Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Espl1'

557822

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

045331-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102204701-102232792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102221638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 976 (W976R)

Ref Sequence

ENSEMBL: ENSMUSP00000064465 (fasta)

Gene Model

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

AlphaFold

P60330

Predicted Effect

probably damaging
Transcript: ENSMUST00000064924
AA Change: W976R

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

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: W976R

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 damaging
Transcript: ENSMUST00000229050
AA Change: W976R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Ajm1	T	A	2: 25,468,579 (GRCm39)	H444L	possibly damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm39)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,297,995 (GRCm39)	D202V	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or1j21	T	C	2: 36,683,709 (GRCm39)	S154P	probably benign	Het
Or5ae2	A	G	7: 84,506,251 (GRCm39)	I227V	possibly damaging	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly 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
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
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
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'- TGGGAAGTGATGTGCTCTCC -3'
(R):5'- ATAATCACTGGGGAATCCACACTC -3'

Sequencing Primer
(F):5'- GATGTGCTCTCCATTCAGAAAGCAG -3'
(R):5'- TGGGGAATCCACACTCAAAAG -3'

Posted On

2019-06-26