Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Cntln'

564057

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

045314-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85118473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 214 (N214I)

Ref Sequence

ENSEMBL: ENSMUSP00000102808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000107190] [ENSMUST00000169371]

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: N1349I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: N1349I

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 damaging
Transcript: ENSMUST00000107190
AA Change: N214I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: N214I

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
Blast:HisKA	135	191	8e-27	BLAST
low complexity region	192	213	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169371
AA Change: N1348I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: N1348I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391	H199R	not run	Het
Ak9	A	G	10: 41,432,484	N1804S	unknown	Het
Akr1c21	C	A	13: 4,577,140	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,215,934	T30A	probably benign	Het
Alox15	T	C	11: 70,345,898	D447G	probably damaging	Het
Amigo2	T	C	15: 97,245,075	I489V	probably benign	Het
Ano9	A	T	7: 141,107,437	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,547,656	W583L	probably benign	Het
Atxn2	A	G	5: 121,778,021	E430G	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,528	V425E	probably benign	Het
Brip1	T	C	11: 86,143,278	Y539C	possibly damaging	Het
C87436	T	A	6: 86,465,808	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868	Y227D	probably benign	Het
Ccdc151	T	C	9: 22,002,471	T2A	probably damaging	Het
Chd4	T	A	6: 125,106,592		probably null	Het
Chrna10	A	G	7: 102,112,086	C433R	probably benign	Het
Colec12	G	A	18: 9,848,922	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,996	I222T	probably benign	Het
Dagla	A	T	19: 10,262,581		probably null	Het
Dcaf7	C	A	11: 106,047,843		probably null	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
E2f7	A	G	10: 110,766,303		probably null	Het
Fam184a	G	T	10: 53,698,805	T236K	probably benign	Het
Fam46a	C	A	9: 85,326,717	G18C	probably benign	Het
Glyctk	T	C	9: 106,155,462	T451A	probably damaging	Het
Hectd4	A	G	5: 121,314,881	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,817,230	C243F	unknown	Het
Hspg2	A	C	4: 137,519,946	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,655,108	L48F	probably benign	Het
Jazf1	C	A	6: 52,777,652	E146D	probably benign	Het
Katnb1	C	T	8: 95,095,497	Q284*	probably null	Het
Kctd18	G	T	1: 57,961,956	Y213*	probably null	Het
Klk1b26	T	C	7: 44,014,789	S23P	possibly damaging	Het
Krt88	T	C	15: 101,450,511	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,481,656	V623I	probably benign	Het
Map3k4	T	A	17: 12,272,068	M159L	probably benign	Het
Mast3	C	A	8: 70,789,682		probably null	Het
Mier1	G	A	4: 103,139,347		probably null	Het
Mrpl46	T	C	7: 78,781,459	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,520,396	S20G	probably benign	Het
Mup10	A	T	4: 60,582,078	M4K	unknown	Het
Nlrp5	C	T	7: 23,417,391	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,264,704		probably null	Het
Olfr1195	T	C	2: 88,683,625	T36A	possibly damaging	Het
Olfr313	T	A	11: 58,817,540	C177*	probably null	Het
Olfr315	T	C	11: 58,778,996	Y290H	probably damaging	Het
Olfr437	T	C	6: 43,167,810	F251L	probably damaging	Het
Olfr612	C	T	7: 103,538,788	A149T	probably benign	Het
Olfr992	A	G	2: 85,399,639	I298T	probably benign	Het
Otud1	C	A	2: 19,658,931	D290E	probably damaging	Het
Pank4	A	G	4: 154,970,920	N249S	probably benign	Het
Pccb	G	T	9: 101,031,913	S84R	probably benign	Het
Pemt	A	T	11: 59,971,255	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,765,858	I634T	possibly damaging	Het
Pias2	T	G	18: 77,120,115	I232R	probably damaging	Het
Plce1	A	G	19: 38,698,508	E620G	probably damaging	Het
Ptpn13	G	A	5: 103,565,284	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,608,273	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,224,947	M296I	probably benign	Het
R3hdm2	C	T	10: 127,481,775	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,699,721	E258G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,915		probably benign	Het
Senp8	T	C	9: 59,737,195	N226S	probably benign	Het
Six5	C	T	7: 19,094,976	R114C	probably damaging	Het
Slc10a1	T	C	12: 80,958,184	T195A	probably benign	Het
Slpi	G	T	2: 164,355,547	Q51K	probably benign	Het
Smarca4	T	C	9: 21,658,960	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,198,441	M225I	probably benign	Het
Tnfrsf21	G	A	17: 43,037,667	V57I	probably benign	Het
Trim44	G	T	2: 102,346,968	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,827,885	I264V	probably damaging	Het
Wisp3	T	G	10: 39,155,035	N164T	probably benign	Het
Xirp2	A	C	2: 67,513,482	E2022D	probably benign	Het
Zfp975	A	G	7: 42,661,612	*526R	probably null	Het
Zp1	A	G	19: 10,916,569	L424P	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
R2056:Cntln	UTSW	4	85049674	missense	probably benign
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
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'- CTATCTGGAGCCACACTGTG -3'
(R):5'- GCTAACTTTACCACTGACCCAG -3'

Sequencing Primer
(F):5'- GAAGAGATGGGTCACTCT -3'
(R):5'- AGGGGATGCTTCTTCACCTAACAG -3'

Posted On

2019-06-26