Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Cep126'

557585

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 #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8076461-8134294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8087399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1005 (V1005M)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably benign
Transcript: ENSMUST00000037397
AA Change: V1005M

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: V1005M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	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
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'- ACAGTATAGCCTTTCATCGAGG -3'
(R):5'- AGACAGCTTCAGTGTACTCATATAC -3'

Sequencing Primer
(F):5'- AGGTGATGGAGTGACTTCAGGATC -3'
(R):5'- CAGAATATTTGCTGGCTTCT -3'

Posted On

2019-06-26