Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Cntln'

634336

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 #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84888689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 136 (T136I)

Ref Sequence

ENSEMBL: ENSMUSP00000099883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000102819] [ENSMUST00000169371]

AlphaFold

A2AM05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047023
AA Change: T136I

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: T136I

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: ENSMUST00000102819
AA Change: T136I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: T136I

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
coiled coil region	166	277	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169371
AA Change: T136I

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: T136I

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: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,185,136	F172I	noncoding transcript	Het
A26c2	T	C	7: 62,783,035		probably null	Het
Aatk	A	G	11: 120,016,415	V154A	probably damaging	Het
Abca6	A	C	11: 110,244,194	V255G	probably benign	Het
Adam8	T	C	7: 139,988,873	K211E	probably benign	Het
Alg12	A	G	15: 88,805,881	V470A	possibly damaging	Het
Anks1b	C	A	10: 90,069,491	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,712,798	Y28C	probably damaging	Het
Bms1	G	T	6: 118,418,450	F45L	probably damaging	Het
Btd	T	A	14: 31,662,116	F20I	probably benign	Het
C1rl	T	C	6: 124,493,885	S51P	probably benign	Het
Capn7	C	A	14: 31,347,772	F184L	probably benign	Het
Cd300lg	A	T	11: 102,041,564		probably benign	Het
Cdc34	T	C	10: 79,682,528	Y39H	probably damaging	Het
Cenpe	A	G	3: 135,230,090	K429E	probably damaging	Het
Cfap43	T	C	19: 47,795,675	N473S	probably benign	Het
Cyfip1	A	T	7: 55,924,427	L1032F	probably benign	Het
Dach1	C	T	14: 97,916,480	V392I	probably benign	Het
Dnah14	C	T	1: 181,657,033	S1590L	probably damaging	Het
Dsp	T	C	13: 38,192,810	Y1524H	possibly damaging	Het
Dusp13	T	C	14: 21,747,481	I103V	possibly damaging	Het
Efhb	T	C	17: 53,400,846	Y763C	probably damaging	Het
Fam102a	A	G	2: 32,563,612	T158A	probably benign	Het
Fam117a	G	T	11: 95,337,139	R25L	unknown	Het
Fcgbp	T	C	7: 28,091,749	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,987,984	N399K	probably benign	Het
Foxi3	T	A	6: 70,957,033	I168N	probably damaging	Het
Frem2	A	T	3: 53,655,340	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,670,970	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,570,417		probably null	Het
Hecw1	A	T	13: 14,247,701		probably null	Het
Hsf2	T	A	10: 57,505,194	Y293*	probably null	Het
Ints10	T	A	8: 68,802,951	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,094,650	E399G	probably damaging	Het
Itsn1	T	A	16: 91,848,709		probably null	Het
Kcnh8	T	C	17: 52,978,094	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,706,561	T279A	probably benign	Het
Ly6a	C	T	15: 74,996,451		probably null	Het
March4	T	C	1: 72,534,839	E100G	probably damaging	Het
Mta1	A	G	12: 113,120,836	E84G	probably benign	Het
Myh7b	A	G	2: 155,625,966	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,267,858	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,236,151	S428P	probably damaging	Het
Olfr1408	C	T	1: 173,130,816	V134I	probably benign	Het
Olfr603	G	A	7: 103,383,864	T46I	probably benign	Het
Olfr774	T	G	10: 129,238,878	M243R	probably benign	Het
Onecut2	A	T	18: 64,340,860	T161S	possibly damaging	Het
Pdp2	A	G	8: 104,595,055	D512G	probably damaging	Het
Pex11b	G	T	3: 96,643,711	V171L	probably benign	Het
Ppil3	A	T	1: 58,440,919	C32*	probably null	Het
Prune2	T	C	19: 17,118,292	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,955,648	H518N	possibly damaging	Het
Rhot2	T	C	17: 25,844,094	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,535,411	H271N	probably damaging	Het
Sgol2a	A	G	1: 58,017,093	D812G	possibly damaging	Het
Skap2	T	C	6: 51,907,898	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,717,303	N755S	probably benign	Het
Stat5a	T	A	11: 100,876,863	M419K	probably damaging	Het
Tecta	C	T	9: 42,359,169	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,137,501	S196R	probably benign	Het
Trpm8	A	T	1: 88,365,115	H946L	probably benign	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
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'- ACATTAGAGTGTAGGCTTTCAGTG -3'
(R):5'- TTGTGCTTGACAGTCACTTAGAAG -3'

Sequencing Primer
(F):5'- GAAGAGCGCCAAGTGTTCTTATCC -3'
(R):5'- AAGTAAATCAATCTTTTGGGGGCG -3'

Posted On

2020-07-13