Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Cntln'

566217

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

D530005L17Rik, B430108F07Rik

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

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

Stock #

R7289 (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 84964540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 656 (E656G)

Ref Sequence

ENSEMBL: ENSMUSP00000044138 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047023
AA Change: E656G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: E656G

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

possibly damaging
Transcript: ENSMUST00000169371
AA Change: E656G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: E656G

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,818,550 (GRCm39)	D112N	probably damaging	Het
Abca7	T	A	10: 79,845,778 (GRCm39)	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,815,059 (GRCm39)	D234G	probably damaging	Het
Agap1	T	A	1: 89,383,153 (GRCm39)	M1K	probably null	Het
Agrn	A	T	4: 156,263,389 (GRCm39)	L345H	probably damaging	Het
Amfr	A	G	8: 94,725,754 (GRCm39)	M209T	possibly damaging	Het
Angel2	G	A	1: 190,673,371 (GRCm39)	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,330,674 (GRCm39)	A866V	probably damaging	Het
Apc	G	A	18: 34,448,324 (GRCm39)	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,168,233 (GRCm39)	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,168,234 (GRCm39)	S739T	probably benign	Het
Arhgef2	C	T	3: 88,543,192 (GRCm39)	S418L	probably benign	Het
Arhgef25	T	C	10: 127,019,641 (GRCm39)	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,638,846 (GRCm39)	S328F	probably benign	Het
Bahcc1	C	T	11: 120,171,000 (GRCm39)	A1514V	probably benign	Het
Calcoco2	C	T	11: 95,990,823 (GRCm39)	E305K	unknown	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdc42bpa	A	T	1: 179,889,362 (GRCm39)	K203*	probably null	Het
Cmc1	A	T	9: 117,904,250 (GRCm39)	I47N	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,864 (GRCm39)	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,546,492 (GRCm39)	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,333,193 (GRCm39)	R367Q	probably damaging	Het
Desi2	A	T	1: 178,083,702 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,301,424 (GRCm39)	D2160G	unknown	Het
Efcab3	T	C	11: 104,929,184 (GRCm39)	M4838T	probably benign	Het
Epb41	A	G	4: 131,718,520 (GRCm39)		probably null	Het
Esrrb	T	A	12: 86,517,331 (GRCm39)		probably null	Het
Fabp1	C	A	6: 71,180,111 (GRCm39)	T94N	probably benign	Het
Fam120a	A	T	13: 49,045,482 (GRCm39)	C785S	probably damaging	Het
Fam243	T	C	16: 92,117,710 (GRCm39)	I193V	probably damaging	Het
Foxc1	A	G	13: 31,991,243 (GRCm39)	Y18C	probably damaging	Het
Fshr	T	C	17: 89,293,272 (GRCm39)	T469A	probably benign	Het
Gm14399	T	A	2: 174,972,204 (GRCm39)	H517L	unknown	Het
Gm39115	G	T	7: 141,689,297 (GRCm39)	Q159K	unknown	Het
Gm7347	T	A	5: 26,262,306 (GRCm39)	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,559,466 (GRCm39)	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,822,858 (GRCm39)	T88P	probably damaging	Het
Insm2	T	A	12: 55,647,329 (GRCm39)	Y358N	probably damaging	Het
Kazn	A	T	4: 141,844,486 (GRCm39)	L409Q		Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,311,084 (GRCm39)	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,927,557 (GRCm39)	Y140H	probably benign	Het
Kifbp	A	C	10: 62,401,895 (GRCm39)	C261W	probably damaging	Het
Krt25	C	T	11: 99,212,098 (GRCm39)	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Nr3c1	T	C	18: 39,547,654 (GRCm39)	T755A	probably benign	Het
Nr3c1	A	T	18: 39,555,786 (GRCm39)	I517N	probably benign	Het
Nxpe2	A	G	9: 48,234,339 (GRCm39)		probably null	Het
Oaz1	C	A	10: 80,662,673 (GRCm39)	T27K	possibly damaging	Het
Or4p7	A	T	2: 88,222,050 (GRCm39)	H153L	probably damaging	Het
Or51f5	T	C	7: 102,424,634 (GRCm39)	I301T	probably damaging	Het
Or5t5	G	T	2: 86,617,034 (GRCm39)	C320F	probably benign	Het
Or6z3	T	A	7: 6,463,777 (GRCm39)	W90R	probably benign	Het
Or8k21	A	G	2: 86,145,369 (GRCm39)	M87T	probably benign	Het
Or8s5	A	G	15: 98,237,943 (GRCm39)	V309A	probably damaging	Het
Pafah2	A	T	4: 134,147,308 (GRCm39)	K319M	probably damaging	Het
Pask	A	T	1: 93,259,309 (GRCm39)	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,322,966 (GRCm39)	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,532,343 (GRCm39)	I164F	probably damaging	Het
Phf1	T	C	17: 27,154,289 (GRCm39)	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,705,301 (GRCm39)	I212F	probably benign	Het
Pnkp	T	A	7: 44,508,114 (GRCm39)	W146R	probably damaging	Het
Prkcb	A	T	7: 122,143,910 (GRCm39)	I325F	probably benign	Het
Ptpn21	C	T	12: 98,670,450 (GRCm39)	D239N	probably benign	Het
Ptprb	A	G	10: 116,164,070 (GRCm39)	T626A	probably damaging	Het
Pttg1	T	C	11: 43,311,916 (GRCm39)	N180D	probably benign	Het
Raly	G	A	2: 154,703,774 (GRCm39)	R115Q	probably damaging	Het
Rims2	A	T	15: 39,301,114 (GRCm39)	M474L	probably benign	Het
Sash1	A	T	10: 8,605,960 (GRCm39)	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,337,304 (GRCm39)	L55*	probably null	Het
Sema6b	A	T	17: 56,432,573 (GRCm39)	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,952,761 (GRCm39)	G5E	unknown	Het
Sesn3	A	T	9: 14,187,848 (GRCm39)	M1L	probably benign	Het
Sez6	T	A	11: 77,865,149 (GRCm39)	I632N	possibly damaging	Het
Sgo2b	A	T	8: 64,394,192 (GRCm39)	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,071,524 (GRCm39)	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,333,786 (GRCm39)	W30R	probably benign	Het
Spata31g1	A	T	4: 42,972,379 (GRCm39)	T571S	probably benign	Het
Spata31g1	A	T	4: 42,973,252 (GRCm39)	I862F	possibly damaging	Het
Stk31	T	G	6: 49,415,393 (GRCm39)	V576G	probably benign	Het
Szt2	G	A	4: 118,233,075 (GRCm39)	T2297I	unknown	Het
Tmem208	T	C	8: 106,061,418 (GRCm39)	F148S	possibly damaging	Het
Tprg1l	A	G	4: 154,245,031 (GRCm39)	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,050,897 (GRCm39)	N207K	probably damaging	Het
Ube2n	G	T	10: 95,377,612 (GRCm39)	K130N	probably benign	Het
Usp36	T	C	11: 118,164,355 (GRCm39)	Y384C	probably damaging	Het
Vcan	A	T	13: 89,840,852 (GRCm39)	L1564*	probably null	Het
Xkr6	A	T	14: 64,035,748 (GRCm39)	D283V	unknown	Het
Zfp654	T	C	16: 64,605,523 (GRCm39)	H352R	probably benign	Het
Zfp819	T	A	7: 43,266,506 (GRCm39)	C330S	probably damaging	Het
Zfp970	G	T	2: 177,167,086 (GRCm39)	C220F	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
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'- TGAAAGACTTAGCACTGCAGGG -3'
(R):5'- CAAGGTTTAAGTTCATGAGCTCTC -3'

Sequencing Primer
(F):5'- CTTAGCACTGCAGGGAAAAAG -3'
(R):5'- CTTGCTCGGCTCAATATCT -3'

Posted On

2019-06-26