Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Cep126'

570149

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8076461-8134294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8099816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 906 (S906P)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037397]

AlphaFold

Q0VBV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037397
AA Change: S906P

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

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: S906P

Domain	Start	End	E-Value	Type
low complexity region	6	36	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Pfam:K1377	100	1061	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,955,910	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,466,478	R934Q	possibly damaging	Het
Atad5	T	C	11: 80,096,006	S640P	probably damaging	Het
B3galnt2	C	T	13: 13,980,480		probably null	Het
B430305J03Rik	T	C	3: 61,364,118	S69G	unknown	Het
C87499	T	C	4: 88,628,179	K309E	possibly damaging	Het
Cd163	A	T	6: 124,318,938	N747I	possibly damaging	Het
Cyp4f39	G	A	17: 32,486,779	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,217,209	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583	L139P	probably damaging	Het
Dcc	A	G	18: 71,378,824	V840A	probably benign	Het
Dnhd1	A	T	7: 105,703,967	I2776L	probably benign	Het
Fam166b	T	C	4: 43,428,022	D145G	possibly damaging	Het
Fbxo24	G	T	5: 137,621,261	F234L	probably damaging	Het
Gm21190	T	C	5: 15,527,904		probably null	Het
Grhl3	C	T	4: 135,546,246	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,645,670	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,304,773	R133S	probably benign	Het
Ipo4	C	T	14: 55,635,531	R23Q	probably benign	Het
Klc3	G	A	7: 19,394,889	T481M	probably benign	Het
Map2k6	A	T	11: 110,492,908	I127F		Het
Mapk8	A	T	14: 33,408,111	N63K	probably damaging	Het
Med13l	T	C	5: 118,742,760	W1306R	probably damaging	Het
Megf6	C	A	4: 154,267,315	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,708,024	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,714,659	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503	F838L	probably benign	Het
Nrm	A	G	17: 35,864,584	H194R	probably damaging	Het
Nup188	T	C	2: 30,340,601	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,960,127	D618E	probably damaging	Het
Olfr466	A	C	13: 65,152,743	N173T	possibly damaging	Het
Olfr506	C	T	7: 108,613,063	T252I	probably benign	Het
Olfr937	A	G	9: 39,060,579	L29P	probably damaging	Het
Olfr938	G	A	9: 39,078,334	S137F	probably damaging	Het
P2ry1	T	C	3: 61,003,674	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,491,923	F769L	probably benign	Het
Poc5	A	G	13: 96,396,796	E144G	probably damaging	Het
Pole	T	A	5: 110,303,903	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,349,119	F1159L	possibly damaging	Het
Rubcnl	A	G	14: 75,042,353	Y392C	probably benign	Het
Sec31a	T	C	5: 100,385,270	T539A	probably damaging	Het
Serpinh1	A	C	7: 99,346,356	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,796,160		probably null	Het
Soat2	A	G	15: 102,162,578	D469G	probably benign	Het
Speg	T	C	1: 75,384,835	L70P	probably damaging	Het
Spred2	T	C	11: 19,924,958		probably null	Het
Stac2	A	C	11: 98,042,613	S168A	probably damaging	Het
Stx1a	T	A	5: 135,037,188	D31E	probably benign	Het
Timeless	C	T	10: 128,249,754	T885M	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,695,615	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966	V1598A	unknown	Het
Zfat	A	T	15: 68,105,043	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,416,595	H296Y	probably benign	Het

Other mutations in Cep126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Cep126	APN	9	8103319	missense	possibly damaging	0.57
IGL01967:Cep126	APN	9	8095208	splice site	probably null
IGL02065:Cep126	APN	9	8099924	missense	probably benign	0.09
IGL03215:Cep126	APN	9	8100530	nonsense	probably null
R0064:Cep126	UTSW	9	8130182	splice site	probably benign
R0064:Cep126	UTSW	9	8130182	splice site	probably benign
R0184:Cep126	UTSW	9	8103395	missense	probably benign	0.19
R0835:Cep126	UTSW	9	8130223	missense	probably damaging	1.00
R0980:Cep126	UTSW	9	8100719	missense	probably damaging	0.99
R1288:Cep126	UTSW	9	8112181	missense	probably benign	0.01
R1341:Cep126	UTSW	9	8099776	missense	possibly damaging	0.78
R1351:Cep126	UTSW	9	8100086	missense	probably damaging	0.99
R1484:Cep126	UTSW	9	8100553	missense	possibly damaging	0.81
R1707:Cep126	UTSW	9	8100382	missense	probably benign	0.00
R1732:Cep126	UTSW	9	8099761	missense	probably benign
R1903:Cep126	UTSW	9	8120747	missense	possibly damaging	0.58
R1968:Cep126	UTSW	9	8100908	missense	probably damaging	1.00
R2216:Cep126	UTSW	9	8120678	missense	probably damaging	1.00
R2260:Cep126	UTSW	9	8101748	missense	possibly damaging	0.50
R2444:Cep126	UTSW	9	8101306	missense	probably damaging	1.00
R4208:Cep126	UTSW	9	8100821	missense	probably damaging	1.00
R4499:Cep126	UTSW	9	8101588	missense	possibly damaging	0.80
R4585:Cep126	UTSW	9	8103337	missense	probably damaging	0.99
R5547:Cep126	UTSW	9	8100427	missense	probably damaging	0.97
R5752:Cep126	UTSW	9	8120745	nonsense	probably null
R5794:Cep126	UTSW	9	8103439	missense	possibly damaging	0.64
R5932:Cep126	UTSW	9	8103508	missense	probably damaging	1.00
R5956:Cep126	UTSW	9	8112119	missense	probably benign	0.08
R6354:Cep126	UTSW	9	8099927	missense	probably damaging	1.00
R6442:Cep126	UTSW	9	8100563	missense	probably benign	0.14
R6964:Cep126	UTSW	9	8112100	missense	probably null	0.99
R7134:Cep126	UTSW	9	8103382	missense	probably damaging	1.00
R7161:Cep126	UTSW	9	8087399	missense	probably benign	0.02
R7221:Cep126	UTSW	9	8100987	nonsense	probably null
R7338:Cep126	UTSW	9	8099798	missense	possibly damaging	0.50
R7473:Cep126	UTSW	9	8101778	missense	probably damaging	1.00
R7860:Cep126	UTSW	9	8120748	missense	probably damaging	1.00
R7974:Cep126	UTSW	9	8120763	missense	probably benign	0.37
R8150:Cep126	UTSW	9	8101790	missense	probably benign	0.04
R8204:Cep126	UTSW	9	8120780	missense	probably damaging	1.00
R8699:Cep126	UTSW	9	8087361	missense	probably damaging	1.00
R8858:Cep126	UTSW	9	8130269	missense	probably benign
R9064:Cep126	UTSW	9	8103340	missense	possibly damaging	0.94
R9355:Cep126	UTSW	9	8100037	missense	possibly damaging	0.74
X0060:Cep126	UTSW	9	8087255	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGGATTTAGAGCTACTGAGATC -3'
(R):5'- AGTAGTCTCCCGTTCTCAGACAC -3'

Sequencing Primer
(F):5'- ATCTGTAACTCAAGGTGCATGG -3'
(R):5'- CGTTCTCAGACACCTGTTCTAAC -3'

Posted On

2019-09-13