Mutagenetix > Incidental Mutation

Incidental Mutation 'R8960:Cntln'

682267

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

Accession Numbers

Essential gene?

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

Stock #

R8960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85100724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1217 (M1217K)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably benign
Transcript: ENSMUST00000047023
AA Change: M1218K

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: M1218K

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
AA Change: M83K

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: M83K

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

possibly damaging
Transcript: ENSMUST00000169371
AA Change: M1217K

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: M1217K

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: 99.9%
20x: 99.7%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,012,983	E3548G	probably damaging	Het
Abcg4	G	A	9: 44,274,766	Q603*	probably null	Het
Adar	A	G	3: 89,740,209	Y165C	probably damaging	Het
Afp	A	G	5: 90,503,641	T372A	probably benign	Het
Asah1	T	A	8: 41,347,024	L184F	probably damaging	Het
Bpifb2	A	T	2: 153,889,126	I206F	possibly damaging	Het
Btn1a1	C	A	13: 23,464,571	D31Y	possibly damaging	Het
C4b	T	A	17: 34,733,918	D1110V	probably damaging	Het
Ccdc162	T	A	10: 41,553,182	D1901V	probably damaging	Het
Cd101	A	G	3: 101,003,501	V947A	probably benign	Het
Cd55b	A	T	1: 130,410,638	S238T	possibly damaging	Het
Cdc25c	T	C	18: 34,733,276	I437V	possibly damaging	Het
Cfap97	T	C	8: 46,170,568	S332P	probably damaging	Het
Chpf	A	G	1: 75,475,754	L352P	probably damaging	Het
Cntrl	A	G	2: 35,162,041	E1629G	possibly damaging	Het
Csnk1g2	T	C	10: 80,638,562	Y206H	probably damaging	Het
Cyp2c55	T	A	19: 39,007,103	W20R	probably null	Het
Dhx35	A	T	2: 158,815,473	H130L	possibly damaging	Het
Dnm1	A	G	2: 32,312,729	V54A	probably damaging	Het
Eea1	T	A	10: 96,028,519	S967T	probably benign	Het
Elf3	A	T	1: 135,255,075	I304N	probably damaging	Het
Eps8l1	G	T	7: 4,478,215	R672L	probably damaging	Het
Fam129a	A	T	1: 151,715,712	H535L	possibly damaging	Het
Fam163a	A	T	1: 156,079,116	C96*	probably null	Het
Fam198b	T	C	3: 79,886,986	S254P	probably benign	Het
Fancd2	T	C	6: 113,563,168		probably null	Het
Fbxo3	C	T	2: 104,027,929	L23F	possibly damaging	Het
Fbxw14	A	G	9: 109,285,299	V121A	possibly damaging	Het
Fgd6	T	A	10: 94,045,006	V574D	probably benign	Het
Gbp11	A	G	5: 105,331,385	F124S	probably damaging	Het
Gm11639	A	G	11: 104,929,946		probably benign	Het
Grin1	A	T	2: 25,305,416		probably benign	Het
Grm2	T	G	9: 106,654,146	E48A	probably benign	Het
H2-M10.5	T	A	17: 36,773,878	Y165N	probably benign	Het
Hoxa13	A	C	6: 52,259,996	S172A	probably benign	Het
Ifih1	T	A	2: 62,611,891	K376N	possibly damaging	Het
Insrr	C	A	3: 87,813,079	T1008K	probably damaging	Het
Itih1	A	G	14: 30,933,457	S594P	probably damaging	Het
Kidins220	T	C	12: 25,056,915	S1365P	probably benign	Het
Malrd1	A	T	2: 15,565,430	K158*	probably null	Het
Man2c1	G	A	9: 57,137,995	G504R	probably damaging	Het
Mbd1	T	C	18: 74,273,819		probably null	Het
Micall2	G	A	5: 139,716,270	A323V	probably benign	Het
Mroh9	A	C	1: 163,055,627	F428V	probably benign	Het
Myo7b	T	A	18: 31,994,246		probably benign	Het
Obscn	A	T	11: 59,031,612	V6567E	probably damaging	Het
Olfr117	T	A	17: 37,659,869	T155S	probably benign	Het
Olfr1389	A	T	11: 49,430,716	Q80L	probably benign	Het
Olfr193	T	A	16: 59,110,192	R139S	probably benign	Het
Olfr388-ps1	A	C	11: 73,724,404	S207A	unknown	Het
Olfr393	A	T	11: 73,847,341	C261*	probably null	Het
Olfr920	A	T	9: 38,756,089	I134F	possibly damaging	Het
Pde4dip	T	C	3: 97,793,148	D238G	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Pgbd5	T	A	8: 124,384,436	Y172F	probably benign	Het
Pkd1	A	G	17: 24,576,202	T2288A	probably damaging	Het
Ppp6r2	T	A	15: 89,253,036	M1K	probably null	Het
Rc3h1	A	G	1: 160,946,594	T344A	probably damaging	Het
Rgs5	T	C	1: 169,676,892	V37A	possibly damaging	Het
Rgs9	A	G	11: 109,248,989	S17P	possibly damaging	Het
Rusc1	T	A	3: 89,084,558	D407V	probably damaging	Het
Rwdd1	T	A	10: 34,019,387	I18F	possibly damaging	Het
Satb2	C	T	1: 56,871,311		probably null	Het
Sds	A	G	5: 120,483,594	E267G	probably damaging	Het
Sema4b	T	A	7: 80,225,328	V822E	probably damaging	Het
Sfxn5	A	T	6: 85,289,194	M107K	probably damaging	Het
Slc5a8	C	T	10: 88,886,173		probably benign	Het
Sorbs1	T	C	19: 40,398,604	D6G	probably damaging	Het
Syt14	A	C	1: 192,984,207		probably benign	Het
Vmn2r124	T	G	17: 18,063,029	Y328*	probably null	Het
Vmn2r86	T	A	10: 130,453,803	E74D	probably benign	Het
Vmo1	A	C	11: 70,513,650	L175W	probably damaging	Het
Vps13a	G	T	19: 16,705,883	L982I	possibly damaging	Het
Wdr19	T	C	5: 65,240,868	V812A	probably benign	Het
Wdr27	T	C	17: 14,883,646	I733V	probably benign	Het
Wdr54	A	T	6: 83,155,757	H38Q	probably damaging	Het
Wdr76	G	A	2: 121,510,623	V50I	probably damaging	Het
Zfp930	T	A	8: 69,227,889	N59K	probably damaging	Het
Zfyve9	T	C	4: 108,644,361	N1218S	possibly 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
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
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'- TACTGTGCCACTACATGAACC -3'
(R):5'- TGGAGGAAAGCAACCTTCAC -3'

Sequencing Primer
(F):5'- TGTGCCACTACATGAACCCTTAG -3'
(R):5'- GGCTCCAACCTTCACAAAGACG -3'

Posted On

2021-08-31