Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Espl1'

721280

Institutional Source

Beutler Lab

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

SSE, ESP1, PRCE, Cerp, PRCE, separase

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102296266-102324357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102319798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1669 (I1669N)

Ref Sequence

ENSEMBL: ENSMUSP00000064465 (fasta)

Gene Model

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

AlphaFold

P60330

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064924
AA Change: I1669N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: I1669N

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

possibly damaging
Transcript: ENSMUST00000229050
AA Change: I1669N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000229942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,187,079	L594V	probably benign	Het
9130409I23Rik	G	T	1: 181,055,245	V191F	possibly damaging	Het
A2m	T	A	6: 121,668,050	D953E	probably damaging	Het
Acod1	A	C	14: 103,049,673	Y80S	probably damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Akna	A	G	4: 63,394,707	V393A	probably damaging	Het
Amotl1	T	C	9: 14,562,217	K562R	possibly damaging	Het
Amz1	T	A	5: 140,752,378	D464E	probably damaging	Het
Anapc1	G	A	2: 128,664,060	Q619*	probably null	Het
Arfgef3	C	T	10: 18,646,527	G584R	probably damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atr	G	C	9: 95,920,780	V1832L	probably damaging	Het
Bsn	T	C	9: 108,107,417	D374G		Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,137,129	S562P	probably benign	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,299,328	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Col6a6	C	A	9: 105,695,753	G2185C	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Copb1	A	G	7: 114,236,799	I449T	possibly damaging	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,383	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,468	L738*	probably null	Het
Cul9	T	A	17: 46,509,971	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,260,880	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Daam1	A	G	12: 71,945,477	E322G	unknown	Het
Dab2ip	T	A	2: 35,719,903	L710*	probably null	Het
Dph1	T	C	11: 75,185,999	T60A	possibly damaging	Het
Eme1	T	C	11: 94,650,513	D161G	probably benign	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Exoc6	T	C	19: 37,599,623	I568T	probably damaging	Het
F3	T	A	3: 121,734,173	L85H		Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fbxw14	T	C	9: 109,277,267	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Foxr1	T	A	9: 44,440,902		probably benign	Het
Gas8	T	A	8: 123,536,440	V452E	possibly damaging	Het
Gdpd4	T	C	7: 98,000,162	V450A	probably damaging	Het
Gm17359	A	T	3: 79,449,309	M140L	probably benign	Het
Greb1	T	C	12: 16,724,823	Y191C	probably benign	Het
Haus3	G	A	5: 34,167,956	R120W	probably benign	Het
Herc1	G	T	9: 66,386,911		probably null	Het
Hist1h3i	T	C	13: 21,783,051	D107G	probably damaging	Het
Hyal2	T	C	9: 107,570,645	W166R	probably damaging	Het
Itga7	C	T	10: 128,953,800	A1003V	probably damaging	Het
Itga8	T	A	2: 12,160,408	I797F	possibly damaging	Het
Kank2	T	C	9: 21,794,556	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,709,513	I203N	probably damaging	Het
Kif21b	T	A	1: 136,149,428	L396Q	probably damaging	Het
Kng1	T	G	16: 23,060,420	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,254,480	S288P	probably benign	Het
Lmntd2	A	G	7: 141,210,788	S516P		Het
Lrp1b	T	A	2: 41,295,699	I1449F		Het
Lrrk2	T	A	15: 91,749,840	I1380K	possibly damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Lyst	T	C	13: 13,637,823	L940P	probably benign	Het
Man2a2	T	A	7: 80,356,353	M996L	probably benign	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Map4k5	A	G	12: 69,816,393	V629A	probably benign	Het
Mapre2	A	G	18: 23,890,924	E325G	unknown	Het
Mbnl1	A	G	3: 60,613,294	N101S	probably benign	Het
Meltf	T	A	16: 31,885,051	C199S	probably damaging	Het
Mmab	T	C	5: 114,436,789	E141G	probably benign	Het
Mtus2	T	C	5: 148,313,407	L1317P		Het
Muc6	T	A	7: 141,637,870	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Nek1	A	G	8: 61,124,123	E1118G	probably benign	Het
Nrtn	A	G	17: 56,751,416	V195A	probably damaging	Het
Nsd3	G	A	8: 25,714,203	V420I		Het
Olfr1094	A	G	2: 86,828,754	M1V	probably null	Het
Olfr1451	T	A	19: 12,999,619	I211N	probably damaging	Het
Olfr205	T	C	16: 59,329,402	I36V	probably benign	Het
Olfr522	G	A	7: 140,162,320	T210I	probably damaging	Het
Olfr618	A	T	7: 103,598,018	Q234L	probably benign	Het
Olfr677	T	C	7: 105,057,074	L276P	possibly damaging	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Olfr923	A	T	9: 38,827,718	H3L	probably benign	Het
Pde10a	G	T	17: 8,801,878	A216S	unknown	Het
Phldb2	T	C	16: 45,824,884	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,865,502	T1920S		Het
Ptgs2	T	A	1: 150,105,668	N567K	probably benign	Het
Pwp1	T	A	10: 85,876,506	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,918,763	E296G	probably null	Het
Rb1cc1	A	G	1: 6,244,115	K337R	probably benign	Het
Rbp3	A	G	14: 33,955,520	D475G	probably damaging	Het
Ric3	T	C	7: 109,038,790	E253G	possibly damaging	Het
Rictor	A	T	15: 6,768,081	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,899,843	V174E	possibly damaging	Het
Robo3	A	G	9: 37,429,604	F124S	probably damaging	Het
Rrad	A	G	8: 104,628,692	F228S	probably damaging	Het
Scn3a	A	T	2: 65,461,251	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,282,433	D152G	probably benign	Het
Scn5a	C	A	9: 119,486,737	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Shprh	T	A	10: 11,166,491	Y739*	probably null	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc7a12	A	G	3: 14,499,300	I349V	possibly damaging	Het
Slit1	T	C	19: 41,608,435	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,573,559	A231V	unknown	Het
Smg1	A	G	7: 118,212,985	S52P	unknown	Het
Soga1	G	A	2: 157,060,262	R278C	probably damaging	Het
Sorl1	A	G	9: 42,046,597	Y584H	probably damaging	Het
Ssbp1	T	A	6: 40,478,034	S142R	probably benign	Het
Stard3	A	G	11: 98,379,971		probably null	Het
Strn3	G	T	12: 51,627,517	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739	T195A	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tmed5	A	C	5: 108,132,234		probably null	Het
Tmem132a	C	T	19: 10,861,596	R494H	probably benign	Het
Tom1	A	G	8: 75,060,549	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,002,016	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,179,011	K105N	possibly damaging	Het
Trim34a	C	T	7: 104,261,121	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,448,813	N786K	probably benign	Het
Trpc3	A	G	3: 36,651,534	M504T	probably benign	Het
Ttc28	A	T	5: 111,223,226	M545L	probably benign	Het
Uggt1	A	C	1: 36,165,546	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,672	Q679*	probably null	Het
Wdfy4	T	C	14: 32,970,876	I2958V		Het
Zbtb37	C	T	1: 161,020,270	S389N	possibly damaging	Het
Zfp235	T	C	7: 24,142,244	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,874,906	C1420S	probably damaging	Het

Other mutations in Espl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Espl1	APN	15	102299813	missense	probably damaging	1.00
IGL00839:Espl1	APN	15	102320547	unclassified	probably benign
IGL00919:Espl1	APN	15	102298629	missense	probably benign	0.03
IGL01125:Espl1	APN	15	102322938	missense	probably damaging	1.00
IGL01366:Espl1	APN	15	102319836	missense	probably benign	0.00
IGL01488:Espl1	APN	15	102298739	missense	probably benign
IGL01554:Espl1	APN	15	102313225	missense	probably damaging	1.00
IGL01810:Espl1	APN	15	102298205	missense	probably benign
IGL01959:Espl1	APN	15	102305662	splice site	probably benign
IGL02267:Espl1	APN	15	102315664	missense	probably benign	0.01
IGL02452:Espl1	APN	15	102299839	missense	probably damaging	1.00
IGL02469:Espl1	APN	15	102314025	missense	probably damaging	1.00
IGL02500:Espl1	APN	15	102315800	missense	probably benign
IGL02630:Espl1	APN	15	102296818	missense	probably benign	0.11
IGL02687:Espl1	APN	15	102313178	splice site	probably benign
IGL02868:Espl1	APN	15	102313990	nonsense	probably null
IGL02926:Espl1	APN	15	102299855	missense	probably damaging	0.99
R0019:Espl1	UTSW	15	102306319	missense	probably null	0.01
R0129:Espl1	UTSW	15	102316648	missense	probably benign	0.00
R0184:Espl1	UTSW	15	102299216	missense	probably benign	0.01
R0240:Espl1	UTSW	15	102312541	missense	probably benign	0.00
R0240:Espl1	UTSW	15	102312541	missense	probably benign	0.00
R0267:Espl1	UTSW	15	102313017	missense	possibly damaging	0.89
R0423:Espl1	UTSW	15	102303986	nonsense	probably null
R0587:Espl1	UTSW	15	102303947	splice site	probably benign
R0726:Espl1	UTSW	15	102322598	missense	probably benign
R1186:Espl1	UTSW	15	102304039	missense	probably benign	0.05
R1282:Espl1	UTSW	15	102315391	missense	probably benign	0.00
R1428:Espl1	UTSW	15	102305685	missense	probably benign	0.06
R1467:Espl1	UTSW	15	102319858	missense	probably benign	0.09
R1467:Espl1	UTSW	15	102319858	missense	probably benign	0.09
R1473:Espl1	UTSW	15	102320443	missense	possibly damaging	0.63
R1570:Espl1	UTSW	15	102298367	missense	probably damaging	0.98
R1639:Espl1	UTSW	15	102320714	missense	probably damaging	1.00
R1725:Espl1	UTSW	15	102313221	missense	probably benign	0.08
R1748:Espl1	UTSW	15	102298529	missense	possibly damaging	0.92
R1845:Espl1	UTSW	15	102299013	missense	probably benign
R1938:Espl1	UTSW	15	102305042	missense	probably benign	0.00
R1954:Espl1	UTSW	15	102298388	missense	probably damaging	1.00
R2009:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R2014:Espl1	UTSW	15	102322714	nonsense	probably null
R2067:Espl1	UTSW	15	102299090	missense	probably damaging	0.96
R2084:Espl1	UTSW	15	102296851	critical splice donor site	probably null
R2164:Espl1	UTSW	15	102319588	missense	probably damaging	1.00
R2204:Espl1	UTSW	15	102305905	missense	probably damaging	1.00
R2220:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R2237:Espl1	UTSW	15	102315569	missense	probably damaging	0.98
R2314:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3107:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3108:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3114:Espl1	UTSW	15	102323204	missense	possibly damaging	0.89
R3115:Espl1	UTSW	15	102323204	missense	possibly damaging	0.89
R3615:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3616:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3733:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3958:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3959:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R3960:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4062:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4063:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4064:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4165:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4166:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4349:Espl1	UTSW	15	102319604	missense	probably benign	0.26
R4373:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4376:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4377:Espl1	UTSW	15	102312989	missense	probably damaging	0.99
R4516:Espl1	UTSW	15	102323236	missense	probably benign	0.00
R4595:Espl1	UTSW	15	102298724	missense	probably benign	0.01
R4884:Espl1	UTSW	15	102324070	missense	possibly damaging	0.84
R4894:Espl1	UTSW	15	102322323	critical splice acceptor site	probably null
R4921:Espl1	UTSW	15	102315241	missense	probably damaging	0.98
R4931:Espl1	UTSW	15	102305730	missense	probably benign	0.02
R4936:Espl1	UTSW	15	102304937	missense	probably damaging	1.00
R5000:Espl1	UTSW	15	102298551	missense	probably damaging	1.00
R5220:Espl1	UTSW	15	102298577	missense	probably benign	0.03
R5329:Espl1	UTSW	15	102312518	missense	probably damaging	0.97
R5501:Espl1	UTSW	15	102317130	missense	possibly damaging	0.51
R5788:Espl1	UTSW	15	102324030	missense	probably damaging	1.00
R5848:Espl1	UTSW	15	102322576	missense	probably benign	0.03
R5906:Espl1	UTSW	15	102296851	critical splice donor site	probably null
R5978:Espl1	UTSW	15	102315774	missense	possibly damaging	0.66
R6111:Espl1	UTSW	15	102299888	missense	probably damaging	0.99
R6313:Espl1	UTSW	15	102315812	missense	probably benign	0.00
R6414:Espl1	UTSW	15	102315560	missense	probably damaging	0.96
R6484:Espl1	UTSW	15	102323500	missense	possibly damaging	0.65
R6784:Espl1	UTSW	15	102299225	missense	probably benign
R6928:Espl1	UTSW	15	102298907	missense	probably benign	0.28
R6995:Espl1	UTSW	15	102304100	missense	possibly damaging	0.94
R7053:Espl1	UTSW	15	102316893	critical splice donor site	probably null
R7062:Espl1	UTSW	15	102298896	missense	probably benign	0.00
R7135:Espl1	UTSW	15	102319524	nonsense	probably null
R7154:Espl1	UTSW	15	102324049	missense	probably damaging	1.00
R7164:Espl1	UTSW	15	102313203	missense	probably damaging	1.00
R7522:Espl1	UTSW	15	102305051	missense	probably damaging	1.00
R7848:Espl1	UTSW	15	102316526	missense	probably damaging	1.00
R7894:Espl1	UTSW	15	102304025	missense	probably damaging	1.00
R8275:Espl1	UTSW	15	102302753	splice site	probably benign
R8752:Espl1	UTSW	15	102306324	missense	probably damaging	1.00
R9160:Espl1	UTSW	15	102298518	missense	probably damaging	1.00
R9310:Espl1	UTSW	15	102296850	critical splice donor site	probably null
R9385:Espl1	UTSW	15	102298750	missense	probably damaging	0.99
R9532:Espl1	UTSW	15	102319825	nonsense	probably null
R9565:Espl1	UTSW	15	102319798	missense	possibly damaging	0.82
R9723:Espl1	UTSW	15	102320735	missense	probably benign	0.43
X0062:Espl1	UTSW	15	102298397	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGATCCTTATGCCACTGCG -3'
(R):5'- GGCCAGGTAAACTAAGCAATATC -3'

Sequencing Primer
(F):5'- TTGCACCGACAGCTCAG -3'
(R):5'- AATATCTTAAGCTCATCTACTCAGCC -3'

Posted On

2022-08-09