Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Cep57l1'

88541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep57l1

Ensembl Gene

ENSMUSG00000019813

Gene Name

centrosomal protein 57-like 1

Synonyms

4930484D11Rik, 2410017P07Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

41718840-41809871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41728639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 165 (K165E)

Ref Sequence

ENSEMBL: ENSMUSP00000141031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019951] [ENSMUST00000105505] [ENSMUST00000186239] [ENSMUST00000187143] [ENSMUST00000189770] [ENSMUST00000190022] [ENSMUST00000191498]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019951
AA Change: K241E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: K241E

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	227	1.2e-64	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Cep57_MT_bd	283	356	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105505

SMART Domains

Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	223	1.1e-66	PFAM
Pfam:Cep57_MT_bd	252	327	6.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186239
AA Change: K241E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: K241E

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	227	2.3e-72	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Cep57_MT_bd	281	356	1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187143

SMART Domains

Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	223	1.1e-66	PFAM
Pfam:Cep57_MT_bd	252	327	6.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188463

Predicted Effect

probably benign
Transcript: ENSMUST00000189770

SMART Domains

Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	223	1.1e-66	PFAM
Pfam:Cep57_MT_bd	252	327	6.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190022
AA Change: K165E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: K165E

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	45	151	6.6e-38	PFAM
low complexity region	158	169	N/A	INTRINSIC
Pfam:Cep57_MT_bd	205	280	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191498

SMART Domains

Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	50	229	1.9e-65	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Cep57l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cep57l1	APN	10	41721551	intron	probably benign
IGL00679:Cep57l1	APN	10	41719800	nonsense	probably null
IGL00839:Cep57l1	APN	10	41731093	missense	probably damaging	1.00
IGL01013:Cep57l1	APN	10	41740869	nonsense	probably null
IGL01830:Cep57l1	APN	10	41728653	missense	probably benign	0.03
IGL02005:Cep57l1	APN	10	41740961	missense	probably benign	0.39
IGL02679:Cep57l1	APN	10	41729386	missense	probably damaging	1.00
IGL02697:Cep57l1	APN	10	41722954	missense	possibly damaging	0.83
IGL03328:Cep57l1	APN	10	41743152	missense	probably damaging	1.00
R2147:Cep57l1	UTSW	10	41740899	missense	probably damaging	0.97
R3712:Cep57l1	UTSW	10	41743114	missense	probably damaging	1.00
R4049:Cep57l1	UTSW	10	41729360	missense	probably damaging	1.00
R4050:Cep57l1	UTSW	10	41729360	missense	probably damaging	1.00
R4661:Cep57l1	UTSW	10	41719771	missense	possibly damaging	0.91
R4764:Cep57l1	UTSW	10	41721682	missense	possibly damaging	0.81
R4929:Cep57l1	UTSW	10	41745914	missense	possibly damaging	0.93
R6058:Cep57l1	UTSW	10	41740922	missense	possibly damaging	0.87
R6386:Cep57l1	UTSW	10	41743132	missense	probably damaging	1.00
R6788:Cep57l1	UTSW	10	41743149	missense	probably damaging	1.00
R7334:Cep57l1	UTSW	10	41721600	missense	probably benign	0.00
R7724:Cep57l1	UTSW	10	41745842	missense	possibly damaging	0.65
R7738:Cep57l1	UTSW	10	41740846	missense	probably damaging	1.00
R7792:Cep57l1	UTSW	10	41722940	nonsense	probably null
R8191:Cep57l1	UTSW	10	41740959	missense	probably damaging	1.00
R9026:Cep57l1	UTSW	10	41731090	missense	probably damaging	1.00
R9289:Cep57l1	UTSW	10	41731086	missense	probably damaging	0.98

Posted On

2013-11-18