Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Cntln'

709609

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R9376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84957021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 231 (S231G)

Ref Sequence

ENSEMBL: ENSMUSP00000099883 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably benign
Transcript: ENSMUST00000047023
AA Change: S231G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: S231G

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: ENSMUST00000102819
AA Change: S231G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: S231G

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 benign
Transcript: ENSMUST00000169371
AA Change: S231G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: S231G

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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 120,294,215	L1296H	probably damaging	Het
Abcb4	A	T	5: 8,958,988	D1215V	probably damaging	Het
Ache	A	C	5: 137,290,763	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,282,222	V58D	probably damaging	Het
Ano3	A	G	2: 110,666,437	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,972,464	V129A	probably damaging	Het
Cldn11	T	C	3: 31,163,261	S193P	possibly damaging	Het
Clpb	A	T	7: 101,711,418	R218S	probably benign	Het
Cntn4	T	C	6: 106,662,630	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,781,801	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,984,768	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,638,734	N217K	probably damaging	Het
Dao	T	A	5: 114,009,840	M1K	probably null	Het
Dchs1	A	G	7: 105,765,774		probably null	Het
Dennd4a	A	T	9: 64,912,692	I1809L	probably benign	Het
Dnah7a	T	A	1: 53,528,899		probably null	Het
Epn1	A	T	7: 5,083,721		probably benign	Het
Erich1	A	G	8: 14,030,719	S267P	probably damaging	Het
Gm17732	G	T	18: 62,662,865	V41L	probably damaging	Het
Gpaa1	C	A	15: 76,334,626	T556K	possibly damaging	Het
Gpr65	T	A	12: 98,275,264	S59T	probably damaging	Het
Hydin	T	C	8: 110,398,063	V568A	possibly damaging	Het
Ifi205	T	C	1: 174,026,655	D144G	probably benign	Het
Itga1	T	C	13: 114,970,576	H993R	probably benign	Het
Itgax	T	C	7: 128,148,763	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,349,677	V120E	probably damaging	Het
Kdm3b	T	C	18: 34,837,665	S1762P	probably damaging	Het
Krt80	T	A	15: 101,350,097	T221S	unknown	Het
Lama2	T	C	10: 27,118,624	D1763G	probably benign	Het
Lrp5	T	C	19: 3,620,286	D606G	probably benign	Het
Map6d1	T	C	16: 20,241,183	D44G	probably benign	Het
Mtmr11	T	A	3: 96,165,055	I282K	probably benign	Het
Nalcn	G	A	14: 123,278,301	T1696M	possibly damaging	Het
Nup214	T	C	2: 32,034,232	V1591A	probably benign	Het
Oas1f	C	A	5: 120,848,180	Y65*	probably null	Het
Olfr1375	T	A	11: 51,048,835	C243S	probably damaging	Het
Olfr224	T	A	11: 58,566,857	T163S	possibly damaging	Het
Olfr325	T	C	11: 58,581,810	V322A	probably benign	Het
Olfr482	A	T	7: 108,095,264	I102K	possibly damaging	Het
Olfr585	A	T	7: 103,097,764	T8S	probably benign	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pigyl	A	G	9: 22,158,028	I12V	probably benign	Het
Pno1	A	T	11: 17,208,791	D202E	probably benign	Het
Ppp5c	A	T	7: 17,009,924	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,150,622	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,144,618	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,339,166	Y140C	probably damaging	Het
Runx1t1	A	G	4: 13,865,225	E339G	possibly damaging	Het
Scube3	G	T	17: 28,164,696	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,905,658	M313K	probably benign	Het
Tcaim	T	C	9: 122,826,930	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,011,882	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,017,896	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,027,991	A102S	probably benign	Het
Trim10	A	T	17: 36,873,276	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987	T9A	probably benign	Het
Tshz2	G	A	2: 169,884,093	S203N	probably benign	Het
Zc3h13	G	A	14: 75,323,688	V573I	unknown	Het
Zfhx4	A	G	3: 5,241,773	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,400,335	D1876G	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
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
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'- ACCTGCATGAAAAGAGGGCC -3'
(R):5'- TCTTATATTCGGCTGCTGTAAGAAG -3'

Sequencing Primer
(F):5'- CCGATAAAGTACACAGGTGACCTTG -3'
(R):5'- GACAGCTCATGGACACAGGTC -3'

Posted On

2022-04-18