Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Cep126'

241161

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8076461-8134294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8120678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 115 (R115C)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037397
AA Change: R115C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: R115C

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly damaging	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
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
R7345:Cep126	UTSW	9	8099816	missense	probably damaging	1.00
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'- TGGAGCCAACACAATATTTGCC -3'
(R):5'- GCGTTTTCAGACATCCGTTCTG -3'

Sequencing Primer
(F):5'- GAGCCAACACAATATTTGCCAAATTC -3'
(R):5'- AGACATCCGTTCTGCTTTGTTCAG -3'

Posted On

2014-10-15