Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Cntln'

594325

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 #

R7707 (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 84884616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 51 (D51V)

Ref Sequence

ENSEMBL: ENSMUSP00000099883 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: D51V

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

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: D51V

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: D51V

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

SMART Domains

Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: D51V

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

probably damaging
Transcript: ENSMUST00000169371
AA Change: D51V

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

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: D51V

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

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610044O15Rik8	A	T	8: 129,219,179	C388*	probably null	Het
2900026A02Rik	T	A	5: 113,137,986	M1L	probably benign	Het
Ap1s3	T	C	1: 79,614,247	K129E	probably benign	Het
Ap3b2	C	T	7: 81,476,782	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,443,098	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968	H401R	probably benign	Het
Bpi	A	T	2: 158,261,173	E79D	probably benign	Het
Cant1	C	T	11: 118,410,898	V198M	possibly damaging	Het
Casp9	C	T	4: 141,805,467	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,857,469	R82L	probably benign	Het
Chrm4	A	G	2: 91,927,354	T36A	probably benign	Het
Commd8	A	T	5: 72,162,738	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,516,314	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,952,865	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,118,958	V701A	probably damaging	Het
Efcab9	A	G	11: 32,522,851	Y199H	possibly damaging	Het
Endou	T	A	15: 97,713,102		probably null	Het
Fam160a1	A	G	3: 85,676,253	V412A	probably benign	Het
Foxc2	C	T	8: 121,117,902	P430S	probably benign	Het
Gas2l3	T	A	10: 89,414,358	K299N	probably damaging	Het
Gm10375	G	A	14: 43,604,875	Q133*	probably null	Het
Gorab	T	C	1: 163,392,440	D211G	probably damaging	Het
Grin3b	T	A	10: 79,975,901	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,511,286		probably benign	Het
Gucy2d	T	C	7: 98,451,669	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,733,959	V55M		Het
Igsf3	A	G	3: 101,459,922	N1157S	probably benign	Het
Irak3	A	T	10: 120,146,584	D324E	probably damaging	Het
Jup	G	T	11: 100,383,052	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Lgr4	A	G	2: 109,997,591		probably null	Het
Lrrc34	T	C	3: 30,624,892	D352G	probably benign	Het
Metrn	C	A	17: 25,795,410	A175S	probably benign	Het
Nr2c1	T	A	10: 94,188,165	S411T	probably benign	Het
Olfr1206	A	G	2: 88,864,809	D68G	possibly damaging	Het
Olfr190	T	A	16: 59,074,271	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691	K172*	probably null	Het
Oxnad1	A	G	14: 32,102,008		probably null	Het
Pcdh7	A	G	5: 57,720,330	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,011,792	N312I	probably benign	Het
Pds5a	G	T	5: 65,610,133	P121Q	unknown	Het
Phc1	A	G	6: 122,323,780	I380T	unknown	Het
Phldb3	C	A	7: 24,626,597	H535N	possibly damaging	Het
Proser3	T	C	7: 30,539,791	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,296	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,738,147	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,777,292	D268Y	probably null	Het
Rapgef5	A	C	12: 117,715,344	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,429,129	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,413,122	D982V	probably damaging	Het
Sbf2	T	C	7: 110,330,713		probably null	Het
Serping1	A	T	2: 84,773,699		probably null	Het
Shank1	C	T	7: 44,344,301	S798F	unknown	Het
Slc15a5	A	T	6: 138,079,747	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,403,123	C284*	probably null	Het
Src	G	A	2: 157,464,658	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,483,654	T84A	probably damaging	Het
Sspo	A	T	6: 48,461,527	T1510S	probably benign	Het
Taar1	A	T	10: 23,921,237	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,404,429	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,224,900	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 98,890,787	T7A	probably benign	Het
Traf7	A	T	17: 24,510,709		probably null	Het
Trbv19	G	A	6: 41,178,613	V9I	possibly damaging	Het
Trim17	C	T	11: 58,965,284	Q56*	probably null	Het
Ttn	G	T	2: 76,902,062	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,081,508		probably null	Het
Uso1	A	G	5: 92,201,936	*960W	probably null	Het
Usp2	G	T	9: 44,073,460		probably null	Het
Wdr20rt	A	G	12: 65,226,207	D148G	probably damaging	Het
Wdr66	A	T	5: 123,253,887	E28V	probably benign	Het
Wif1	T	C	10: 121,083,959	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645	D750G	probably benign	Het
Zmynd12	A	T	4: 119,444,866	D234V	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
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'- GGAGTTTTCAAGCGGGAACTTG -3'
(R):5'- CCAGTCCTGATACCTGACAC -3'

Sequencing Primer
(F):5'- AACTTGACCCGTTAGGCG -3'
(R):5'- AGGGCCAGCTCCTCCTTTAG -3'

Posted On

2019-11-12