Mutagenetix > Incidental Mutation

Incidental Mutation 'R9527:Cntln'

719304

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84802546-85050158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84892120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 335 (Q335R)

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: Q335R

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

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: Q335R

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: ENSMUST00000169371
AA Change: Q335R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: Q335R

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,886,284 (GRCm39)	D453G	probably benign	Het
Aqr	A	C	2: 113,932,037 (GRCm39)	S1443R	probably benign	Het
Atr	T	C	9: 95,767,429 (GRCm39)	M1162T	probably damaging	Het
Bicdl1	T	A	5: 115,811,188 (GRCm39)	N241I	possibly damaging	Het
Catip	A	G	1: 74,401,637 (GRCm39)	N38S	probably benign	Het
Cct6b	A	G	11: 82,630,447 (GRCm39)		probably null	Het
Clspn	A	T	4: 126,453,792 (GRCm39)	R72*	probably null	Het
Col9a2	T	C	4: 120,899,528 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,544,875 (GRCm39)	N55D	unknown	Het
Dnajc5b	A	T	3: 19,633,248 (GRCm39)	D157V	probably damaging	Het
Exoc6	T	G	19: 37,558,987 (GRCm39)	D86E	probably benign	Het
Fam204a	A	T	19: 60,208,992 (GRCm39)	H87Q	probably damaging	Het
Fer1l4	A	G	2: 155,871,617 (GRCm39)	W1388R	probably damaging	Het
Hcn2	A	T	10: 79,570,706 (GRCm39)	I642F	probably benign	Het
Igsf9	C	A	1: 172,323,244 (GRCm39)	L653M	probably damaging	Het
Imp4	A	G	1: 34,481,991 (GRCm39)	E38G	probably benign	Het
Kirrel1	C	A	3: 86,996,912 (GRCm39)	E297*	probably null	Het
Krt82	G	A	15: 101,454,558 (GRCm39)	T222I	probably benign	Het
Lysmd1	T	C	3: 95,042,156 (GRCm39)	L10P	probably benign	Het
Mcmbp	A	G	7: 128,305,242 (GRCm39)	S509P	probably damaging	Het
Mms19	A	T	19: 41,952,830 (GRCm39)	I93N	possibly damaging	Het
Mtmr7	A	G	8: 41,011,345 (GRCm39)	F402L	possibly damaging	Het
Myo1h	C	T	5: 114,453,098 (GRCm39)	R49C		Het
Scd3	T	C	19: 44,226,816 (GRCm39)	Y217H	probably benign	Het
Snx17	T	C	5: 31,353,826 (GRCm39)	Y205H	probably damaging	Het
Spag17	T	A	3: 99,970,777 (GRCm39)	D1320E	probably damaging	Het
Tasor2	A	T	13: 3,635,191 (GRCm39)	S539T	possibly damaging	Het
Xirp1	C	A	9: 119,847,558 (GRCm39)	V442L	probably damaging	Het
Xrcc5	G	A	1: 72,369,091 (GRCm39)	R315H	probably damaging	Het
Yju2b	A	T	8: 84,989,652 (GRCm39)	C56S	probably damaging	Het
Zc3hav1	C	A	6: 38,330,913 (GRCm39)	C82F	probably damaging	Het
Zfp787	A	G	7: 6,136,027 (GRCm39)	F75L	probably damaging	Het
Zswim3	C	T	2: 164,662,285 (GRCm39)	T255I	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
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
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'- GCCTTTGAAAACCACAGTAGTTC -3'
(R):5'- ACATTTTCACAGTGACACAGC -3'

Sequencing Primer
(F):5'- TCTATCCCCTTAGATGAGCC -3'
(R):5'- ACACAGCAGCGTACTTTTTGG -3'

Posted On

2022-07-18