Mutagenetix > Incidental Mutation

Incidental Mutation 'R1903:Cep126'

209945

Institutional Source

Beutler Lab

Gene Symbol

Cep126

Ensembl Gene

ENSMUSG00000040729

Gene Name

centrosomal protein 126

Synonyms

AK129341

MMRRC Submission

039923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8076461-8134294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8120747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 92 (Y92N)

Ref Sequence

ENSEMBL: ENSMUSP00000042904 (fasta)

Gene Model

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

AlphaFold

Q0VBV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037397
AA Change: Y92N

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: Y92N

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: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,258,352 (GRCm38)	S246R	possibly damaging	Het
Abca13	C	T	11: 9,466,411 (GRCm38)	R4058C	probably benign	Het
Acacb	A	T	5: 114,165,734 (GRCm38)	R73*	probably null	Het
Adam22	C	T	5: 8,134,525 (GRCm38)	C489Y	probably damaging	Het
Agap3	A	T	5: 24,493,013 (GRCm38)	K460I	probably damaging	Het
Ak4	T	C	4: 101,463,636 (GRCm38)	I214T	possibly damaging	Het
Anpep	C	T	7: 79,838,256 (GRCm38)	E518K	probably benign	Het
Arrb2	T	A	11: 70,437,982 (GRCm38)	H221Q	probably damaging	Het
Atl1	T	G	12: 69,959,275 (GRCm38)	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063 (GRCm38)	T604A	probably damaging	Het
Bglap3	T	C	3: 88,368,761 (GRCm38)	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,461,788 (GRCm38)	M532I	probably benign	Het
Ccnl1	A	G	3: 65,946,911 (GRCm38)	S430P	possibly damaging	Het
Cdhr18	C	T	14: 13,829,657 (GRCm38)	S695N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,403,554 (GRCm38)		probably null	Het
Cfap44	A	C	16: 44,422,374 (GRCm38)	T714P	probably benign	Het
Cnga1	T	G	5: 72,616,725 (GRCm38)	D90A	possibly damaging	Het
Cnot1	T	C	8: 95,743,121 (GRCm38)	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466 (GRCm38)	S314P	probably damaging	Het
Crhr1	A	G	11: 104,169,849 (GRCm38)	R151G	probably damaging	Het
Crybg2	A	G	4: 134,078,856 (GRCm38)	I930V	probably damaging	Het
Ctcf	T	A	8: 105,675,988 (GRCm38)		probably null	Het
Dct	T	C	14: 118,034,278 (GRCm38)	N380S	probably benign	Het
Decr2	A	T	17: 26,087,413 (GRCm38)	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407 (GRCm38)		probably benign	Het
Dgkb	T	C	12: 38,166,777 (GRCm38)		probably null	Het
Dnah1	T	C	14: 31,319,759 (GRCm38)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,535,478 (GRCm38)	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,228,937 (GRCm38)	L346R	probably damaging	Het
Dsc1	A	T	18: 20,095,988 (GRCm38)	V415D	probably damaging	Het
Duox2	T	A	2: 122,295,351 (GRCm38)	I296F	probably damaging	Het
Ece2	T	A	16: 20,645,172 (GRCm38)	L890H	probably damaging	Het
Ecsit	A	G	9: 22,076,519 (GRCm38)	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,778,789 (GRCm38)	C664R	probably damaging	Het
Evpl	G	T	11: 116,227,028 (GRCm38)	D778E	probably damaging	Het
Eya3	T	A	4: 132,721,352 (GRCm38)		probably null	Het
Fam217b	A	T	2: 178,420,581 (GRCm38)	I113F	probably benign	Het
Galnt6	G	A	15: 100,716,118 (GRCm38)	P101S	possibly damaging	Het
Gm379	G	A	X: 108,664,264 (GRCm38)	Q210*	probably null	Het
Grk4	A	T	5: 34,676,187 (GRCm38)		probably null	Het
Gtf3c4	A	G	2: 28,839,956 (GRCm38)	V91A	probably benign	Het
Hcfc2	G	T	10: 82,702,558 (GRCm38)	G143V	probably damaging	Het
Heatr4	A	C	12: 83,958,447 (GRCm38)	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,906,381 (GRCm38)	D97E	probably damaging	Het
Htr4	T	G	18: 62,428,122 (GRCm38)	F151L	probably benign	Het
Il22ra1	A	T	4: 135,750,908 (GRCm38)	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824 (GRCm38)		probably null	Het
Ip6k1	G	A	9: 108,040,996 (GRCm38)	E77K	possibly damaging	Het
Irs1	T	C	1: 82,289,461 (GRCm38)	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,160,399 (GRCm38)	V490A	probably benign	Het
Kif26a	C	T	12: 112,175,540 (GRCm38)	R743C	probably damaging	Het
Kif28	A	G	1: 179,702,523 (GRCm38)	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,166,987 (GRCm38)	L696Q	probably benign	Het
Krtap5-1	T	C	7: 142,296,347 (GRCm38)		probably benign	Het
Lama2	A	C	10: 27,188,399 (GRCm38)	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,329,210 (GRCm38)	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,623,780 (GRCm38)	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,830,105 (GRCm38)	E422G	probably benign	Het
Man2b1	T	A	8: 85,086,822 (GRCm38)	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,133,568 (GRCm38)	D628V	possibly damaging	Het
Msantd5f6	T	A	4: 73,403,438 (GRCm38)	Y120F	probably damaging	Het
Myo18b	G	A	5: 112,692,758 (GRCm38)	R2390C	probably damaging	Het
Mypn	T	A	10: 63,123,397 (GRCm38)	R1048S	probably benign	Het
Napepld	A	G	5: 21,665,272 (GRCm38)	S383P	probably damaging	Het
Napsa	A	G	7: 44,581,736 (GRCm38)	T130A	probably damaging	Het
Nbr1	T	C	11: 101,575,152 (GRCm38)	I716T	probably damaging	Het
Nexn	A	T	3: 152,248,181 (GRCm38)	M212K	probably damaging	Het
Nlrp9b	T	A	7: 20,023,257 (GRCm38)	S140T	probably benign	Het
Nxpe2	T	C	9: 48,319,606 (GRCm38)	T488A	probably benign	Het
Or10g3	T	G	14: 52,372,717 (GRCm38)	Q112P	possibly damaging	Het
Or10v1	A	T	19: 11,896,549 (GRCm38)	Y176F	probably benign	Het
Or5ac25	A	T	16: 59,362,163 (GRCm38)	D18E	probably benign	Het
Or7g12	A	T	9: 18,988,896 (GRCm38)	K303*	probably null	Het
Or8k20	C	T	2: 86,275,846 (GRCm38)	V214I	probably benign	Het
Osbpl5	T	C	7: 143,703,181 (GRCm38)	D404G	possibly damaging	Het
Pan2	T	G	10: 128,308,368 (GRCm38)	L162R	probably damaging	Het
Parp1	G	T	1: 180,588,670 (GRCm38)	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,755,447 (GRCm38)	V473A	probably benign	Het
Plb1	A	T	5: 32,291,238 (GRCm38)	N350I	probably damaging	Het
Polr1a	A	G	6: 71,967,914 (GRCm38)	K1318R	probably benign	Het
Ppp1r18	C	T	17: 35,873,846 (GRCm38)	P130S	probably damaging	Het
Prss48	C	T	3: 85,998,307 (GRCm38)	W86*	probably null	Het
Rab3c	A	T	13: 110,084,210 (GRCm38)	I137N	probably damaging	Het
Rab3gap2	G	C	1: 185,221,902 (GRCm38)	R57P	probably benign	Het
Rad54l2	A	C	9: 106,693,717 (GRCm38)		probably null	Het
Ralgapb	C	A	2: 158,495,563 (GRCm38)	N1147K	probably benign	Het
Rfx7	C	T	9: 72,616,811 (GRCm38)	R428C	probably damaging	Het
Robo1	A	G	16: 72,960,204 (GRCm38)	Q351R	probably null	Het
Samd4	T	C	14: 47,074,128 (GRCm38)	F81S	probably damaging	Het
Shprh	T	A	10: 11,183,797 (GRCm38)	Y1097*	probably null	Het
Sik3	C	G	9: 46,221,089 (GRCm38)	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,131,617 (GRCm38)	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254 (GRCm38)	I286F	probably benign	Het
Smarca1	G	A	X: 47,849,963 (GRCm38)	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,718,068 (GRCm38)	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,835,975 (GRCm38)	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,947,912 (GRCm38)	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998 (GRCm38)	M462T	probably benign	Het
Thoc2l	T	A	5: 104,518,330 (GRCm38)	S239R	probably benign	Het
Tmem171	C	A	13: 98,686,416 (GRCm38)	G292*	probably null	Het
Tmtc2	G	T	10: 105,190,108 (GRCm38)	T833N	probably benign	Het
Tnc	G	T	4: 64,000,062 (GRCm38)	T1204K	probably benign	Het
Tnfaip3	T	C	10: 19,008,189 (GRCm38)	K148E	probably benign	Het
Tnrc18	G	A	5: 142,815,140 (GRCm38)	S21F	probably damaging	Het
Tns4	T	C	11: 99,075,575 (GRCm38)	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948 (GRCm38)	Y472F	probably damaging	Het
Trak2	A	T	1: 58,918,855 (GRCm38)		probably null	Het
Trim33	T	A	3: 103,337,444 (GRCm38)	Y716N	probably damaging	Het
Trrap	T	G	5: 144,816,053 (GRCm38)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,251,732 (GRCm38)	E137G	probably benign	Het
Ube2j2	A	G	4: 155,949,026 (GRCm38)	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889 (GRCm38)	I206T	possibly damaging	Het
Usp40	A	G	1: 87,982,056 (GRCm38)	F559L	probably benign	Het
Utp4	T	A	8: 106,912,350 (GRCm38)		probably null	Het
Vac14	A	G	8: 110,682,534 (GRCm38)	N524S	probably benign	Het
Vps13c	T	C	9: 67,894,052 (GRCm38)	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,604,832 (GRCm38)	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,498,413 (GRCm38)	R28*	probably null	Het
Zfp106	T	C	2: 120,526,848 (GRCm38)	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511 (GRCm38)	Q205*	probably null	Het

Other mutations in Cep126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Cep126	APN	9	8,103,319 (GRCm38)	missense	possibly damaging	0.57
IGL01967:Cep126	APN	9	8,095,208 (GRCm38)	splice site	probably null
IGL02065:Cep126	APN	9	8,099,924 (GRCm38)	missense	probably benign	0.09
IGL03215:Cep126	APN	9	8,100,530 (GRCm38)	nonsense	probably null
R0064:Cep126	UTSW	9	8,130,182 (GRCm38)	splice site	probably benign
R0064:Cep126	UTSW	9	8,130,182 (GRCm38)	splice site	probably benign
R0184:Cep126	UTSW	9	8,103,395 (GRCm38)	missense	probably benign	0.19
R0835:Cep126	UTSW	9	8,130,223 (GRCm38)	missense	probably damaging	1.00
R0980:Cep126	UTSW	9	8,100,719 (GRCm38)	missense	probably damaging	0.99
R1288:Cep126	UTSW	9	8,112,181 (GRCm38)	missense	probably benign	0.01
R1341:Cep126	UTSW	9	8,099,776 (GRCm38)	missense	possibly damaging	0.78
R1351:Cep126	UTSW	9	8,100,086 (GRCm38)	missense	probably damaging	0.99
R1484:Cep126	UTSW	9	8,100,553 (GRCm38)	missense	possibly damaging	0.81
R1707:Cep126	UTSW	9	8,100,382 (GRCm38)	missense	probably benign	0.00
R1732:Cep126	UTSW	9	8,099,761 (GRCm38)	missense	probably benign
R1968:Cep126	UTSW	9	8,100,908 (GRCm38)	missense	probably damaging	1.00
R2216:Cep126	UTSW	9	8,120,678 (GRCm38)	missense	probably damaging	1.00
R2260:Cep126	UTSW	9	8,101,748 (GRCm38)	missense	possibly damaging	0.50
R2444:Cep126	UTSW	9	8,101,306 (GRCm38)	missense	probably damaging	1.00
R4208:Cep126	UTSW	9	8,100,821 (GRCm38)	missense	probably damaging	1.00
R4499:Cep126	UTSW	9	8,101,588 (GRCm38)	missense	possibly damaging	0.80
R4585:Cep126	UTSW	9	8,103,337 (GRCm38)	missense	probably damaging	0.99
R5547:Cep126	UTSW	9	8,100,427 (GRCm38)	missense	probably damaging	0.97
R5752:Cep126	UTSW	9	8,120,745 (GRCm38)	nonsense	probably null
R5794:Cep126	UTSW	9	8,103,439 (GRCm38)	missense	possibly damaging	0.64
R5932:Cep126	UTSW	9	8,103,508 (GRCm38)	missense	probably damaging	1.00
R5956:Cep126	UTSW	9	8,112,119 (GRCm38)	missense	probably benign	0.08
R6354:Cep126	UTSW	9	8,099,927 (GRCm38)	missense	probably damaging	1.00
R6442:Cep126	UTSW	9	8,100,563 (GRCm38)	missense	probably benign	0.14
R6964:Cep126	UTSW	9	8,112,100 (GRCm38)	missense	probably null	0.99
R7134:Cep126	UTSW	9	8,103,382 (GRCm38)	missense	probably damaging	1.00
R7161:Cep126	UTSW	9	8,087,399 (GRCm38)	missense	probably benign	0.02
R7221:Cep126	UTSW	9	8,100,987 (GRCm38)	nonsense	probably null
R7338:Cep126	UTSW	9	8,099,798 (GRCm38)	missense	possibly damaging	0.50
R7345:Cep126	UTSW	9	8,099,816 (GRCm38)	missense	probably damaging	1.00
R7473:Cep126	UTSW	9	8,101,778 (GRCm38)	missense	probably damaging	1.00
R7860:Cep126	UTSW	9	8,120,748 (GRCm38)	missense	probably damaging	1.00
R7974:Cep126	UTSW	9	8,120,763 (GRCm38)	missense	probably benign	0.37
R8150:Cep126	UTSW	9	8,101,790 (GRCm38)	missense	probably benign	0.04
R8204:Cep126	UTSW	9	8,120,780 (GRCm38)	missense	probably damaging	1.00
R8699:Cep126	UTSW	9	8,087,361 (GRCm38)	missense	probably damaging	1.00
R8858:Cep126	UTSW	9	8,130,269 (GRCm38)	missense	probably benign
R9064:Cep126	UTSW	9	8,103,340 (GRCm38)	missense	possibly damaging	0.94
R9355:Cep126	UTSW	9	8,100,037 (GRCm38)	missense	possibly damaging	0.74
X0060:Cep126	UTSW	9	8,087,255 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAACAGCACACCAGGCTG -3'
(R):5'- AAGTCTGAAATTGGCTGTGTCTAAG -3'

Sequencing Primer
(F):5'- GCACACCAGGCTGTTCCTAC -3'
(R):5'- ATTGGCTGTGTCTAAGTCAAATG -3'

Posted On

2014-06-30