Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Cntln'

430223

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

042442-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84802546-85050158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84923281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 582 (M582R)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably benign
Transcript: ENSMUST00000047023
AA Change: M582R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: M582R

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: ENSMUST00000169371
AA Change: M582R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: M582R

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

0.0673

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Aifm2	T	C	10: 61,561,768 (GRCm39)	M38T	probably benign	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or56a5	G	T	7: 104,793,175 (GRCm39)	N108K	probably damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rassf8	T	A	6: 145,762,276 (GRCm39)	L349H	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc37a1	A	G	17: 31,541,147 (GRCm39)	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,316,494 (GRCm39)	D580G	probably benign	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	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
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
R6371:Cntln	UTSW	4	84,802,816 (GRCm39)	missense	probably damaging	0.98
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'- AGCATTTCACACGGCCTTCC -3'
(R):5'- GCCAGTGACATCTGTAAATGATAGGG -3'

Sequencing Primer
(F):5'- ATCCCTAGATGAGTGATTTTAGGAG -3'
(R):5'- GGGAAATCTATAGTTATGGCTAACAC -3'

Posted On

2016-09-21