Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Cep126'

541895

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8076462-8134295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 8112101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 157 (H157Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably null
Transcript: ENSMUST00000037397
AA Change: H157Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: H157Q

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably 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
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
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'- AGACATTCATACCCATGCAGAG -3'
(R):5'- TTGAGACCATGAAAGCAAATACCG -3'

Sequencing Primer
(F):5'- TTCATACCCATGCAGAGACACAC -3'
(R):5'- AGAGCCTTGAAATATTTTATTGGCC -3'

Posted On

2018-11-28