Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Cntln'

228175

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

040061-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85049674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 710 (R710K)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000169371]

AlphaFold

A2AM05

Predicted Effect

probably benign
Transcript: ENSMUST00000047023
AA Change: R710K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: R710K

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	58	86	N/A	INTRINSIC
coiled coil region	96	126	N/A	INTRINSIC
internal_repeat_1	198	219	1.25e-5	PROSPERO
low complexity region	242	251	N/A	INTRINSIC
internal_repeat_1	321	342	1.25e-5	PROSPERO
low complexity region	346	358	N/A	INTRINSIC
coiled coil region	404	433	N/A	INTRINSIC
low complexity region	434	446	N/A	INTRINSIC
coiled coil region	458	481	N/A	INTRINSIC
coiled coil region	516	584	N/A	INTRINSIC
coiled coil region	606	648	N/A	INTRINSIC
coiled coil region	674	780	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
coiled coil region	973	1114	N/A	INTRINSIC
low complexity region	1206	1217	N/A	INTRINSIC
Blast:HisKA	1270	1326	1e-24	BLAST
low complexity region	1327	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169371
AA Change: R710K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: R710K

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	58	86	N/A	INTRINSIC
coiled coil region	96	126	N/A	INTRINSIC
internal_repeat_1	198	219	1.24e-5	PROSPERO
low complexity region	242	251	N/A	INTRINSIC
internal_repeat_1	321	342	1.24e-5	PROSPERO
low complexity region	346	358	N/A	INTRINSIC
coiled coil region	404	433	N/A	INTRINSIC
low complexity region	434	446	N/A	INTRINSIC
coiled coil region	458	481	N/A	INTRINSIC
coiled coil region	516	584	N/A	INTRINSIC
coiled coil region	606	648	N/A	INTRINSIC
coiled coil region	674	780	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
coiled coil region	972	1113	N/A	INTRINSIC
low complexity region	1205	1216	N/A	INTRINSIC
Blast:HisKA	1269	1325	1e-24	BLAST
low complexity region	1326	1347	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	C	6: 50,573,745	R575G	possibly damaging	Het
Abcg2	T	C	6: 58,690,540	V129A	probably benign	Het
Adh1	A	G	3: 138,286,915	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,785,006	D407V	probably benign	Het
Alas1	T	C	9: 106,241,290	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,443,750		probably benign	Het
Ankmy1	T	C	1: 92,881,831	I662V	possibly damaging	Het
Ano1	A	G	7: 144,648,052	V334A	probably damaging	Het
Apc	A	G	18: 34,316,428	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,854,908	T122I	probably benign	Het
Atp2b4	G	T	1: 133,726,537	Q777K	probably benign	Het
Brap	G	A	5: 121,663,466	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,535,157	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477	I1308V	probably benign	Het
Ccser1	T	A	6: 61,422,952		probably null	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cmtm4	A	C	8: 104,355,288	F156V	probably damaging	Het
Csn1s1	A	T	5: 87,671,528	T15S	possibly damaging	Het
Cul9	T	C	17: 46,543,372	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,403,814	I363F	probably damaging	Het
Dhx38	G	T	8: 109,562,720		probably benign	Het
Dis3	A	T	14: 99,098,815	I85N	possibly damaging	Het
Dmbt1	G	A	7: 131,106,170	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,750,132	D1776G	probably damaging	Het
Erbin	A	G	13: 103,830,316	S1209P	probably benign	Het
Fat4	T	A	3: 38,891,170	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,238,528	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,412,487		probably null	Het
Fzd7	A	G	1: 59,484,202	S415G	probably benign	Het
Gpd2	T	A	2: 57,339,013		probably null	Het
Gsk3b	T	A	16: 38,187,909	D192E	probably benign	Het
Gstcd	T	C	3: 133,082,053	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,109,285	L132P	possibly damaging	Het
Il12b	A	C	11: 44,407,900	T61P	probably damaging	Het
Il7	A	T	3: 7,573,915	N130K	probably damaging	Het
Itih3	A	C	14: 30,909,524		probably null	Het
Kdm5b	T	A	1: 134,613,214	D681E	probably benign	Het
Kif11	A	G	19: 37,402,212	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,987,953		probably benign	Het
Kremen2	T	C	17: 23,742,717	E272G	possibly damaging	Het
Krt9	G	T	11: 100,191,495	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,233,094	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,115,817	N648S	probably benign	Het
Mab21l3	C	A	3: 101,815,153	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,564,168	Q1149R	probably benign	Het
Mast1	A	G	8: 84,920,366	F677L	possibly damaging	Het
Mcoln3	A	G	3: 146,128,224	D173G	probably benign	Het
Mmrn1	C	T	6: 60,944,805	T82I	probably benign	Het
Muc5ac	A	G	7: 141,792,035	T203A	probably benign	Het
Myo9b	T	C	8: 71,359,690	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,671,885	N146S	probably damaging	Het
Neu4	A	G	1: 94,022,450	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,327,646	L267F	probably damaging	Het
Olfr1208	A	G	2: 88,896,761	F279L	probably damaging	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr399	A	T	11: 74,053,993	Y255*	probably null	Het
Phc1	T	C	6: 122,333,340	N136S	probably damaging	Het
Prkdc	A	G	16: 15,727,605	T1862A	probably benign	Het
Psd2	A	G	18: 36,006,691	D596G	possibly damaging	Het
Psmc3	T	C	2: 91,058,088	F315L	probably benign	Het
Rerg	G	A	6: 137,057,880	T42I	probably benign	Het
Rif1	T	A	2: 52,093,576	M577K	probably damaging	Het
Sap30	T	C	8: 57,487,248		probably null	Het
Scn2b	T	C	9: 45,125,517	Y108H	probably damaging	Het
Senp2	C	T	16: 22,014,199	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,523,813	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,416,951	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,810,941	W320R	probably damaging	Het
Soga1	C	T	2: 157,022,827	G1154S	probably benign	Het
Tgm4	T	C	9: 123,061,770	I54T	probably damaging	Het
Thbs4	T	A	13: 92,790,879	D34V	probably benign	Het
Tmem176b	G	A	6: 48,836,333	T64I	probably damaging	Het
Tmem56	T	G	3: 121,207,421	I188L	probably benign	Het
Tmod2	T	C	9: 75,577,242	E248G	probably benign	Het
Ttc6	T	A	12: 57,737,693	D1849E	probably benign	Het
Ttn	T	C	2: 76,785,538	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,640,552	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,584,695	D321E	probably damaging	Het

Other mutations in Cntln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Cntln	APN	4	85006434	missense	probably benign	0.25
IGL00743:Cntln	APN	4	84979415	missense	probably benign	0.06
IGL01014:Cntln	APN	4	85049908	missense	probably benign	0.25
IGL02217:Cntln	APN	4	85100258	missense	probably damaging	1.00
IGL02323:Cntln	APN	4	85049789	missense	probably benign	0.00
IGL02353:Cntln	APN	4	85049850	missense	probably damaging	0.98
IGL02360:Cntln	APN	4	85049850	missense	probably damaging	0.98
IGL02616:Cntln	APN	4	85115452	critical splice donor site	probably null
PIT4696001:Cntln	UTSW	4	84974000	missense	probably damaging	0.99
R0110:Cntln	UTSW	4	85096757	missense	probably damaging	1.00
R0324:Cntln	UTSW	4	85092695	missense	probably damaging	0.98
R0349:Cntln	UTSW	4	84996485	missense	probably damaging	1.00
R0519:Cntln	UTSW	4	85005053	splice site	probably benign
R0529:Cntln	UTSW	4	85067825	missense	probably damaging	1.00
R0582:Cntln	UTSW	4	84884741	missense	probably damaging	1.00
R1077:Cntln	UTSW	4	84996479	missense	probably damaging	1.00
R1345:Cntln	UTSW	4	84973991	missense	probably damaging	1.00
R1457:Cntln	UTSW	4	85096839	missense	probably benign	0.33
R1571:Cntln	UTSW	4	84947586	nonsense	probably null
R1622:Cntln	UTSW	4	85063181	missense	probably damaging	1.00
R1681:Cntln	UTSW	4	84947635	missense	probably damaging	1.00
R1777:Cntln	UTSW	4	85130679	missense	probably benign	0.23
R1808:Cntln	UTSW	4	85096763	missense	probably damaging	1.00
R1882:Cntln	UTSW	4	85100835	missense	probably damaging	1.00
R2965:Cntln	UTSW	4	84974027	critical splice donor site	probably null
R2968:Cntln	UTSW	4	84957267	missense	probably benign	0.27
R3104:Cntln	UTSW	4	84957169	missense	possibly damaging	0.95
R3106:Cntln	UTSW	4	84957169	missense	possibly damaging	0.95
R3121:Cntln	UTSW	4	85005052	splice site	probably benign
R3617:Cntln	UTSW	4	85004977	nonsense	probably null
R4009:Cntln	UTSW	4	85063215	missense	probably benign	0.45
R4036:Cntln	UTSW	4	85006488	missense	probably damaging	1.00
R4548:Cntln	UTSW	4	85096842	missense	probably benign	0.27
R4592:Cntln	UTSW	4	84971182	missense	probably benign	0.00
R4666:Cntln	UTSW	4	84971216	missense	probably benign	0.13
R4826:Cntln	UTSW	4	85005044	missense	probably benign	0.03
R4836:Cntln	UTSW	4	85049720	nonsense	probably null
R4856:Cntln	UTSW	4	84971229	missense	probably benign	0.35
R4886:Cntln	UTSW	4	84971229	missense	probably benign	0.35
R4995:Cntln	UTSW	4	85049883	missense	probably benign	0.00
R5090:Cntln	UTSW	4	84947593	missense	probably damaging	0.98
R5202:Cntln	UTSW	4	84971229	missense	probably benign	0.35
R5905:Cntln	UTSW	4	84971173	missense	probably benign	0.03
R5953:Cntln	UTSW	4	85049919	missense	possibly damaging	0.92
R6028:Cntln	UTSW	4	84971173	missense	probably benign	0.03
R6298:Cntln	UTSW	4	85096761	missense	probably damaging	1.00
R6351:Cntln	UTSW	4	85115354	missense	probably damaging	0.99
R6371:Cntln	UTSW	4	84884579	missense	probably damaging	0.98
R6481:Cntln	UTSW	4	85067510	missense	probably benign	0.00
R6864:Cntln	UTSW	4	85096792	missense	probably damaging	0.99
R6874:Cntln	UTSW	4	85067759	missense	probably damaging	1.00
R6919:Cntln	UTSW	4	85115368	missense	probably benign	0.04
R7071:Cntln	UTSW	4	85100385	missense	probably damaging	1.00
R7113:Cntln	UTSW	4	85049827	missense	probably damaging	0.98
R7152:Cntln	UTSW	4	84884700	missense	possibly damaging	0.87
R7253:Cntln	UTSW	4	85118473	missense	probably damaging	1.00
R7289:Cntln	UTSW	4	85046303	missense	possibly damaging	0.80
R7440:Cntln	UTSW	4	85063216	missense	possibly damaging	0.95
R7670:Cntln	UTSW	4	84979340	missense	possibly damaging	0.66
R7707:Cntln	UTSW	4	84884616	missense	probably damaging	1.00
R7895:Cntln	UTSW	4	85063324	missense	possibly damaging	0.91
R8176:Cntln	UTSW	4	84888689	missense	probably damaging	0.99
R8247:Cntln	UTSW	4	85100780	missense	probably benign	0.39
R8264:Cntln	UTSW	4	85098411	missense	probably damaging	1.00
R8293:Cntln	UTSW	4	85033838	missense	probably damaging	1.00
R8536:Cntln	UTSW	4	84957049	missense	probably damaging	1.00
R8844:Cntln	UTSW	4	84973997	missense	probably damaging	1.00
R8924:Cntln	UTSW	4	84888699	missense	probably damaging	1.00
R8955:Cntln	UTSW	4	85067873	missense	possibly damaging	0.85
R8960:Cntln	UTSW	4	85100724	missense	possibly damaging	0.59
R8979:Cntln	UTSW	4	85130673	missense	probably damaging	1.00
R9255:Cntln	UTSW	4	85100866	missense	possibly damaging	0.93
R9314:Cntln	UTSW	4	85006482	missense	probably damaging	1.00
R9353:Cntln	UTSW	4	84884360	unclassified	probably benign
R9361:Cntln	UTSW	4	85049914	missense	probably benign	0.23
R9376:Cntln	UTSW	4	84957021	missense	probably benign	0.24
R9382:Cntln	UTSW	4	85050081	missense	probably benign	0.13
R9471:Cntln	UTSW	4	85049782	missense	possibly damaging	0.62
R9478:Cntln	UTSW	4	84979393	missense	probably benign	0.00
R9527:Cntln	UTSW	4	84973883	missense	probably damaging	1.00
R9788:Cntln	UTSW	4	85049856	missense	probably damaging	1.00
R9793:Cntln	UTSW	4	85067561	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTGAGATTCACTGTGTCC -3'
(R):5'- TTGCCTCTCAAAGCCTTAGC -3'

Sequencing Primer
(F):5'- CACTGTGTCCTTGTGCTAAATGGAAC -3'
(R):5'- ACTTGTCTCCTCAGGGTAGTGAC -3'

Posted On

2014-09-17