Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Cep85l'

266030

Institutional Source

Beutler Lab

Gene Symbol

Cep85l

Ensembl Gene

ENSMUSG00000038594

Gene Name

centrosomal protein 85-like

Synonyms

Gm9766

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53149539-53256043 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 53154171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151909 (fasta)

Gene Model

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

AlphaFold

A0A1W2P884

Predicted Effect

probably benign
Transcript: ENSMUST00000095691

SMART Domains

Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095691

SMART Domains

Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220443

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	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
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
R6207:Cep85l	UTSW	10	53,157,651 (GRCm39)	missense	probably benign
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

Posted On

2015-02-05