Mutagenetix > Incidental Mutation

Incidental Mutation 'R1288:Cep126'

150672

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

039354-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8076462-8134295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8112182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 130 (N130K)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably benign
Transcript: ENSMUST00000037397
AA Change: N130K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: N130K

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: 98.9%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	T	5: 129,206,071 (GRCm39)	D247V	probably damaging	Het
Ano5	A	T	7: 51,196,620 (GRCm39)	S184C	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Atxn3	C	T	12: 101,908,437 (GRCm39)		probably null	Het
BC005537	A	T	13: 24,988,883 (GRCm39)	E54V	probably damaging	Het
Ccdc150	A	T	1: 54,403,617 (GRCm39)	E881V	probably damaging	Het
Enoph1	A	G	5: 100,188,138 (GRCm39)	T21A	possibly damaging	Het
Fbxw28	A	G	9: 109,166,361 (GRCm39)	I165T	probably damaging	Het
Lrp12	A	T	15: 39,741,799 (GRCm39)	N305K	probably damaging	Het
Msl2	A	G	9: 100,979,308 (GRCm39)	T561A	probably benign	Het
Mup21	G	T	4: 62,068,934 (GRCm39)	A19E	probably benign	Het
Myh13	T	C	11: 67,244,544 (GRCm39)	I1027T	probably benign	Het
Nkg7	A	G	7: 43,087,086 (GRCm39)		probably null	Het
Nme8	A	G	13: 19,858,619 (GRCm39)	V73A	possibly damaging	Het
Or2g1	T	A	17: 38,106,584 (GRCm39)	L83Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,114 (GRCm39)	T151A	probably benign	Het
Or52a5	A	T	7: 103,427,249 (GRCm39)	L101Q	possibly damaging	Het
Or5w12	G	A	2: 87,501,916 (GRCm39)	A265V	probably benign	Het
Or6c69c	A	G	10: 129,911,154 (GRCm39)	N292D	probably damaging	Het
Rapgef3	C	A	15: 97,657,223 (GRCm39)	S267I	probably benign	Het
Trhde	T	A	10: 114,637,195 (GRCm39)	D4V	probably benign	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp40	T	A	17: 23,401,136 (GRCm39)	I36L	probably benign	Het

Other mutations in Cep126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Cep126	APN	9	8,103,320 (GRCm39)	missense	possibly damaging	0.57
IGL01967:Cep126	APN	9	8,095,209 (GRCm39)	splice site	probably null
IGL02065:Cep126	APN	9	8,099,925 (GRCm39)	missense	probably benign	0.09
IGL03215:Cep126	APN	9	8,100,531 (GRCm39)	nonsense	probably null
R0064:Cep126	UTSW	9	8,130,183 (GRCm39)	splice site	probably benign
R0064:Cep126	UTSW	9	8,130,183 (GRCm39)	splice site	probably benign
R0184:Cep126	UTSW	9	8,103,396 (GRCm39)	missense	probably benign	0.19
R0835:Cep126	UTSW	9	8,130,224 (GRCm39)	missense	probably damaging	1.00
R0980:Cep126	UTSW	9	8,100,720 (GRCm39)	missense	probably damaging	0.99
R1341:Cep126	UTSW	9	8,099,777 (GRCm39)	missense	possibly damaging	0.78
R1351:Cep126	UTSW	9	8,100,087 (GRCm39)	missense	probably damaging	0.99
R1484:Cep126	UTSW	9	8,100,554 (GRCm39)	missense	possibly damaging	0.81
R1707:Cep126	UTSW	9	8,100,383 (GRCm39)	missense	probably benign	0.00
R1732:Cep126	UTSW	9	8,099,762 (GRCm39)	missense	probably benign
R1903:Cep126	UTSW	9	8,120,748 (GRCm39)	missense	possibly damaging	0.58
R1968:Cep126	UTSW	9	8,100,909 (GRCm39)	missense	probably damaging	1.00
R2216:Cep126	UTSW	9	8,120,679 (GRCm39)	missense	probably damaging	1.00
R2260:Cep126	UTSW	9	8,101,749 (GRCm39)	missense	possibly damaging	0.50
R2444:Cep126	UTSW	9	8,101,307 (GRCm39)	missense	probably damaging	1.00
R4208:Cep126	UTSW	9	8,100,822 (GRCm39)	missense	probably damaging	1.00
R4499:Cep126	UTSW	9	8,101,589 (GRCm39)	missense	possibly damaging	0.80
R4585:Cep126	UTSW	9	8,103,338 (GRCm39)	missense	probably damaging	0.99
R5547:Cep126	UTSW	9	8,100,428 (GRCm39)	missense	probably damaging	0.97
R5752:Cep126	UTSW	9	8,120,746 (GRCm39)	nonsense	probably null
R5794:Cep126	UTSW	9	8,103,440 (GRCm39)	missense	possibly damaging	0.64
R5932:Cep126	UTSW	9	8,103,509 (GRCm39)	missense	probably damaging	1.00
R5956:Cep126	UTSW	9	8,112,120 (GRCm39)	missense	probably benign	0.08
R6354:Cep126	UTSW	9	8,099,928 (GRCm39)	missense	probably damaging	1.00
R6442:Cep126	UTSW	9	8,100,564 (GRCm39)	missense	probably benign	0.14
R6964:Cep126	UTSW	9	8,112,101 (GRCm39)	missense	probably null	0.99
R7134:Cep126	UTSW	9	8,103,383 (GRCm39)	missense	probably damaging	1.00
R7161:Cep126	UTSW	9	8,087,400 (GRCm39)	missense	probably benign	0.02
R7221:Cep126	UTSW	9	8,100,988 (GRCm39)	nonsense	probably null
R7338:Cep126	UTSW	9	8,099,799 (GRCm39)	missense	possibly damaging	0.50
R7345:Cep126	UTSW	9	8,099,817 (GRCm39)	missense	probably damaging	1.00
R7473:Cep126	UTSW	9	8,101,779 (GRCm39)	missense	probably damaging	1.00
R7860:Cep126	UTSW	9	8,120,749 (GRCm39)	missense	probably damaging	1.00
R7974:Cep126	UTSW	9	8,120,764 (GRCm39)	missense	probably benign	0.37
R8150:Cep126	UTSW	9	8,101,791 (GRCm39)	missense	probably benign	0.04
R8204:Cep126	UTSW	9	8,120,781 (GRCm39)	missense	probably damaging	1.00
R8699:Cep126	UTSW	9	8,087,362 (GRCm39)	missense	probably damaging	1.00
R8858:Cep126	UTSW	9	8,130,270 (GRCm39)	missense	probably benign
R9064:Cep126	UTSW	9	8,103,341 (GRCm39)	missense	possibly damaging	0.94
R9355:Cep126	UTSW	9	8,100,038 (GRCm39)	missense	possibly damaging	0.74
X0060:Cep126	UTSW	9	8,087,256 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGGTAGTGGTCAGCCTAACC -3'
(R):5'- AGATGATTCAGAGGGCATCACTTGC -3'

Sequencing Primer
(F):5'- GTGGTCAGCCTAACCACTTTAAC -3'
(R):5'- AACAGCACCTGTGTTAGGC -3'

Posted On

2014-01-29