Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Cep126'

16930

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0064 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

8076462-8134295 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 8130183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably benign
Transcript: ENSMUST00000037397

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729

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: 87.7%
3x: 83.1%
10x: 65.7%
20x: 35.9%

Validation Efficiency

92% (56/61)

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm270	C	A	13: 49,919,367 (GRCm39)		noncoding transcript	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	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
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
R1288:Cep126	UTSW	9	8,112,182 (GRCm39)	missense	probably benign	0.01
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

Posted On

2013-01-20