Mutagenetix > Incidental Mutation

Incidental Mutation 'R6788:Cep57l1'

532507

Institutional Source

Beutler Lab

Gene Symbol

Cep57l1

Ensembl Gene

ENSMUSG00000019813

Gene Name

centrosomal protein 57-like 1

Synonyms

2410017P07Rik, 4930484D11Rik

MMRRC Submission

044902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41594836-41685867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41619145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Ref Sequence

ENSEMBL: ENSMUSP00000141089 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019951
AA Change: D74G

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

SMART Domains

Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: D74G

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: D74G

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

SMART Domains

Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: D74G

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: D74G

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

SMART Domains

Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: D74G

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: D74G

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

SMART Domains

Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: D74G

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: ENSMUST00000189770
AA Change: D74G

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

SMART Domains

Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: D74G

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: 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

probably damaging
Transcript: ENSMUST00000191498
AA Change: D74G

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

SMART Domains

Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: D74G

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

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.4%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,580,199 (GRCm39)	V2001E	probably benign	Het
Ahsg	A	G	16: 22,713,585 (GRCm39)	D122G	probably benign	Het
Ank3	A	G	10: 69,840,553 (GRCm39)	Y1616C	probably damaging	Het
Arhgef1	A	G	7: 24,619,205 (GRCm39)		probably null	Het
Atp7b	T	C	8: 22,494,391 (GRCm39)	I1023V	probably benign	Het
Bod1l	A	T	5: 41,979,216 (GRCm39)	Y699*	probably null	Het
Car12	C	T	9: 66,659,244 (GRCm39)	S183L	probably damaging	Het
Cep290	T	C	10: 100,324,490 (GRCm39)	S57P	probably damaging	Het
Cers6	T	C	2: 68,938,903 (GRCm39)	Y374H	possibly damaging	Het
Chmp4c	T	A	3: 10,432,195 (GRCm39)	M35K	possibly damaging	Het
Crkl	G	A	16: 17,301,645 (GRCm39)	D300N	probably damaging	Het
Cyp3a41a	A	G	5: 145,642,639 (GRCm39)	M240T	probably benign	Het
Dipk2a	C	T	9: 94,406,502 (GRCm39)	V302I	probably benign	Het
Dnah12	G	T	14: 26,523,470 (GRCm39)	L1986F	probably damaging	Het
Dnah8	T	C	17: 30,867,439 (GRCm39)	I297T	probably benign	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Dpys	T	A	15: 39,720,559 (GRCm39)	H67L	probably damaging	Het
Epc2	T	G	2: 49,422,099 (GRCm39)	V331G	probably benign	Het
Fnbp1l	G	A	3: 122,339,956 (GRCm39)	R344*	probably null	Het
Gmip	G	T	8: 70,263,824 (GRCm39)	L89F	possibly damaging	Het
Gmip	G	C	8: 70,263,826 (GRCm39)	R90P	probably damaging	Het
Gpi1	A	G	7: 33,928,415 (GRCm39)	S74P	probably damaging	Het
Gys1	G	A	7: 45,094,102 (GRCm39)	E406K	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Klhl29	C	T	12: 5,134,393 (GRCm39)	V673M	probably damaging	Het
Lnpk	T	C	2: 74,360,020 (GRCm39)	T332A	probably benign	Het
Loxl4	T	C	19: 42,596,792 (GRCm39)	D60G	probably damaging	Het
Lrr1	T	C	12: 69,221,449 (GRCm39)	I197T	probably damaging	Het
Map1lc3b	A	G	8: 122,320,316 (GRCm39)	N43S	probably benign	Het
Map3k21	A	T	8: 126,666,605 (GRCm39)	D599V	probably benign	Het
Mastl	T	C	2: 23,023,710 (GRCm39)	N338D	probably benign	Het
Mepe	A	T	5: 104,486,074 (GRCm39)	R405*	probably null	Het
Mrps30	T	C	13: 118,516,908 (GRCm39)	E437G	probably benign	Het
Mup15	A	G	4: 61,356,465 (GRCm39)	V100A	possibly damaging	Het
Olfml1	A	T	7: 107,167,075 (GRCm39)	I35F	probably damaging	Het
Olfml2a	T	A	2: 38,850,238 (GRCm39)	Y651*	probably null	Het
Or2h1b	T	A	17: 37,462,713 (GRCm39)	D50V	probably damaging	Het
Otog	T	C	7: 45,947,741 (GRCm39)	V113A	probably damaging	Het
Parvg	C	T	15: 84,210,464 (GRCm39)	L44F	possibly damaging	Het
Pcnx2	G	T	8: 126,498,839 (GRCm39)	D1553E	probably damaging	Het
Pcyt2	C	T	11: 120,505,200 (GRCm39)	G122S	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Polq	C	T	16: 36,897,510 (GRCm39)	T2134I	probably damaging	Het
Prkce	T	G	17: 86,937,489 (GRCm39)	F641V	probably damaging	Het
Prss1	T	C	6: 41,440,654 (GRCm39)	I243T	possibly damaging	Het
Pxmp2	A	G	5: 110,429,185 (GRCm39)	F91L	probably benign	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Rasgef1a	T	G	6: 118,064,174 (GRCm39)	M337R	possibly damaging	Het
Rassf2	A	G	2: 131,844,845 (GRCm39)	M199T	probably damaging	Het
Rtbdn	A	T	8: 85,679,303 (GRCm39)	Y67F	probably null	Het
Scamp3	T	C	3: 89,089,256 (GRCm39)	V271A	probably benign	Het
Sema3a	A	T	5: 13,647,584 (GRCm39)	R613W	possibly damaging	Het
Slc4a3	A	T	1: 75,527,959 (GRCm39)	I206F	probably damaging	Het
Slc9b1	A	G	3: 135,063,518 (GRCm39)		probably null	Het
Smchd1	C	A	17: 71,782,096 (GRCm39)	V22F	probably benign	Het
Smg1	A	G	7: 117,783,794 (GRCm39)		probably benign	Het
Spaca7b	T	C	8: 11,728,584 (GRCm39)	E29G	possibly damaging	Het
Spata31e4	A	C	13: 50,857,131 (GRCm39)	H923P	probably damaging	Het
Stab1	A	G	14: 30,861,117 (GRCm39)	L89P	probably damaging	Het
Stim1	A	G	7: 102,076,498 (GRCm39)	E152G	probably damaging	Het
Tenm3	A	G	8: 49,127,528 (GRCm39)	F50S	probably damaging	Het
Tpgs2	T	G	18: 25,262,927 (GRCm39)	N231H	probably benign	Het
Trank1	T	A	9: 111,219,747 (GRCm39)	N2161K	probably damaging	Het
Trim28	A	G	7: 12,759,273 (GRCm39)	D129G	probably benign	Het
Trim66	A	T	7: 109,076,961 (GRCm39)	I326N	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Uggt1	T	A	1: 36,269,769 (GRCm39)	T83S	probably benign	Het
Wdr91	A	G	6: 34,863,754 (GRCm39)	I587T	probably damaging	Het
Zpld1	A	T	16: 55,052,603 (GRCm39)	V337D	possibly 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
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
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'- ACAGTTTCTATGACAGAAGAGCAG -3'
(R):5'- GGTTACTGGTAAGCAAACGTG -3'

Sequencing Primer
(F):5'- TTTCTATGACAGAAGAGCAGAGGCAG -3'
(R):5'- AAACGTGCCCTGCTCCTG -3'

Posted On

2018-08-29