Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00919:Espl1'

29053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

ESP1, SSE, separase, PRCE, Cerp, PRCE

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00919

Quality Score

Status

Chromosome

Chromosomal Location

102204701-102232792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102207064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 176 (V176A)

Ref Sequence

ENSEMBL: ENSMUSP00000155304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064924] [ENSMUST00000229050] [ENSMUST00000230212] [ENSMUST00000231104]

AlphaFold

P60330

Predicted Effect

probably benign
Transcript: ENSMUST00000064924
AA Change: V176A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: V176A

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: ENSMUST00000229050
AA Change: V176A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229580

Predicted Effect

probably benign
Transcript: ENSMUST00000230212

Predicted Effect

probably benign
Transcript: ENSMUST00000231104

Coding Region Coverage

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef1	A	G	1: 10,243,462 (GRCm39)	V1029A	probably damaging	Het
Arhgap9	T	C	10: 127,163,762 (GRCm39)		probably benign	Het
Ccdc63	T	C	5: 122,262,982 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Ctps1	A	G	4: 120,424,545 (GRCm39)	V23A	probably benign	Het
Ehd4	T	C	2: 119,927,535 (GRCm39)	E333G	possibly damaging	Het
Fbxo41	A	G	6: 85,455,552 (GRCm39)	I544T	probably damaging	Het
Fut9	A	G	4: 25,620,316 (GRCm39)	V166A	possibly damaging	Het
Kirrel3	A	G	9: 34,926,549 (GRCm39)		probably null	Het
Nell2	T	A	15: 95,281,608 (GRCm39)	D366V	possibly damaging	Het
Neurod4	A	T	10: 130,106,683 (GRCm39)	I197N	probably damaging	Het
Nlrp9c	A	T	7: 26,093,481 (GRCm39)	Y61*	probably null	Het
Or4c121	T	G	2: 89,023,848 (GRCm39)	M177L	probably benign	Het
Pcdh1	T	A	18: 38,335,865 (GRCm39)	K118*	probably null	Het
Phf12	T	A	11: 77,874,166 (GRCm39)	I10N	probably damaging	Het
Ptprc	A	T	1: 138,041,380 (GRCm39)	C250S	probably damaging	Het
Rtl8c	A	G	X: 52,610,187 (GRCm39)	T59A	possibly damaging	Het
Serpine1	A	G	5: 137,092,376 (GRCm39)	I377T	probably benign	Het
Shank2	A	T	7: 143,965,008 (GRCm39)	D865V	probably damaging	Het
Ski	A	T	4: 155,306,799 (GRCm39)	V60E	possibly damaging	Het
St7l	T	A	3: 104,833,782 (GRCm39)	L481H	probably damaging	Het
Tmpo	A	G	10: 90,998,662 (GRCm39)	I375T	probably damaging	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	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
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
R3115: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

Posted On

2013-04-17