Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Cep85l'

503208

Institutional Source

Beutler Lab

Gene Symbol

Cep85l

Ensembl Gene

ENSMUSG00000038594

Gene Name

centrosomal protein 85-like

Synonyms

Gm9766

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53149539-53256043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53157651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 684 (Y684C)

Ref Sequence

ENSEMBL: ENSMUSP00000151909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095691] [ENSMUST00000220376] [ENSMUST00000220443]

AlphaFold

A0A1W2P884

Predicted Effect

probably benign
Transcript: ENSMUST00000095691
AA Change: Y582C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: Y582C

Domain	Start	End	E-Value	Type
coiled coil region	442	578	N/A	INTRINSIC
coiled coil region	600	645	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219673

Predicted Effect

probably benign
Transcript: ENSMUST00000220376
AA Change: Y582C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220443
AA Change: Y684C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (GRCm39)		probably benign	Het

Other mutations in Cep85l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
debauchery	UTSW	10	53,224,911 (GRCm39)	missense	possibly damaging	0.77
saturnalia	UTSW	10	53,195,690 (GRCm39)	splice site	probably null
R0103:Cep85l	UTSW	10	53,154,270 (GRCm39)	missense	possibly damaging	0.53
R0103:Cep85l	UTSW	10	53,154,270 (GRCm39)	missense	possibly damaging	0.53
R0559:Cep85l	UTSW	10	53,224,597 (GRCm39)	missense	probably benign	0.00
R0689:Cep85l	UTSW	10	53,224,943 (GRCm39)	missense	probably damaging	1.00
R0750:Cep85l	UTSW	10	53,157,642 (GRCm39)	missense	probably damaging	0.99
R0969:Cep85l	UTSW	10	53,157,592 (GRCm39)	missense	probably benign	0.00
R1375:Cep85l	UTSW	10	53,225,354 (GRCm39)	missense	probably damaging	0.99
R1542:Cep85l	UTSW	10	53,177,680 (GRCm39)	missense	probably damaging	1.00
R1611:Cep85l	UTSW	10	53,224,777 (GRCm39)	missense	probably benign
R1749:Cep85l	UTSW	10	53,154,250 (GRCm39)	missense	probably damaging	1.00
R1826:Cep85l	UTSW	10	53,224,908 (GRCm39)	missense	possibly damaging	0.89
R2007:Cep85l	UTSW	10	53,154,171 (GRCm39)	utr 3 prime	probably benign
R2043:Cep85l	UTSW	10	53,234,224 (GRCm39)	missense	possibly damaging	0.64
R2144:Cep85l	UTSW	10	53,234,222 (GRCm39)	missense	probably benign	0.04
R2186:Cep85l	UTSW	10	53,224,714 (GRCm39)	missense	probably damaging	0.97
R2201:Cep85l	UTSW	10	53,224,827 (GRCm39)	missense	probably benign	0.01
R3767:Cep85l	UTSW	10	53,167,906 (GRCm39)	missense	probably benign	0.09
R5249:Cep85l	UTSW	10	53,195,690 (GRCm39)	splice site	probably null
R5764:Cep85l	UTSW	10	53,225,090 (GRCm39)	missense	probably benign	0.00
R6333:Cep85l	UTSW	10	53,225,197 (GRCm39)	nonsense	probably null
R6422:Cep85l	UTSW	10	53,167,876 (GRCm39)	missense	possibly damaging	0.62
R6511:Cep85l	UTSW	10	53,154,188 (GRCm39)	missense	probably benign	0.00
R6645:Cep85l	UTSW	10	53,177,768 (GRCm39)	missense	probably benign	0.26
R6863:Cep85l	UTSW	10	53,225,214 (GRCm39)	missense	probably damaging	1.00
R6904:Cep85l	UTSW	10	53,225,194 (GRCm39)	missense	probably benign	0.00
R7000:Cep85l	UTSW	10	53,174,295 (GRCm39)	missense	probably damaging	1.00
R7015:Cep85l	UTSW	10	53,225,151 (GRCm39)	missense	possibly damaging	0.89
R7256:Cep85l	UTSW	10	53,172,351 (GRCm39)	missense	probably damaging	1.00
R7425:Cep85l	UTSW	10	53,177,666 (GRCm39)	missense	probably damaging	1.00
R7583:Cep85l	UTSW	10	53,157,450 (GRCm39)	missense	probably damaging	1.00
R7796:Cep85l	UTSW	10	53,157,497 (GRCm39)	missense	probably damaging	0.96
R7960:Cep85l	UTSW	10	53,172,403 (GRCm39)	missense	probably benign
R7969:Cep85l	UTSW	10	53,174,280 (GRCm39)	missense	probably damaging	1.00
R8042:Cep85l	UTSW	10	53,224,759 (GRCm39)	missense	probably damaging	1.00
R8103:Cep85l	UTSW	10	53,175,420 (GRCm39)	splice site	probably null
R8251:Cep85l	UTSW	10	53,157,450 (GRCm39)	missense	probably damaging	1.00
R8460:Cep85l	UTSW	10	53,225,313 (GRCm39)	missense	probably benign	0.18
R8698:Cep85l	UTSW	10	53,234,201 (GRCm39)	missense	probably damaging	0.98
R8814:Cep85l	UTSW	10	53,225,065 (GRCm39)	missense	probably benign	0.00
R8888:Cep85l	UTSW	10	53,224,911 (GRCm39)	missense	possibly damaging	0.77
R8895:Cep85l	UTSW	10	53,224,911 (GRCm39)	missense	possibly damaging	0.77
R9090:Cep85l	UTSW	10	53,157,670 (GRCm39)	nonsense	probably null
R9271:Cep85l	UTSW	10	53,157,670 (GRCm39)	nonsense	probably null
R9293:Cep85l	UTSW	10	53,174,282 (GRCm39)	missense	probably damaging	1.00
R9478:Cep85l	UTSW	10	53,224,875 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCACTTACATCGGATTCCCAG -3'
(R):5'- CCCTACTGAATGTGTGCAGC -3'

Sequencing Primer
(F):5'- TAACAATGAGAGGTTAGGCTCCTTGC -3'
(R):5'- CTACTGAATGTGTGCAGCTGAATTTG -3'

Posted On

2018-02-27