Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Cep57l1'

314113

Institutional Source

Beutler Lab

Gene Symbol

Cep57l1

Ensembl Gene

ENSMUSG00000019813

Gene Name

centrosomal protein 57-like 1

Synonyms

2410017P07Rik, 4930484D11Rik

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41594836-41685867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41605356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 130 (R130S)

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

probably damaging
Transcript: ENSMUST00000019951
AA Change: R206S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: R206S

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: R206S

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

SMART Domains

Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: R206S

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: R206S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: R206S

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: R206S

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

SMART Domains

Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: R206S

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 damaging
Transcript: ENSMUST00000189770
AA Change: R206S

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

SMART Domains

Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: R206S

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: ENSMUST00000190022
AA Change: R130S

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

SMART Domains

Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: R130S

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: R206S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: R206S

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

Meta Mutation Damage Score

0.6311

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,646,599 (GRCm39)	S95G	probably damaging	Het
Hnf1a	T	A	5: 115,108,633 (GRCm39)	N91Y	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or2y8	T	G	11: 52,035,961 (GRCm39)	Y132S	probably damaging	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,573,805 (GRCm39)	G688C	probably damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Tpte	T	A	8: 22,856,000 (GRCm39)	V600E	probably damaging	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	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
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

Predicted Primers

PCR Primer
(F):5'- GTGCAAGGTCCTTTGGCAAG -3'
(R):5'- GTTAGAAAGCCGAGAGATGTCTTG -3'

Sequencing Primer
(F):5'- CCTTTGGCAAGGTAGTCAAGTC -3'
(R):5'- AGATGTCTTGGAGTCTTTTGCCATTC -3'

Posted On

2015-04-30