Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03328:Cep57l1'

416740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep57l1

Ensembl Gene

ENSMUSG00000019813

Gene Name

centrosomal protein 57-like 1

Synonyms

2410017P07Rik, 4930484D11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

41594836-41685867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41619148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 73 (E73G)

Ref Sequence

ENSEMBL: ENSMUSP00000140147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019951
AA Change: E73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: E73G

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 damaging
Transcript: ENSMUST00000105505
AA Change: E73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: E73G

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

probably damaging
Transcript: ENSMUST00000186239
AA Change: E73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: E73G

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 damaging
Transcript: ENSMUST00000187143
AA Change: E73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: E73G

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: ENSMUST00000188514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189222

Predicted Effect

probably damaging
Transcript: ENSMUST00000191498
AA Change: E73G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: E73G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189770
AA Change: E73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: E73G

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: ENSMUST00000190793

Predicted Effect

probably benign
Transcript: ENSMUST00000190022

SMART Domains

Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813

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

noncoding transcript
Transcript: ENSMUST00000215667

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,211,355 (GRCm39)	M1556L	probably benign	Het
Aicda	T	G	6: 122,539,396 (GRCm39)	D187E	probably benign	Het
Arfgap3	A	C	15: 83,227,282 (GRCm39)	F43L	probably damaging	Het
AW551984	T	C	9: 39,508,412 (GRCm39)	E368G	probably damaging	Het
Bbs4	T	C	9: 59,251,401 (GRCm39)	E33G	probably damaging	Het
Bcas1	T	A	2: 170,208,316 (GRCm39)	K437*	probably null	Het
Brwd1	A	T	16: 95,803,925 (GRCm39)	W2082R	probably damaging	Het
Card6	A	T	15: 5,134,927 (GRCm39)		probably benign	Het
Cd200r4	A	G	16: 44,653,882 (GRCm39)	I226M	possibly damaging	Het
Chaf1a	T	G	17: 56,370,374 (GRCm39)	F613C	probably damaging	Het
Clybl	G	T	14: 122,639,406 (GRCm39)	K323N	probably damaging	Het
Coa7	A	G	4: 108,195,479 (GRCm39)	D136G	probably damaging	Het
Col5a2	C	A	1: 45,415,306 (GRCm39)	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,993 (GRCm39)		probably benign	Het
Cyp4f17	T	G	17: 32,739,600 (GRCm39)	M174R	probably damaging	Het
Dnah10	A	T	5: 124,831,354 (GRCm39)	D794V	probably benign	Het
Eapp	A	G	12: 54,738,878 (GRCm39)	S87P	probably benign	Het
Efnb3	A	G	11: 69,448,031 (GRCm39)	I137T	probably damaging	Het
Eif4e	T	A	3: 138,259,488 (GRCm39)		probably benign	Het
Fam83b	T	A	9: 76,400,324 (GRCm39)	I260L	probably benign	Het
Fras1	A	G	5: 96,929,619 (GRCm39)	T4008A	probably damaging	Het
Fut8	A	T	12: 77,412,003 (GRCm39)	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,734,183 (GRCm39)	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685 (GRCm38)	*206C	probably null	Het
Gmip	G	A	8: 70,264,261 (GRCm39)	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,417,983 (GRCm39)		probably null	Het
Haao	C	T	17: 84,154,078 (GRCm39)	C23Y	probably damaging	Het
Hip1	A	T	5: 135,453,728 (GRCm39)	V400E	probably damaging	Het
Keg1	A	G	19: 12,696,461 (GRCm39)	N215S	probably damaging	Het
Lss	T	G	10: 76,376,785 (GRCm39)	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327 (GRCm39)	E77D	probably benign	Het
Myo3a	A	G	2: 22,468,210 (GRCm39)	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,403,677 (GRCm39)	E863G	possibly damaging	Het
Ncl	T	C	1: 86,280,319 (GRCm39)	Y496C	probably damaging	Het
Nefm	A	T	14: 68,358,739 (GRCm39)	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,834,096 (GRCm39)	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,168,643 (GRCm39)	E913*	probably null	Het
Nup205	T	C	6: 35,209,349 (GRCm39)	L1552P	probably damaging	Het
Or2t46	A	G	11: 58,472,539 (GRCm39)	N290D	probably damaging	Het
Or4c112	G	T	2: 88,854,199 (GRCm39)	Y49*	probably null	Het
Or52h7	T	A	7: 104,213,677 (GRCm39)	V83D	probably damaging	Het
Or7c70	C	T	10: 78,683,201 (GRCm39)	E183K	probably benign	Het
Osm	A	C	11: 4,188,426 (GRCm39)	I18L	unknown	Het
Otoa	T	A	7: 120,710,217 (GRCm39)	S254R	probably damaging	Het
Parp1	T	C	1: 180,427,155 (GRCm39)		probably benign	Het
Pcdh17	A	G	14: 84,770,551 (GRCm39)	I1010V	probably benign	Het
Peli2	A	T	14: 48,490,032 (GRCm39)		probably null	Het
Pkd1l3	T	G	8: 110,388,738 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,151,524 (GRCm39)		probably benign	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Potegl	A	T	2: 23,102,817 (GRCm39)	Y185F	possibly damaging	Het
Ptpn13	A	T	5: 103,664,214 (GRCm39)	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,350 (GRCm39)		probably null	Het
Rttn	T	G	18: 89,061,152 (GRCm39)	S1107A	probably benign	Het
Scn5a	G	T	9: 119,366,702 (GRCm39)	N328K	probably benign	Het
Sned1	G	A	1: 93,217,089 (GRCm39)	A1325T	probably benign	Het
St8sia4	T	A	1: 95,588,595 (GRCm39)	E80V	probably benign	Het
Stard7	T	C	2: 127,134,176 (GRCm39)		probably benign	Het
Suco	G	T	1: 161,647,990 (GRCm39)	P1099T	probably damaging	Het
Syn2	G	T	6: 115,251,221 (GRCm39)	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,780,041 (GRCm39)	I60L	probably benign	Het
Tomm70a	T	C	16: 56,965,150 (GRCm39)	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,564,102 (GRCm39)	D87V	probably benign	Het
Trgc4	A	G	13: 19,536,416 (GRCm39)	Y158C	unknown	Het
Trpm6	A	T	19: 18,815,446 (GRCm39)	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,273,499 (GRCm39)	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,525,220 (GRCm39)	T293S	probably damaging	Het

Other mutations in Cep57l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cep57l1	APN	10	41,597,547 (GRCm39)	intron	probably benign
IGL00679:Cep57l1	APN	10	41,595,796 (GRCm39)	nonsense	probably null
IGL00839:Cep57l1	APN	10	41,607,089 (GRCm39)	missense	probably damaging	1.00
IGL01013:Cep57l1	APN	10	41,616,865 (GRCm39)	nonsense	probably null
IGL01479:Cep57l1	APN	10	41,604,635 (GRCm39)	missense	possibly damaging	0.95
IGL01830:Cep57l1	APN	10	41,604,649 (GRCm39)	missense	probably benign	0.03
IGL02005:Cep57l1	APN	10	41,616,957 (GRCm39)	missense	probably benign	0.39
IGL02679:Cep57l1	APN	10	41,605,382 (GRCm39)	missense	probably damaging	1.00
IGL02697:Cep57l1	APN	10	41,598,950 (GRCm39)	missense	possibly damaging	0.83
R2147:Cep57l1	UTSW	10	41,616,895 (GRCm39)	missense	probably damaging	0.97
R3712:Cep57l1	UTSW	10	41,619,110 (GRCm39)	missense	probably damaging	1.00
R4049:Cep57l1	UTSW	10	41,605,356 (GRCm39)	missense	probably damaging	1.00
R4050:Cep57l1	UTSW	10	41,605,356 (GRCm39)	missense	probably damaging	1.00
R4661:Cep57l1	UTSW	10	41,595,767 (GRCm39)	missense	possibly damaging	0.91
R4764:Cep57l1	UTSW	10	41,597,678 (GRCm39)	missense	possibly damaging	0.81
R4929:Cep57l1	UTSW	10	41,621,910 (GRCm39)	missense	possibly damaging	0.93
R6058:Cep57l1	UTSW	10	41,616,918 (GRCm39)	missense	possibly damaging	0.87
R6386:Cep57l1	UTSW	10	41,619,128 (GRCm39)	missense	probably damaging	1.00
R6788:Cep57l1	UTSW	10	41,619,145 (GRCm39)	missense	probably damaging	1.00
R7334:Cep57l1	UTSW	10	41,597,596 (GRCm39)	missense	probably benign	0.00
R7724:Cep57l1	UTSW	10	41,621,838 (GRCm39)	missense	possibly damaging	0.65
R7738:Cep57l1	UTSW	10	41,616,842 (GRCm39)	missense	probably damaging	1.00
R7792:Cep57l1	UTSW	10	41,598,936 (GRCm39)	nonsense	probably null
R8191:Cep57l1	UTSW	10	41,616,955 (GRCm39)	missense	probably damaging	1.00
R9026:Cep57l1	UTSW	10	41,607,086 (GRCm39)	missense	probably damaging	1.00
R9289:Cep57l1	UTSW	10	41,607,082 (GRCm39)	missense	probably damaging	0.98
R9614:Cep57l1	UTSW	10	41,597,563 (GRCm39)	missense	probably damaging	0.99
R9643:Cep57l1	UTSW	10	41,597,626 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02