Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Cntln'

535794

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85096792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1107 (S1107P)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: S1108P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: S1108P

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: ENSMUST00000107190

SMART Domains

Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070

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: S1107P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: S1107P

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: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,478,879	T875I	probably damaging	Het
Anln	A	T	9: 22,382,249	S33T	probably benign	Het
Anxa6	T	C	11: 54,986,185	T541A	probably benign	Het
Atxn2	C	T	5: 121,779,494	R334W	probably damaging	Het
AU040320	T	A	4: 126,847,819	V940D	probably damaging	Het
Bcl2	A	T	1: 106,543,281	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,940,062	V3A	probably benign	Het
Calr	A	T	8: 84,844,928	H145Q	probably damaging	Het
Camta2	T	A	11: 70,671,966	T976S	probably benign	Het
Ccnk	G	A	12: 108,202,214		probably benign	Het
Cradd	T	C	10: 95,175,927	D117G	probably damaging	Het
Dcaf7	C	T	11: 106,046,821	T90I	probably damaging	Het
Defb30	T	A	14: 63,036,103		probably null	Het
Dock4	T	A	12: 40,745,746	I854N	probably damaging	Het
Dym	T	A	18: 75,056,738	Y132*	probably null	Het
Eef1a2	T	C	2: 181,149,684	T341A	probably benign	Het
Eml2	T	C	7: 19,196,281	V309A	probably damaging	Het
Fam208a	T	A	14: 27,461,158	F525I	probably damaging	Het
Flnb	C	T	14: 7,905,640	P1130L	possibly damaging	Het
Hivep3	C	A	4: 120,094,888	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,780,026	K242*	probably null	Het
Kel	A	G	6: 41,703,760		probably null	Het
Lcorl	T	A	5: 45,747,204	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,443,499		probably benign	Het
Mcm3ap	A	G	10: 76,507,479	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,253,178		probably null	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Mylk	C	A	16: 34,874,150	P193Q	probably benign	Het
Olfr1275	C	T	2: 111,231,197	V199I	probably benign	Het
Olfr1388	G	T	11: 49,443,940	A30S	probably benign	Het
Olfr1390	A	T	11: 49,340,753	T74S	probably damaging	Het
Olfr1424	A	T	19: 12,059,413	F113Y	probably damaging	Het
Olfr339	T	A	2: 36,421,820	C141S	probably damaging	Het
Otogl	C	T	10: 107,827,806	S968N	probably damaging	Het
Oxr1	T	G	15: 41,823,387	V555G	probably damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Peg3	T	C	7: 6,712,762	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,617,999	V1408A	probably benign	Het
Prkacb	T	C	3: 146,745,378	Y204C	probably damaging	Het
Prkch	A	G	12: 73,759,617	E546G	probably damaging	Het
Prss12	C	A	3: 123,447,384	H76N	probably benign	Het
Rai14	G	T	15: 10,633,168	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750	D837V	probably benign	Het
Slc22a6	G	T	19: 8,618,441	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,721,725	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,318,853	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,448,805		probably null	Het
Tktl2	T	C	8: 66,512,339	I183T	probably damaging	Het
Tmem175	A	C	5: 108,645,979	H325P	probably damaging	Het
Tns3	A	G	11: 8,493,196	V389A	probably damaging	Het
Trappc9	A	T	15: 72,937,162		probably null	Het
Trim28	T	A	7: 13,029,458	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 22,827,543	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,779,158	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,568,515	L492P	probably damaging	Het
Zfp831	C	A	2: 174,646,740	N1069K	possibly damaging	Het
Zfp943	T	A	17: 21,992,612	H226Q	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
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'- ATGCTCCTCTATGGTCTGGC -3'
(R):5'- GCAACTAGATTGTCGTAAATCATGC -3'

Sequencing Primer
(F):5'- CCTCTATGGTCTGGCATGCTG -3'
(R):5'- TCCTTAAAATTCCATCTTATGTTGGC -3'

Posted On

2018-10-18