H476R	probably benign	Het
Prxl2a	G	A	14: 40,720,836 (GRCm39)	P126S	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rbp3	G	A	14: 33,678,395 (GRCm39)	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695 (GRCm39)	S409R	probably damaging	Het
Ryr1	C	A	7: 28,751,753 (GRCm39)	R3680L	probably benign	Het
Sbno1	T	C	5: 124,512,618 (GRCm39)	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,685,763 (GRCm39)	D271G	probably benign	Het
Sin3a	C	T	9: 57,034,510 (GRCm39)	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,294,620 (GRCm39)	R294G	probably benign	Het
Smcr8	T	A	11: 60,670,254 (GRCm39)	S467R	probably damaging	Het
Spaca7	A	G	8: 12,636,480 (GRCm39)	Y102C	probably damaging	Het
Tacr1	A	G	6: 82,380,706 (GRCm39)	Y39C	probably damaging	Het
Tenm3	G	A	8: 48,752,680 (GRCm39)	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,415,132 (GRCm39)	M307K	possibly damaging	Het
Tnn	A	G	1: 159,943,846 (GRCm39)	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,460,186 (GRCm39)	N441K	probably damaging	Het
Ttll1	T	C	15: 83,373,709 (GRCm39)	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,576,705 (GRCm39)	V858I	probably benign	Het
Ufsp2	G	T	8: 46,436,614 (GRCm39)	V122L	probably benign	Het
Wdr26	A	G	1: 181,011,913 (GRCm39)	C470R	possibly damaging	Het
Xab2	T	C	8: 3,663,845 (GRCm39)	H358R	probably benign	Het
Xrcc5	A	G	1: 72,422,905 (GRCm39)	I697V	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
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
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'- CAAAGCCCAAAGTGATAGACTGTG -3'
(R):5'- TTCTGGCAGGCTTAAGACATAAG -3'

Sequencing Primer
(F):5'- AAAGTGATAGACTGTGTTCATTATGG -3'
(R):5'- TGGCAGGCTTAAGACATAAGAAAGTG -3'

Posted On

2021-04-30