Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Cntln'

56459

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

038772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R0582 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84884741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 93 (S93P)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000102819] [ENSMUST00000169371]

AlphaFold

A2AM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000047023
AA Change: S93P

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

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: S93P

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: ENSMUST00000102819
AA Change: S93P

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

SMART Domains

Protein: ENSMUSP00000099883
Gene: ENSMUSG00000038070
AA Change: S93P

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
coiled coil region	166	277	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169371
AA Change: S93P

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

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: S93P

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

0.0702

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,125,082 (GRCm38)		noncoding transcript	Het
Abcb5	A	T	12: 118,940,412 (GRCm38)	M186K	probably benign	Het
Afm	T	C	5: 90,524,780 (GRCm38)		probably benign	Het
Arfgef3	G	A	10: 18,611,290 (GRCm38)	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,831,214 (GRCm38)	S451P	probably benign	Het
Birc6	T	A	17: 74,643,337 (GRCm38)	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,329,511 (GRCm38)	A626V	probably benign	Het
Ccdc50	G	A	16: 27,444,659 (GRCm38)		probably benign	Het
Ctnna2	C	A	6: 77,758,417 (GRCm38)	V106L	probably benign	Het
Ctnnal1	G	C	4: 56,813,228 (GRCm38)	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,680,246 (GRCm38)		probably benign	Het
Dnah8	A	G	17: 30,718,961 (GRCm38)	D1604G	probably benign	Het
Dscaml1	A	T	9: 45,668,264 (GRCm38)	I370F	possibly damaging	Het
Ears2	T	C	7: 122,055,658 (GRCm38)	E129G	probably benign	Het
Gm4981	A	T	10: 58,235,686 (GRCm38)	S235R	probably benign	Het
Igsf10	T	C	3: 59,319,767 (GRCm38)	I2162V	probably benign	Het
Ints9	C	T	14: 64,980,149 (GRCm38)	P42S	probably damaging	Het
Ipp	T	C	4: 116,515,467 (GRCm38)	L231S	probably damaging	Het
Lyn	T	A	4: 3,743,296 (GRCm38)	L72Q	probably damaging	Het
Nfe2l2	T	A	2: 75,676,768 (GRCm38)	E329D	probably damaging	Het
Olfr628	G	A	7: 103,732,673 (GRCm38)	C249Y	possibly damaging	Het
Olfr92	G	C	17: 37,111,455 (GRCm38)	L176V	probably benign	Het
Pdyn	A	C	2: 129,689,738 (GRCm38)	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,931,699 (GRCm38)		probably benign	Het
Prpf40a	A	T	2: 53,145,692 (GRCm38)	F695L	probably damaging	Het
Rnf217	A	G	10: 31,608,767 (GRCm38)	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,169,197 (GRCm38)	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,758,444 (GRCm38)	C167F	probably damaging	Het
Snap47	A	T	11: 59,428,433 (GRCm38)	L293*	probably null	Het
Snx3	A	T	10: 42,533,280 (GRCm38)		probably benign	Het
Sycp2l	T	A	13: 41,137,955 (GRCm38)		probably benign	Het
Taar3	A	G	10: 23,949,817 (GRCm38)	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,433,857 (GRCm38)		probably benign	Het
Tssc4	T	C	7: 143,070,509 (GRCm38)	S185P	probably damaging	Het
Ttc28	G	T	5: 111,183,296 (GRCm38)	A430S	probably damaging	Het
Vmn2r27	T	C	6: 124,224,290 (GRCm38)	D236G	probably benign	Het
Vps54	G	T	11: 21,300,137 (GRCm38)	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,251,908 (GRCm38)	V24M	probably damaging	Het
Xirp2	T	G	2: 67,508,866 (GRCm38)	L484V	probably benign	Het
Zfyve26	T	C	12: 79,246,222 (GRCm38)	D2051G	probably damaging	Het

Other mutations in Cntln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Cntln	APN	4	85,006,434 (GRCm38)	missense	probably benign	0.25
IGL00743:Cntln	APN	4	84,979,415 (GRCm38)	missense	probably benign	0.06
IGL01014:Cntln	APN	4	85,049,908 (GRCm38)	missense	probably benign	0.25
IGL02217:Cntln	APN	4	85,100,258 (GRCm38)	missense	probably damaging	1.00
IGL02323:Cntln	APN	4	85,049,789 (GRCm38)	missense	probably benign	0.00
IGL02353:Cntln	APN	4	85,049,850 (GRCm38)	missense	probably damaging	0.98
IGL02360:Cntln	APN	4	85,049,850 (GRCm38)	missense	probably damaging	0.98
IGL02616:Cntln	APN	4	85,115,452 (GRCm38)	critical splice donor site	probably null
PIT4696001:Cntln	UTSW	4	84,974,000 (GRCm38)	missense	probably damaging	0.99
R0110:Cntln	UTSW	4	85,096,757 (GRCm38)	missense	probably damaging	1.00
R0324:Cntln	UTSW	4	85,092,695 (GRCm38)	missense	probably damaging	0.98
R0349:Cntln	UTSW	4	84,996,485 (GRCm38)	missense	probably damaging	1.00
R0519:Cntln	UTSW	4	85,005,053 (GRCm38)	splice site	probably benign
R0529:Cntln	UTSW	4	85,067,825 (GRCm38)	missense	probably damaging	1.00
R1077:Cntln	UTSW	4	84,996,479 (GRCm38)	missense	probably damaging	1.00
R1345:Cntln	UTSW	4	84,973,991 (GRCm38)	missense	probably damaging	1.00
R1457:Cntln	UTSW	4	85,096,839 (GRCm38)	missense	probably benign	0.33
R1571:Cntln	UTSW	4	84,947,586 (GRCm38)	nonsense	probably null
R1622:Cntln	UTSW	4	85,063,181 (GRCm38)	missense	probably damaging	1.00
R1681:Cntln	UTSW	4	84,947,635 (GRCm38)	missense	probably damaging	1.00
R1777:Cntln	UTSW	4	85,130,679 (GRCm38)	missense	probably benign	0.23
R1808:Cntln	UTSW	4	85,096,763 (GRCm38)	missense	probably damaging	1.00
R1882:Cntln	UTSW	4	85,100,835 (GRCm38)	missense	probably damaging	1.00
R2056:Cntln	UTSW	4	85,049,674 (GRCm38)	missense	probably benign
R2965:Cntln	UTSW	4	84,974,027 (GRCm38)	critical splice donor site	probably null
R2968:Cntln	UTSW	4	84,957,267 (GRCm38)	missense	probably benign	0.27
R3104:Cntln	UTSW	4	84,957,169 (GRCm38)	missense	possibly damaging	0.95
R3106:Cntln	UTSW	4	84,957,169 (GRCm38)	missense	possibly damaging	0.95
R3121:Cntln	UTSW	4	85,005,052 (GRCm38)	splice site	probably benign
R3617:Cntln	UTSW	4	85,004,977 (GRCm38)	nonsense	probably null
R4009:Cntln	UTSW	4	85,063,215 (GRCm38)	missense	probably benign	0.45
R4036:Cntln	UTSW	4	85,006,488 (GRCm38)	missense	probably damaging	1.00
R4548:Cntln	UTSW	4	85,096,842 (GRCm38)	missense	probably benign	0.27
R4592:Cntln	UTSW	4	84,971,182 (GRCm38)	missense	probably benign	0.00
R4666:Cntln	UTSW	4	84,971,216 (GRCm38)	missense	probably benign	0.13
R4826:Cntln	UTSW	4	85,005,044 (GRCm38)	missense	probably benign	0.03
R4836:Cntln	UTSW	4	85,049,720 (GRCm38)	nonsense	probably null
R4856:Cntln	UTSW	4	84,971,229 (GRCm38)	missense	probably benign	0.35
R4886:Cntln	UTSW	4	84,971,229 (GRCm38)	missense	probably benign	0.35
R4995:Cntln	UTSW	4	85,049,883 (GRCm38)	missense	probably benign	0.00
R5090:Cntln	UTSW	4	84,947,593 (GRCm38)	missense	probably damaging	0.98
R5202:Cntln	UTSW	4	84,971,229 (GRCm38)	missense	probably benign	0.35
R5905:Cntln	UTSW	4	84,971,173 (GRCm38)	missense	probably benign	0.03
R5953:Cntln	UTSW	4	85,049,919 (GRCm38)	missense	possibly damaging	0.92
R6028:Cntln	UTSW	4	84,971,173 (GRCm38)	missense	probably benign	0.03
R6298:Cntln	UTSW	4	85,096,761 (GRCm38)	missense	probably damaging	1.00
R6351:Cntln	UTSW	4	85,115,354 (GRCm38)	missense	probably damaging	0.99
R6371:Cntln	UTSW	4	84,884,579 (GRCm38)	missense	probably damaging	0.98
R6481:Cntln	UTSW	4	85,067,510 (GRCm38)	missense	probably benign	0.00
R6864:Cntln	UTSW	4	85,096,792 (GRCm38)	missense	probably damaging	0.99
R6874:Cntln	UTSW	4	85,067,759 (GRCm38)	missense	probably damaging	1.00
R6919:Cntln	UTSW	4	85,115,368 (GRCm38)	missense	probably benign	0.04
R7071:Cntln	UTSW	4	85,100,385 (GRCm38)	missense	probably damaging	1.00
R7113:Cntln	UTSW	4	85,049,827 (GRCm38)	missense	probably damaging	0.98
R7152:Cntln	UTSW	4	84,884,700 (GRCm38)	missense	possibly damaging	0.87
R7253:Cntln	UTSW	4	85,118,473 (GRCm38)	missense	probably damaging	1.00
R7289:Cntln	UTSW	4	85,046,303 (GRCm38)	missense	possibly damaging	0.80
R7440:Cntln	UTSW	4	85,063,216 (GRCm38)	missense	possibly damaging	0.95
R7670:Cntln	UTSW	4	84,979,340 (GRCm38)	missense	possibly damaging	0.66
R7707:Cntln	UTSW	4	84,884,616 (GRCm38)	missense	probably damaging	1.00
R7895:Cntln	UTSW	4	85,063,324 (GRCm38)	missense	possibly damaging	0.91
R8176:Cntln	UTSW	4	84,888,689 (GRCm38)	missense	probably damaging	0.99
R8247:Cntln	UTSW	4	85,100,780 (GRCm38)	missense	probably benign	0.39
R8264:Cntln	UTSW	4	85,098,411 (GRCm38)	missense	probably damaging	1.00
R8293:Cntln	UTSW	4	85,033,838 (GRCm38)	missense	probably damaging	1.00
R8536:Cntln	UTSW	4	84,957,049 (GRCm38)	missense	probably damaging	1.00
R8844:Cntln	UTSW	4	84,973,997 (GRCm38)	missense	probably damaging	1.00
R8924:Cntln	UTSW	4	84,888,699 (GRCm38)	missense	probably damaging	1.00
R8955:Cntln	UTSW	4	85,067,873 (GRCm38)	missense	possibly damaging	0.85
R8960:Cntln	UTSW	4	85,100,724 (GRCm38)	missense	possibly damaging	0.59
R8979:Cntln	UTSW	4	85,130,673 (GRCm38)	missense	probably damaging	1.00
R9255:Cntln	UTSW	4	85,100,866 (GRCm38)	missense	possibly damaging	0.93
R9314:Cntln	UTSW	4	85,006,482 (GRCm38)	missense	probably damaging	1.00
R9353:Cntln	UTSW	4	84,884,360 (GRCm38)	unclassified	probably benign
R9361:Cntln	UTSW	4	85,049,914 (GRCm38)	missense	probably benign	0.23
R9376:Cntln	UTSW	4	84,957,021 (GRCm38)	missense	probably benign	0.24
R9382:Cntln	UTSW	4	85,050,081 (GRCm38)	missense	probably benign	0.13
R9471:Cntln	UTSW	4	85,049,782 (GRCm38)	missense	possibly damaging	0.62
R9478:Cntln	UTSW	4	84,979,393 (GRCm38)	missense	probably benign	0.00
R9527:Cntln	UTSW	4	84,973,883 (GRCm38)	missense	probably damaging	1.00
R9788:Cntln	UTSW	4	85,049,856 (GRCm38)	missense	probably damaging	1.00
R9793:Cntln	UTSW	4	85,067,561 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCCACTAGGAACCGCGAT -3'
(R):5'- GGGTATCACTAGACAGCACCAGGA -3'

Sequencing Primer
(F):5'- TTTCAAGCGGGAACTTGACC -3'
(R):5'- CACCAGGAACTTGGGCTTTG -3'

Posted On

2013-07-11