Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Cntln'

470992

Institutional Source

Beutler Lab

Gene Symbol

Cntln

Ensembl Gene

ENSMUSG00000038070

Gene Name

centlein, centrosomal protein

Synonyms

B430108F07Rik, D530005L17Rik

MMRRC Submission

043245-MU

Accession Numbers

Essential gene?

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

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84884309-85131921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85049919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 792 (H792Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130491 (fasta)

Gene Model

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

AlphaFold

A2AM05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047023
AA Change: H792Y

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: H792Y

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: H792Y

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: H792Y

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018 (GRCm38)	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404 (GRCm38)	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446 (GRCm38)	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338 (GRCm38)	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285 (GRCm38)	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979 (GRCm38)		probably null	Het
Cenpp	T	C	13: 49,652,685 (GRCm38)	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201 (GRCm38)		probably benign	Het
Clec4a3	G	T	6: 122,969,492 (GRCm38)	V232L	probably benign	Het
Cobl	T	A	11: 12,256,220 (GRCm38)	T470S	probably benign	Het
Cym	T	A	3: 107,213,467 (GRCm38)	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223 (GRCm38)	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558 (GRCm38)	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973 (GRCm38)	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360 (GRCm38)	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707 (GRCm38)	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335 (GRCm38)	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673 (GRCm38)	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982 (GRCm38)	C256*	probably null	Het
Intu	A	C	3: 40,679,550 (GRCm38)	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116 (GRCm38)	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510 (GRCm38)	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511 (GRCm38)	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382 (GRCm38)	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791 (GRCm38)	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368 (GRCm38)	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614 (GRCm38)	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313 (GRCm38)	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951 (GRCm38)	I1936N		Het
Plekhm3	C	T	1: 64,937,895 (GRCm38)	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048 (GRCm38)	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837 (GRCm38)	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627 (GRCm38)	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963 (GRCm38)	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927 (GRCm38)	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744 (GRCm38)	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498 (GRCm38)	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402 (GRCm38)	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403 (GRCm38)	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192 (GRCm38)	M82L	probably benign	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
R0582:Cntln	UTSW	4	84,884,741 (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
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'- GCTAGAACAACTACTGAGGGTG -3'
(R):5'- TTAATGAGAGCCTTACCTGCC -3'

Sequencing Primer
(F):5'- CTACTGAGGGTGAGCAAAGATGTAG -3'
(R):5'- AGGTTCTCCACGTGGCTCATAAC -3'

Posted On

2017-03-31