Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Cep126'

579274

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

045547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8076462-8134295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8101779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 252 (E252K)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037397
AA Change: E252K

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

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: E252K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,965,960 (GRCm39)		probably null	Het
A630095N17Rik	G	A	1: 75,208,675 (GRCm39)	T15I	unknown	Het
Actr1b	A	G	1: 36,748,900 (GRCm39)	V12A	probably benign	Het
Add1	A	G	5: 34,776,697 (GRCm39)	T473A	possibly damaging	Het
Akap11	A	T	14: 78,751,328 (GRCm39)	V353E		Het
Alcam	G	A	16: 52,272,882 (GRCm39)		probably benign	Het
Alpi	A	G	1: 87,027,369 (GRCm39)		probably null	Het
Ap3s2	A	G	7: 79,565,779 (GRCm39)	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,037,886 (GRCm39)	K174E	probably benign	Het
Bbox1	A	T	2: 110,095,843 (GRCm39)	S374T	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp2	T	C	11: 78,157,941 (GRCm39)	S368P	possibly damaging	Het
Bmp2k	A	G	5: 97,204,871 (GRCm39)	N402S	probably benign	Het
Bmper	C	A	9: 23,286,926 (GRCm39)	A284D	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Bpifb2	A	T	2: 153,723,116 (GRCm39)	H124L	possibly damaging	Het
Bsn	C	T	9: 107,989,449 (GRCm39)	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,607,018 (GRCm39)	D67V	probably damaging	Het
Catsperg1	A	G	7: 28,894,903 (GRCm39)	S565P	probably damaging	Het
Cep55	G	A	19: 38,058,384 (GRCm39)	E326K	probably damaging	Het
Cfap58	T	A	19: 47,963,064 (GRCm39)	Y491*	probably null	Het
Cpeb2	T	C	5: 43,434,848 (GRCm39)	S747P		Het
Cryz	T	A	3: 154,312,157 (GRCm39)	S85T	probably benign	Het
D2hgdh	T	C	1: 93,765,800 (GRCm39)	V367A	probably damaging	Het
Dgkh	T	C	14: 78,836,483 (GRCm39)	N703S	probably benign	Het
Dnah11	T	C	12: 117,866,911 (GRCm39)	S4077G	probably benign	Het
Dnah14	A	G	1: 181,579,704 (GRCm39)	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,382,484 (GRCm39)	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,526,370 (GRCm39)	D804G	probably damaging	Het
Ell2	A	G	13: 75,898,154 (GRCm39)	E143G	probably damaging	Het
Exoc2	A	G	13: 31,006,613 (GRCm39)		probably null	Het
Fahd2a	A	T	2: 127,282,376 (GRCm39)	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,460,689 (GRCm39)	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,531,405 (GRCm39)	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,387,990 (GRCm39)	V170I	probably benign	Het
Gcn1	G	A	5: 115,719,863 (GRCm39)	V373M	probably benign	Het
Gm19965	A	G	1: 116,749,602 (GRCm39)	T428A	unknown	Het
Gm4792	A	G	10: 94,129,730 (GRCm39)	I124T	unknown	Het
Grik2	A	T	10: 48,989,618 (GRCm39)	C804S	probably benign	Het
Heatr6	T	A	11: 83,672,217 (GRCm39)	I1075N	probably damaging	Het
Hunk	G	A	16: 90,250,588 (GRCm39)	A211T	probably damaging	Het
Ighe	T	C	12: 113,234,976 (GRCm39)	I395V	probably damaging	Het
Ino80e	A	T	7: 126,456,484 (GRCm39)	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,408,534 (GRCm39)	Y305C	probably benign	Het
Insrr	T	A	3: 87,711,838 (GRCm39)		probably null	Het
Itgae	T	G	11: 73,031,504 (GRCm39)	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,705,141 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,006,630 (GRCm39)	K80M	probably benign	Het
Map2	A	T	1: 66,454,617 (GRCm39)	D1169V	probably damaging	Het
Mpst	G	T	15: 78,297,726 (GRCm39)	C248F	probably damaging	Het
Myo9a	C	A	9: 59,802,527 (GRCm39)	Q2005K	probably benign	Het
Nfatc4	C	T	14: 56,069,421 (GRCm39)	T649I	probably benign	Het
Nmt1	A	G	11: 102,937,226 (GRCm39)	R88G	probably benign	Het
Nqo1	G	A	8: 108,129,729 (GRCm39)		probably benign	Het
Nudt2	T	G	4: 41,477,576 (GRCm39)	M19R	probably benign	Het
Or10a49	T	A	7: 108,467,476 (GRCm39)	K295M	probably damaging	Het
Or12d2	T	A	17: 37,624,522 (GRCm39)	Y251F	probably benign	Het
Or9q2	C	T	19: 13,772,526 (GRCm39)	V150M	probably benign	Het
P2ry1	T	A	3: 60,911,509 (GRCm39)	I216N	probably damaging	Het
Pcx	T	A	19: 4,669,589 (GRCm39)	L823*	probably null	Het
Pkhd1	A	G	1: 20,619,980 (GRCm39)	V880A	probably damaging	Het
Plcb1	A	T	2: 135,186,196 (GRCm39)	N721I	probably damaging	Het
Prdm15	T	C	16: 97,623,046 (GRCm39)	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,785,996 (GRCm39)	V224A	possibly damaging	Het
Reln	A	G	5: 22,134,125 (GRCm39)	V2601A	probably benign	Het
Rspo4	G	A	2: 151,714,993 (GRCm39)	R210Q	unknown	Het
Slc7a5	A	T	8: 122,615,162 (GRCm39)	D228E	probably benign	Het
Spopfm2	T	A	3: 94,083,509 (GRCm39)	K101*	probably null	Het
Tas2r115	A	G	6: 132,714,214 (GRCm39)	S246P	probably damaging	Het
Tenm4	A	G	7: 96,423,353 (GRCm39)	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,108,923 (GRCm39)	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,889,841 (GRCm39)	I27T	probably benign	Het
Tigd5	G	A	15: 75,781,748 (GRCm39)	G37S	probably benign	Het
Tmem259	C	T	10: 79,815,506 (GRCm39)	D102N	possibly damaging	Het
Tpo	T	G	12: 30,142,589 (GRCm39)	I712L	probably benign	Het
Ttn	G	A	2: 76,700,892 (GRCm39)	T21M	possibly damaging	Het
Utp20	A	T	10: 88,656,572 (GRCm39)		probably null	Het
Xrcc5	A	G	1: 72,351,748 (GRCm39)	D106G	probably damaging	Het
Xrn1	T	A	9: 95,861,194 (GRCm39)	F451L	probably benign	Het
Zar1l	T	A	5: 150,441,203 (GRCm39)	D141V	probably damaging	Het
Zfp27	A	T	7: 29,595,324 (GRCm39)	C214S	possibly damaging	Het
Znfx1	A	T	2: 166,880,744 (GRCm39)	C1211S	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
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
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'- AGGCTGACTATTTTGAGCATCTAAG -3'
(R):5'- CATGGGGTGTGCTACAAAGG -3'

Sequencing Primer
(F):5'- TTGAGCATCTAAGTTTGTAAGCC -3'
(R):5'- TGGGGTGTGCTACAAAGGTGAAG -3'

Posted On

2019-10-07