Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Cntln'

531218

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R6371 (G1)

Quality Score

46.0072

Status

Validated

Chromosome

Chromosomal Location

84802546-85050158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84802816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 39 (S39P)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: S39P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: S39P

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: S39P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: S39P

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

0.0714

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,894 (GRCm39)	S237L	probably damaging	Het
Ank3	T	G	10: 69,644,709 (GRCm39)	L58V	probably damaging	Het
Arsb	A	T	13: 93,926,574 (GRCm39)	I115F	possibly damaging	Het
Atad2b	T	C	12: 5,023,970 (GRCm39)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,598,201 (GRCm39)	M515R	probably benign	Het
Cbx7	A	G	15: 79,803,023 (GRCm39)	S30P	possibly damaging	Het
Cdk12	A	G	11: 98,136,114 (GRCm39)	T1123A	unknown	Het
Cep170b	A	G	12: 112,707,379 (GRCm39)	D375G	probably damaging	Het
Clcn3	T	C	8: 61,390,369 (GRCm39)	K164E	probably benign	Het
Clip4	A	C	17: 72,163,459 (GRCm39)	K677T	probably damaging	Het
Clrn2	T	C	5: 45,617,540 (GRCm39)	I137T	possibly damaging	Het
Crocc2	T	A	1: 93,143,353 (GRCm39)	N1318K	probably benign	Het
Emc1	C	T	4: 139,098,976 (GRCm39)	Q820*	probably null	Het
Fbxl2	G	A	9: 113,818,451 (GRCm39)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Garin5b	A	G	7: 4,762,358 (GRCm39)	V257A	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hspg2	T	C	4: 137,269,006 (GRCm39)	Y2213H	probably damaging	Het
Ifnar2	T	C	16: 91,184,986 (GRCm39)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,384,431 (GRCm39)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,781,436 (GRCm39)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,741,666 (GRCm39)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,795,800 (GRCm39)		probably null	Het
Ms4a6b	A	G	19: 11,497,728 (GRCm39)	E9G	probably damaging	Het
Nat3	G	A	8: 67,976,831 (GRCm39)		probably null	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nop58	T	G	1: 59,750,471 (GRCm39)		probably benign	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or8s16	A	G	15: 98,211,219 (GRCm39)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,302,575 (GRCm39)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,356,843 (GRCm39)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,368,230 (GRCm39)	T37I	probably benign	Het
Reln	T	A	5: 22,200,511 (GRCm39)	M1330L	probably benign	Het
Ric1	A	G	19: 29,539,426 (GRCm39)	E53G	probably benign	Het
Sgip1	T	A	4: 102,823,482 (GRCm39)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,850,709 (GRCm39)	D538E	probably benign	Het
Son	T	C	16: 91,471,629 (GRCm39)			Het
Srebf1	A	T	11: 60,094,341 (GRCm39)	S591R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,469,319 (GRCm39)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,845,688 (GRCm39)	V210E	probably benign	Het
Ttc6	T	A	12: 57,775,249 (GRCm39)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,636,131 (GRCm39)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,349,362 (GRCm39)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,040,460 (GRCm39)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 72,643,329 (GRCm39)	Y252N	probably damaging	Het

Other mutations in Cntln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Cntln	APN	4	84,924,671 (GRCm39)	missense	probably benign	0.25
IGL00743:Cntln	APN	4	84,897,652 (GRCm39)	missense	probably benign	0.06
IGL01014:Cntln	APN	4	84,968,145 (GRCm39)	missense	probably benign	0.25
IGL02217:Cntln	APN	4	85,018,495 (GRCm39)	missense	probably damaging	1.00
IGL02323:Cntln	APN	4	84,968,026 (GRCm39)	missense	probably benign	0.00
IGL02353:Cntln	APN	4	84,968,087 (GRCm39)	missense	probably damaging	0.98
IGL02360:Cntln	APN	4	84,968,087 (GRCm39)	missense	probably damaging	0.98
IGL02616:Cntln	APN	4	85,033,689 (GRCm39)	critical splice donor site	probably null
PIT4696001:Cntln	UTSW	4	84,892,237 (GRCm39)	missense	probably damaging	0.99
R0110:Cntln	UTSW	4	85,014,994 (GRCm39)	missense	probably damaging	1.00
R0324:Cntln	UTSW	4	85,010,932 (GRCm39)	missense	probably damaging	0.98
R0349:Cntln	UTSW	4	84,914,722 (GRCm39)	missense	probably damaging	1.00
R0519:Cntln	UTSW	4	84,923,290 (GRCm39)	splice site	probably benign
R0529:Cntln	UTSW	4	84,986,062 (GRCm39)	missense	probably damaging	1.00
R0582:Cntln	UTSW	4	84,802,978 (GRCm39)	missense	probably damaging	1.00
R1077:Cntln	UTSW	4	84,914,716 (GRCm39)	missense	probably damaging	1.00
R1345:Cntln	UTSW	4	84,892,228 (GRCm39)	missense	probably damaging	1.00
R1457:Cntln	UTSW	4	85,015,076 (GRCm39)	missense	probably benign	0.33
R1571:Cntln	UTSW	4	84,865,823 (GRCm39)	nonsense	probably null
R1622:Cntln	UTSW	4	84,981,418 (GRCm39)	missense	probably damaging	1.00
R1681:Cntln	UTSW	4	84,865,872 (GRCm39)	missense	probably damaging	1.00
R1777:Cntln	UTSW	4	85,048,916 (GRCm39)	missense	probably benign	0.23
R1808:Cntln	UTSW	4	85,015,000 (GRCm39)	missense	probably damaging	1.00
R1882:Cntln	UTSW	4	85,019,072 (GRCm39)	missense	probably damaging	1.00
R2056:Cntln	UTSW	4	84,967,911 (GRCm39)	missense	probably benign
R2965:Cntln	UTSW	4	84,892,264 (GRCm39)	critical splice donor site	probably null
R2968:Cntln	UTSW	4	84,875,504 (GRCm39)	missense	probably benign	0.27
R3104:Cntln	UTSW	4	84,875,406 (GRCm39)	missense	possibly damaging	0.95
R3106:Cntln	UTSW	4	84,875,406 (GRCm39)	missense	possibly damaging	0.95
R3121:Cntln	UTSW	4	84,923,289 (GRCm39)	splice site	probably benign
R3617:Cntln	UTSW	4	84,923,214 (GRCm39)	nonsense	probably null
R4009:Cntln	UTSW	4	84,981,452 (GRCm39)	missense	probably benign	0.45
R4036:Cntln	UTSW	4	84,924,725 (GRCm39)	missense	probably damaging	1.00
R4548:Cntln	UTSW	4	85,015,079 (GRCm39)	missense	probably benign	0.27
R4592:Cntln	UTSW	4	84,889,419 (GRCm39)	missense	probably benign	0.00
R4666:Cntln	UTSW	4	84,889,453 (GRCm39)	missense	probably benign	0.13
R4826:Cntln	UTSW	4	84,923,281 (GRCm39)	missense	probably benign	0.03
R4836:Cntln	UTSW	4	84,967,957 (GRCm39)	nonsense	probably null
R4856:Cntln	UTSW	4	84,889,466 (GRCm39)	missense	probably benign	0.35
R4886:Cntln	UTSW	4	84,889,466 (GRCm39)	missense	probably benign	0.35
R4995:Cntln	UTSW	4	84,968,120 (GRCm39)	missense	probably benign	0.00
R5090:Cntln	UTSW	4	84,865,830 (GRCm39)	missense	probably damaging	0.98
R5202:Cntln	UTSW	4	84,889,466 (GRCm39)	missense	probably benign	0.35
R5905:Cntln	UTSW	4	84,889,410 (GRCm39)	missense	probably benign	0.03
R5953:Cntln	UTSW	4	84,968,156 (GRCm39)	missense	possibly damaging	0.92
R6028:Cntln	UTSW	4	84,889,410 (GRCm39)	missense	probably benign	0.03
R6298:Cntln	UTSW	4	85,014,998 (GRCm39)	missense	probably damaging	1.00
R6351:Cntln	UTSW	4	85,033,591 (GRCm39)	missense	probably damaging	0.99
R6481:Cntln	UTSW	4	84,985,747 (GRCm39)	missense	probably benign	0.00
R6864:Cntln	UTSW	4	85,015,029 (GRCm39)	missense	probably damaging	0.99
R6874:Cntln	UTSW	4	84,985,996 (GRCm39)	missense	probably damaging	1.00
R6919:Cntln	UTSW	4	85,033,605 (GRCm39)	missense	probably benign	0.04
R7071:Cntln	UTSW	4	85,018,622 (GRCm39)	missense	probably damaging	1.00
R7113:Cntln	UTSW	4	84,968,064 (GRCm39)	missense	probably damaging	0.98
R7152:Cntln	UTSW	4	84,802,937 (GRCm39)	missense	possibly damaging	0.87
R7253:Cntln	UTSW	4	85,036,710 (GRCm39)	missense	probably damaging	1.00
R7289:Cntln	UTSW	4	84,964,540 (GRCm39)	missense	possibly damaging	0.80
R7440:Cntln	UTSW	4	84,981,453 (GRCm39)	missense	possibly damaging	0.95
R7670:Cntln	UTSW	4	84,897,577 (GRCm39)	missense	possibly damaging	0.66
R7707:Cntln	UTSW	4	84,802,853 (GRCm39)	missense	probably damaging	1.00
R7895:Cntln	UTSW	4	84,981,561 (GRCm39)	missense	possibly damaging	0.91
R8176:Cntln	UTSW	4	84,806,926 (GRCm39)	missense	probably damaging	0.99
R8247:Cntln	UTSW	4	85,019,017 (GRCm39)	missense	probably benign	0.39
R8264:Cntln	UTSW	4	85,016,648 (GRCm39)	missense	probably damaging	1.00
R8293:Cntln	UTSW	4	84,952,075 (GRCm39)	missense	probably damaging	1.00
R8536:Cntln	UTSW	4	84,875,286 (GRCm39)	missense	probably damaging	1.00
R8844:Cntln	UTSW	4	84,892,234 (GRCm39)	missense	probably damaging	1.00
R8924:Cntln	UTSW	4	84,806,936 (GRCm39)	missense	probably damaging	1.00
R8955:Cntln	UTSW	4	84,986,110 (GRCm39)	missense	possibly damaging	0.85
R8960:Cntln	UTSW	4	85,018,961 (GRCm39)	missense	possibly damaging	0.59
R8979:Cntln	UTSW	4	85,048,910 (GRCm39)	missense	probably damaging	1.00
R9255:Cntln	UTSW	4	85,019,103 (GRCm39)	missense	possibly damaging	0.93
R9314:Cntln	UTSW	4	84,924,719 (GRCm39)	missense	probably damaging	1.00
R9353:Cntln	UTSW	4	84,802,597 (GRCm39)	unclassified	probably benign
R9361:Cntln	UTSW	4	84,968,151 (GRCm39)	missense	probably benign	0.23
R9376:Cntln	UTSW	4	84,875,258 (GRCm39)	missense	probably benign	0.24
R9382:Cntln	UTSW	4	84,968,318 (GRCm39)	missense	probably benign	0.13
R9471:Cntln	UTSW	4	84,968,019 (GRCm39)	missense	possibly damaging	0.62
R9478:Cntln	UTSW	4	84,897,630 (GRCm39)	missense	probably benign	0.00
R9527:Cntln	UTSW	4	84,892,120 (GRCm39)	missense	probably damaging	1.00
R9788:Cntln	UTSW	4	84,968,093 (GRCm39)	missense	probably damaging	1.00
R9793:Cntln	UTSW	4	84,985,798 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTCAGGCACTTCGGACTC -3'
(R):5'- CCAGTCCTGATACCTGACACAG -3'

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

Posted On

2018-08-06