Mutagenetix > Incidental Mutation

Incidental Mutation 'R7071:Cntln'

548898

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

045167-MU

Accession Numbers

Essential gene?

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

Stock #

R7071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84802546-85050158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85018622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 76 (L76Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102808 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: L1211Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: L1211Q

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: ENSMUST00000107190
AA Change: L76Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: L76Q

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

probably damaging
Transcript: ENSMUST00000169371
AA Change: L1210Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: L1210Q

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: 99.1%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,449,503 (GRCm39)	Q854*	probably null	Het
Arl2bp	G	T	8: 95,393,794 (GRCm39)		probably benign	Het
Astl	T	C	2: 127,187,885 (GRCm39)	M121T	probably benign	Het
Atrip	T	C	9: 108,896,082 (GRCm39)		probably null	Het
Camk1g	A	T	1: 193,042,117 (GRCm39)	V44E	probably benign	Het
Cc2d2a	A	G	5: 43,866,455 (GRCm39)	H804R	probably benign	Het
Cd300a	T	C	11: 114,792,099 (GRCm39)	S314P	probably damaging	Het
Ceacam5	A	T	7: 17,484,577 (GRCm39)	I440L	possibly damaging	Het
Cfap61	T	G	2: 145,843,832 (GRCm39)	I306R	probably benign	Het
Cnot10	T	C	9: 114,446,787 (GRCm39)		probably null	Het
Cobl	A	G	11: 12,204,795 (GRCm39)	C636R	probably benign	Het
Dnm3	A	T	1: 161,847,412 (GRCm39)	H148Q	probably damaging	Het
Dot1l	T	A	10: 80,628,079 (GRCm39)	L1039Q	probably benign	Het
Faiml	T	A	9: 99,118,400 (GRCm39)	M1L	unknown	Het
Fat1	T	G	8: 45,442,145 (GRCm39)	I1149S	possibly damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm11938	A	T	11: 99,493,910 (GRCm39)	C62S	probably damaging	Het
Gtf2i	A	G	5: 134,292,475 (GRCm39)	L423S	probably damaging	Het
Hmcn1	A	T	1: 150,479,853 (GRCm39)	C4582S	probably damaging	Het
Ifitm3	A	G	7: 140,590,437 (GRCm39)	V41A	probably benign	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Khsrp	C	A	17: 57,332,386 (GRCm39)	M268I	possibly damaging	Het
Lrp1b	T	G	2: 41,298,276 (GRCm39)	D1036A		Het
Mecom	T	G	3: 30,034,857 (GRCm39)	H273P	probably damaging	Het
Mfn1	G	A	3: 32,622,544 (GRCm39)	V601I	probably benign	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Myo18a	A	G	11: 77,714,653 (GRCm39)	T811A	probably damaging	Het
Ndfip2	A	C	14: 105,539,760 (GRCm39)	N292H	possibly damaging	Het
Or2ak5	C	A	11: 58,610,984 (GRCm39)	V297F	possibly damaging	Het
Otog	T	A	7: 45,916,747 (GRCm39)	C895S	probably damaging	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pira13	A	G	7: 3,824,667 (GRCm39)	S573P	unknown	Het
Ptprn	A	T	1: 75,237,263 (GRCm39)	M113K	possibly damaging	Het
Rag1	T	C	2: 101,473,807 (GRCm39)	H445R	probably damaging	Het
Ranbp2	T	G	10: 58,328,659 (GRCm39)	F2853V	probably damaging	Het
Skint5	A	T	4: 113,636,277 (GRCm39)	F647Y	unknown	Het
Stt3b	T	C	9: 115,083,085 (GRCm39)	Y449C	probably damaging	Het
Ythdc2	A	G	18: 44,978,855 (GRCm39)	D455G	probably benign	Het
Zfp451	A	C	1: 33,815,825 (GRCm39)	D708E	possibly damaging	Het
Zfp456	T	C	13: 67,520,896 (GRCm39)	E33G	probably damaging	Het
Zfp599	T	C	9: 22,169,392 (GRCm39)	T27A	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
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
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'- AGTTCAGTTTCTGAGGATACAATGC -3'
(R):5'- GCTGATGCACCACACTCATTAC -3'

Sequencing Primer
(F):5'- AGTATGCTACTGTAATGCCCTTG -3'
(R):5'- TACGGTAAACAAAGTCTAAGGGTTC -3'

Posted On

2019-05-15