Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Cep57l1'

483060

Institutional Source

Beutler Lab

Gene Symbol

Cep57l1

Ensembl Gene

ENSMUSG00000019813

Gene Name

centrosomal protein 57-like 1

Synonyms

2410017P07Rik, 4930484D11Rik

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41594836-41685867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41616918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 123 (I123N)

Ref Sequence

ENSEMBL: ENSMUSP00000140147 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019951
AA Change: I123N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: I123N

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

possibly damaging
Transcript: ENSMUST00000105505
AA Change: I123N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: I123N

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 benign
Transcript: ENSMUST00000186239
AA Change: I123N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: I123N

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

possibly damaging
Transcript: ENSMUST00000187143
AA Change: I123N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: I123N

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

possibly damaging
Transcript: ENSMUST00000189770
AA Change: I123N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: I123N

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 benign
Transcript: ENSMUST00000191498
AA Change: I123N

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: I123N

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	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
IGL03328:Cep57l1	APN	10	41,619,148 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGAGTCTACCATTGCTGTAGG -3'
(R):5'- TTTGCACCACGTGTATAACAACAC -3'

Sequencing Primer
(F):5'- GCTGTAGGTGACAATCTCCTAGAC -3'
(R):5'- TGTATAACAACACATACCATGCAC -3'

Posted On

2017-07-14