Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Espl1'

263998

Institutional Source

Beutler Lab

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

ESP1, SSE, separase, PRCE, Cerp, PRCE

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102204701-102232792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102231639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1945 (F1945Y)

Ref Sequence

ENSEMBL: ENSMUSP00000155304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001335] [ENSMUST00000062492] [ENSMUST00000064924] [ENSMUST00000165671] [ENSMUST00000165717] [ENSMUST00000166658] [ENSMUST00000229050] [ENSMUST00000169637] [ENSMUST00000170627]

AlphaFold

P60330

Predicted Effect

probably benign
Transcript: ENSMUST00000001335

SMART Domains

Protein: ENSMUSP00000001335
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	12	58	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062492

SMART Domains

Protein: ENSMUSP00000126970
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064924
AA Change: F1945Y

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: F1945Y

Domain	Start	End	E-Value	Type
low complexity region	236	245	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
low complexity region	785	794	N/A	INTRINSIC
low complexity region	907	918	N/A	INTRINSIC
low complexity region	1312	1317	N/A	INTRINSIC
low complexity region	1565	1579	N/A	INTRINSIC
low complexity region	1625	1636	N/A	INTRINSIC
Pfam:Peptidase_C50	1716	2065	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165671

SMART Domains

Protein: ENSMUSP00000128526
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165717

SMART Domains

Protein: ENSMUSP00000132441
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	72	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166658

SMART Domains

Protein: ENSMUSP00000129178
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	22	143	8.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168805

Predicted Effect

unknown
Transcript: ENSMUST00000229942
AA Change: F79Y

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229050
AA Change: F1945Y

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230222

Predicted Effect

probably benign
Transcript: ENSMUST00000169637

SMART Domains

Protein: ENSMUSP00000128263
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	58	3.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170627

SMART Domains

Protein: ENSMUSP00000131245
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	7	99	4.6e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231207

Meta Mutation Damage Score

0.4196

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation. Conditional null mice display abnormal mitosis during liver regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	probably benign	Het

Other mutations in Espl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Espl1	APN	15	102,208,248 (GRCm39)	missense	probably damaging	1.00
IGL00839:Espl1	APN	15	102,228,982 (GRCm39)	unclassified	probably benign
IGL00919:Espl1	APN	15	102,207,064 (GRCm39)	missense	probably benign	0.03
IGL01125:Espl1	APN	15	102,231,373 (GRCm39)	missense	probably damaging	1.00
IGL01366:Espl1	APN	15	102,228,271 (GRCm39)	missense	probably benign	0.00
IGL01488:Espl1	APN	15	102,207,174 (GRCm39)	missense	probably benign
IGL01554:Espl1	APN	15	102,221,660 (GRCm39)	missense	probably damaging	1.00
IGL01810:Espl1	APN	15	102,206,640 (GRCm39)	missense	probably benign
IGL01959:Espl1	APN	15	102,214,097 (GRCm39)	splice site	probably benign
IGL02267:Espl1	APN	15	102,224,099 (GRCm39)	missense	probably benign	0.01
IGL02452:Espl1	APN	15	102,208,274 (GRCm39)	missense	probably damaging	1.00
IGL02469:Espl1	APN	15	102,222,460 (GRCm39)	missense	probably damaging	1.00
IGL02500:Espl1	APN	15	102,224,235 (GRCm39)	missense	probably benign
IGL02630:Espl1	APN	15	102,205,253 (GRCm39)	missense	probably benign	0.11
IGL02687:Espl1	APN	15	102,221,613 (GRCm39)	splice site	probably benign
IGL02868:Espl1	APN	15	102,222,425 (GRCm39)	nonsense	probably null
IGL02926:Espl1	APN	15	102,208,290 (GRCm39)	missense	probably damaging	0.99
R0019:Espl1	UTSW	15	102,214,754 (GRCm39)	missense	probably null	0.01
R0129:Espl1	UTSW	15	102,225,083 (GRCm39)	missense	probably benign	0.00
R0184:Espl1	UTSW	15	102,207,651 (GRCm39)	missense	probably benign	0.01
R0240:Espl1	UTSW	15	102,220,976 (GRCm39)	missense	probably benign	0.00
R0240:Espl1	UTSW	15	102,220,976 (GRCm39)	missense	probably benign	0.00
R0267:Espl1	UTSW	15	102,221,452 (GRCm39)	missense	possibly damaging	0.89
R0423:Espl1	UTSW	15	102,212,421 (GRCm39)	nonsense	probably null
R0587:Espl1	UTSW	15	102,212,382 (GRCm39)	splice site	probably benign
R0726:Espl1	UTSW	15	102,231,033 (GRCm39)	missense	probably benign
R1186:Espl1	UTSW	15	102,212,474 (GRCm39)	missense	probably benign	0.05
R1282:Espl1	UTSW	15	102,223,826 (GRCm39)	missense	probably benign	0.00
R1428:Espl1	UTSW	15	102,214,120 (GRCm39)	missense	probably benign	0.06
R1467:Espl1	UTSW	15	102,228,293 (GRCm39)	missense	probably benign	0.09
R1467:Espl1	UTSW	15	102,228,293 (GRCm39)	missense	probably benign	0.09
R1473:Espl1	UTSW	15	102,228,878 (GRCm39)	missense	possibly damaging	0.63
R1570:Espl1	UTSW	15	102,206,802 (GRCm39)	missense	probably damaging	0.98
R1639:Espl1	UTSW	15	102,229,149 (GRCm39)	missense	probably damaging	1.00
R1725:Espl1	UTSW	15	102,221,656 (GRCm39)	missense	probably benign	0.08
R1748:Espl1	UTSW	15	102,206,964 (GRCm39)	missense	possibly damaging	0.92
R1845:Espl1	UTSW	15	102,207,448 (GRCm39)	missense	probably benign
R1938:Espl1	UTSW	15	102,213,477 (GRCm39)	missense	probably benign	0.00
R1954:Espl1	UTSW	15	102,206,823 (GRCm39)	missense	probably damaging	1.00
R2009:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R2014:Espl1	UTSW	15	102,231,149 (GRCm39)	nonsense	probably null
R2067:Espl1	UTSW	15	102,207,525 (GRCm39)	missense	probably damaging	0.96
R2084:Espl1	UTSW	15	102,205,286 (GRCm39)	critical splice donor site	probably null
R2164:Espl1	UTSW	15	102,228,023 (GRCm39)	missense	probably damaging	1.00
R2204:Espl1	UTSW	15	102,214,340 (GRCm39)	missense	probably damaging	1.00
R2220:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R2237:Espl1	UTSW	15	102,224,004 (GRCm39)	missense	probably damaging	0.98
R2314:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3107:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3108:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3114:Espl1	UTSW	15	102,231,639 (GRCm39)	missense	possibly damaging	0.89
R3615:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3616:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3733:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3958:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3959:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3960:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4062:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4063:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4064:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4165:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4166:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4349:Espl1	UTSW	15	102,228,039 (GRCm39)	missense	probably benign	0.26
R4373:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4376:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4377:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4516:Espl1	UTSW	15	102,231,671 (GRCm39)	missense	probably benign	0.00
R4595:Espl1	UTSW	15	102,207,159 (GRCm39)	missense	probably benign	0.01
R4884:Espl1	UTSW	15	102,232,505 (GRCm39)	missense	possibly damaging	0.84
R4894:Espl1	UTSW	15	102,230,758 (GRCm39)	critical splice acceptor site	probably null
R4921:Espl1	UTSW	15	102,223,676 (GRCm39)	missense	probably damaging	0.98
R4931:Espl1	UTSW	15	102,214,165 (GRCm39)	missense	probably benign	0.02
R4936:Espl1	UTSW	15	102,213,372 (GRCm39)	missense	probably damaging	1.00
R5000:Espl1	UTSW	15	102,206,986 (GRCm39)	missense	probably damaging	1.00
R5220:Espl1	UTSW	15	102,207,012 (GRCm39)	missense	probably benign	0.03
R5329:Espl1	UTSW	15	102,220,953 (GRCm39)	missense	probably damaging	0.97
R5501:Espl1	UTSW	15	102,225,565 (GRCm39)	missense	possibly damaging	0.51
R5788:Espl1	UTSW	15	102,232,465 (GRCm39)	missense	probably damaging	1.00
R5848:Espl1	UTSW	15	102,231,011 (GRCm39)	missense	probably benign	0.03
R5906:Espl1	UTSW	15	102,205,286 (GRCm39)	critical splice donor site	probably null
R5978:Espl1	UTSW	15	102,224,209 (GRCm39)	missense	possibly damaging	0.66
R6111:Espl1	UTSW	15	102,208,323 (GRCm39)	missense	probably damaging	0.99
R6313:Espl1	UTSW	15	102,224,247 (GRCm39)	missense	probably benign	0.00
R6414:Espl1	UTSW	15	102,223,995 (GRCm39)	missense	probably damaging	0.96
R6484:Espl1	UTSW	15	102,231,935 (GRCm39)	missense	possibly damaging	0.65
R6784:Espl1	UTSW	15	102,207,660 (GRCm39)	missense	probably benign
R6928:Espl1	UTSW	15	102,207,342 (GRCm39)	missense	probably benign	0.28
R6995:Espl1	UTSW	15	102,212,535 (GRCm39)	missense	possibly damaging	0.94
R7053:Espl1	UTSW	15	102,225,328 (GRCm39)	critical splice donor site	probably null
R7062:Espl1	UTSW	15	102,207,331 (GRCm39)	missense	probably benign	0.00
R7135:Espl1	UTSW	15	102,227,959 (GRCm39)	nonsense	probably null
R7154:Espl1	UTSW	15	102,232,484 (GRCm39)	missense	probably damaging	1.00
R7164:Espl1	UTSW	15	102,221,638 (GRCm39)	missense	probably damaging	1.00
R7522:Espl1	UTSW	15	102,213,486 (GRCm39)	missense	probably damaging	1.00
R7848:Espl1	UTSW	15	102,224,961 (GRCm39)	missense	probably damaging	1.00
R7894:Espl1	UTSW	15	102,212,460 (GRCm39)	missense	probably damaging	1.00
R8275:Espl1	UTSW	15	102,211,188 (GRCm39)	splice site	probably benign
R8752:Espl1	UTSW	15	102,214,759 (GRCm39)	missense	probably damaging	1.00
R9160:Espl1	UTSW	15	102,206,953 (GRCm39)	missense	probably damaging	1.00
R9310:Espl1	UTSW	15	102,205,285 (GRCm39)	critical splice donor site	probably null
R9385:Espl1	UTSW	15	102,207,185 (GRCm39)	missense	probably damaging	0.99
R9532:Espl1	UTSW	15	102,228,260 (GRCm39)	nonsense	probably null
R9563:Espl1	UTSW	15	102,228,233 (GRCm39)	missense	possibly damaging	0.82
R9565:Espl1	UTSW	15	102,228,233 (GRCm39)	missense	possibly damaging	0.82
R9723:Espl1	UTSW	15	102,229,170 (GRCm39)	missense	probably benign	0.43
X0062:Espl1	UTSW	15	102,206,832 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCACTAAAGAGGTGGGC -3'
(R):5'- AAGCAGCCACTGATTCTGGAG -3'

Sequencing Primer
(F):5'- ACTGGCTGTTGGGTAAAGCCTAAG -3'
(R):5'- CTGATTCTGGAGCAAAAGCACTCATG -3'

Posted On

2015-02-05