Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Cntln'

638783

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85033838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 639 (D639G)

Ref Sequence

ENSEMBL: ENSMUSP00000044138 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: D639G

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

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: D639G

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: ENSMUST00000169371
AA Change: D639G

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

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: D639G

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: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,002	S105P	possibly damaging	Het
4930539E08Rik	T	C	17: 28,902,890	K468E	probably benign	Het
A430105I19Rik	T	A	2: 118,761,315	T115S	probably damaging	Het
Acsm1	T	G	7: 119,638,096	S211A	possibly damaging	Het
Adam4	T	A	12: 81,420,411	R479*	probably null	Het
Agap3	A	C	5: 24,487,885	S439R	probably damaging	Het
Arap1	A	T	7: 101,400,934	H1075L	probably benign	Het
Arhgef28	T	C	13: 97,942,521	E1299G	probably benign	Het
Cc2d2a	A	T	5: 43,688,228	I329F	probably damaging	Het
Cd200r1	A	G	16: 44,789,721	N101S	probably benign	Het
Ces2b	A	C	8: 104,832,626	T40P	unknown	Het
Cfap221	A	G	1: 119,981,774	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,928,218	P324S	probably benign	Het
Chrna1	T	A	2: 73,570,506	M227L	probably benign	Het
Cts8	A	G	13: 61,254,068	V5A	probably benign	Het
Cxcl2	A	T	5: 90,904,229	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,563,967	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,108,780	S205T	probably benign	Het
Dagla	A	T	19: 10,252,037		probably null	Het
Dtnbp1	G	A	13: 44,931,139	T175I	probably benign	Het
Dtx3	A	G	10: 127,191,013	L332P	probably damaging	Het
E2f4	A	G	8: 105,297,819	T27A	probably damaging	Het
Ep400	A	G	5: 110,708,892	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fbxo40	T	C	16: 36,970,025	D241G	probably benign	Het
Fus	T	C	7: 127,972,577	S184P	unknown	Het
Gabarap	C	A	11: 69,992,672	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,224,369	V175G	probably damaging	Het
Gcm2	A	G	13: 41,103,170	Y368H	probably damaging	Het
Heca	A	G	10: 17,902,263	Y529H	probably damaging	Het
Incenp	G	A	19: 9,875,133	R714*	probably null	Het
Lvrn	C	A	18: 46,850,565	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,478,296	S156R	probably benign	Het
Nab2	C	A	10: 127,666,397	R21L	possibly damaging	Het
Neb	A	T	2: 52,246,815	M3218K	probably benign	Het
Nwd2	A	G	5: 63,805,320	D749G	probably benign	Het
Nxpe5	A	T	5: 138,230,542	Q7L	probably benign	Het
Olfr1318	A	T	2: 112,156,253	M101L	probably benign	Het
Olfr1335	T	A	4: 118,809,742	T41S	probably benign	Het
Olfr481	A	T	7: 108,081,062	E89D	probably benign	Het
Olfr943	A	G	9: 39,184,393	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,804,606	I29T	probably damaging	Het
Prpf31	C	T	7: 3,640,918	T499I	probably damaging	Het
Rnf130	T	A	11: 50,095,796	D322E	probably benign	Het
Ros1	T	C	10: 52,087,918	N1770D	probably damaging	Het
Sacs	T	A	14: 61,191,099	D202E	probably damaging	Het
Simc1	A	G	13: 54,526,546	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,540,978	M77L	probably benign	Het
Slc35f2	G	A	9: 53,816,940	G366D	probably benign	Het
Slc44a2	A	G	9: 21,353,688	D674G	probably damaging	Het
Smok2a	A	C	17: 13,226,904	E456A	probably benign	Het
Stip1	T	C	19: 7,034,250	N139S	probably benign	Het
Taar8c	C	T	10: 24,101,117	V266M	probably benign	Het
Tank	T	A	2: 61,644,414	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,560,955	T714A	probably benign	Het
Tenm3	A	T	8: 48,367,422	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,862,721	I1735V	probably benign	Het
Vps13a	A	T	19: 16,668,605	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,974,261	H2741R		Het
Wnt10a	G	T	1: 74,803,217	R284L	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
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
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'- GCATTTGTTACAGTGCAGTTGATAG -3'
(R):5'- CTCAAAGTGGGATGTTTAGGAGTTC -3'

Sequencing Primer
(F):5'- ACAGTGCAGTTGATAGTTTGTAC -3'
(R):5'- GTTGCATTTCATTTTCTCATGAGAC -3'

Posted On

2020-07-28