Mutagenetix > Incidental Mutation

Incidental Mutation 'R1622:Cntln'

174695

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

039659-MU

Accession Numbers

Essential gene?

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

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84802546-85050158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84981418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 865 (S865R)

Ref Sequence

ENSEMBL: ENSMUSP00000044138 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: S865R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: S865R

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: S864R

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: S864R

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

0.0684

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arhgap19	T	A	19: 41,790,412 (GRCm39)	S19C	probably benign	Het
Arhgef18	T	A	8: 3,491,272 (GRCm39)	D374E	possibly damaging	Het
Atf2	A	G	2: 73,684,133 (GRCm39)		probably null	Het
Cadm1	A	G	9: 47,725,139 (GRCm39)	N300S	probably benign	Het
Ccdc159	A	T	9: 21,840,666 (GRCm39)	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,530,885 (GRCm39)	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,713,864 (GRCm39)	I182T	probably damaging	Het
Cnga3	T	A	1: 37,283,909 (GRCm39)		probably benign	Het
Col5a3	C	T	9: 20,683,516 (GRCm39)	G1552E	unknown	Het
Col6a4	A	C	9: 105,874,334 (GRCm39)	S2218A	probably benign	Het
Ephb1	T	C	9: 101,878,910 (GRCm39)	T527A	probably benign	Het
Fkbp15	T	A	4: 62,241,439 (GRCm39)	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,729,329 (GRCm39)	S484P	possibly damaging	Het
Glce	T	C	9: 61,977,843 (GRCm39)	I14V	possibly damaging	Het
Gm4884	A	T	7: 40,692,265 (GRCm39)	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,660,748 (GRCm39)	T180A	possibly damaging	Het
Gpr6	A	T	10: 40,947,288 (GRCm39)	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,230,722 (GRCm39)	N22S	probably benign	Het
Hfm1	C	T	5: 107,041,389 (GRCm39)	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,169,225 (GRCm39)	I159N	possibly damaging	Het
Irf8	G	C	8: 121,466,561 (GRCm39)	C2S	possibly damaging	Het
Itih2	A	T	2: 10,106,890 (GRCm39)	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mmp10	T	A	9: 7,504,996 (GRCm39)	Y263*	probably null	Het
Morc3	T	A	16: 93,671,694 (GRCm39)	M835K	probably benign	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Ncbp1	A	G	4: 46,171,963 (GRCm39)	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,710,182 (GRCm39)	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,439,302 (GRCm39)	I293N	probably damaging	Het
Pank2	A	T	2: 131,115,889 (GRCm39)	E102D	probably damaging	Het
Pbrm1	A	G	14: 30,754,505 (GRCm39)	D175G	probably benign	Het
Pcdh9	T	C	14: 94,123,311 (GRCm39)	D953G	probably benign	Het
Pibf1	G	A	14: 99,423,917 (GRCm39)	V497I	probably benign	Het
Pkd1	G	A	17: 24,800,614 (GRCm39)	M3085I	probably benign	Het
Prss58	A	T	6: 40,874,248 (GRCm39)	C143S	possibly damaging	Het
Rassf8	A	G	6: 145,765,829 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag7	T	A	11: 70,555,688 (GRCm39)	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,746,246 (GRCm39)	M189L	probably benign	Het
Syt4	T	C	18: 31,577,069 (GRCm39)	D95G	probably damaging	Het
Tbc1d8	A	C	1: 39,419,317 (GRCm39)	S766A	probably benign	Het
Tmco5	A	T	2: 116,710,796 (GRCm39)	M39L	probably benign	Het
Trcg1	A	G	9: 57,155,955 (GRCm39)	N797S	possibly damaging	Het
Trim34a	A	T	7: 103,910,545 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,009,357 (GRCm39)		probably benign	Het
Urb2	A	G	8: 124,756,363 (GRCm39)	N690S	probably benign	Het
Zfp445	A	G	9: 122,681,614 (GRCm39)	Y776H	possibly damaging	Het
Zfp52	G	A	17: 21,781,833 (GRCm39)	M560I	probably benign	Het
Zfp608	A	G	18: 55,121,366 (GRCm39)	S74P	probably benign	Het
Zfp629	A	G	7: 127,211,012 (GRCm39)	C266R	probably damaging	Het
Zscan2	A	G	7: 80,525,134 (GRCm39)	K285R	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
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
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'- AGACAAAAGTTCCTGGCTCATAGCG -3'
(R):5'- CCTCACATGAGTACGTCTGCATAGC -3'

Sequencing Primer
(F):5'- CTAGGGATCAAGTTTCCTGATGAAG -3'
(R):5'- CATAGCTCTTTGTTGAGCACAG -3'

Posted On

2014-04-24