Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Cep126'

512970

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

044506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8076462-8134295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8099928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 869 (S869P)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037397
AA Change: S869P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: S869P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214150

Meta Mutation Damage Score

0.1362

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,685,042 (GRCm39)	K152E	probably benign	Het
Adamts20	C	A	15: 94,245,691 (GRCm39)	C537F	probably damaging	Het
Apc	A	T	18: 34,445,581 (GRCm39)	T808S	probably benign	Het
Atad3a	A	G	4: 155,838,402 (GRCm39)	I205T	possibly damaging	Het
Casz1	G	T	4: 149,036,999 (GRCm39)	G1754C	unknown	Het
Ccdc62	C	T	5: 124,082,267 (GRCm39)	A232V	probably damaging	Het
Cdc27	C	A	11: 104,425,574 (GRCm39)	D81Y	probably damaging	Het
Cfap251	C	T	5: 123,440,818 (GRCm39)	T1125I	probably damaging	Het
Ciita	A	T	16: 10,341,610 (GRCm39)	K983N	probably damaging	Het
Cimap1a	A	G	7: 140,430,527 (GRCm39)		probably null	Het
Clstn1	A	C	4: 149,727,673 (GRCm39)	Q523P	probably benign	Het
Cpb2	T	C	14: 75,495,145 (GRCm39)		probably null	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Csmd3	C	T	15: 47,744,885 (GRCm39)	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,115,912 (GRCm39)	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,344,441 (GRCm39)	F475L	probably damaging	Het
Fam98c	C	T	7: 28,852,272 (GRCm39)	V298M	probably damaging	Het
Gcsh	T	C	8: 117,710,582 (GRCm39)	N127S	probably benign	Het
Gimap4	T	C	6: 48,663,814 (GRCm39)	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,424,755 (GRCm39)	A468T	probably damaging	Het
Gm5111	G	A	6: 48,567,268 (GRCm39)		probably benign	Het
Gm7137	C	A	10: 77,623,481 (GRCm39)		probably benign	Het
Inpp1	A	G	1: 52,836,224 (GRCm39)	S81P	probably damaging	Het
Iqce	T	C	5: 140,662,090 (GRCm39)		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap13	C	A	16: 88,548,131 (GRCm39)	C119F	probably damaging	Het
Lama2	G	T	10: 27,088,064 (GRCm39)	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,355,213 (GRCm39)	I2535F	unknown	Het
Lrrc40	T	A	3: 157,766,901 (GRCm39)	L452*	probably null	Het
Meis1	A	T	11: 18,966,184 (GRCm39)	M63K	possibly damaging	Het
Mpo	T	A	11: 87,688,172 (GRCm39)	I277N	possibly damaging	Het
Mtmr11	T	A	3: 96,075,992 (GRCm39)	F406I	probably benign	Het
Muc4	T	C	16: 32,575,476 (GRCm39)	S1411P	probably benign	Het
Or2y1b	A	T	11: 49,208,465 (GRCm39)	I31F	probably damaging	Het
Or4c102	T	A	2: 88,422,478 (GRCm39)	I110N	probably damaging	Het
Or56a5	G	A	7: 104,792,915 (GRCm39)	T195I	probably benign	Het
Phf21a	G	A	2: 92,179,282 (GRCm39)	G298R	probably damaging	Het
Phldb2	T	C	16: 45,645,477 (GRCm39)	Y368C	probably damaging	Het
Pik3cb	G	T	9: 98,955,696 (GRCm39)	T407K	probably benign	Het
Robo3	A	T	9: 37,328,513 (GRCm39)		probably benign	Het
Sgsm1	T	G	5: 113,430,522 (GRCm39)	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,584,061 (GRCm39)	S410P	probably damaging	Het
Tmc6	A	C	11: 117,665,062 (GRCm39)	C404G	probably benign	Het
Tnrc6c	A	T	11: 117,640,440 (GRCm39)	Q1410L	possibly damaging	Het
Trak1	A	T	9: 121,280,792 (GRCm39)	T384S	probably null	Het
Txlna	A	T	4: 129,528,205 (GRCm39)	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,868,581 (GRCm39)	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,589,574 (GRCm39)	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,399,747 (GRCm39)		probably null	Het
Vps36	T	C	8: 22,695,771 (GRCm39)	S109P	probably damaging	Het
Wrn	T	C	8: 33,833,666 (GRCm39)	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,360,903 (GRCm39)	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743 (GRCm39)	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,467,011 (GRCm39)	S2390P	probably benign	Het
Zfp619	C	A	7: 39,184,243 (GRCm39)	T91K	probably benign	Het
Zfp644	A	G	5: 106,784,619 (GRCm39)	S643P	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
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
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'- ACCAGTGGTTCTCTCATTTTGG -3'
(R):5'- CACAGTGGCCCAAACTCAGG -3'

Sequencing Primer
(F):5'- CAGTGGTTCTCTCATTTTGGTGTCC -3'
(R):5'- TGCAAGTGTCTCCAGGTCAATCAG -3'

Posted On

2018-04-27