Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Cse1l'

171526

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1-like (S. cerevisiae)

Synonyms

Capts, Xpo2, 2610100P18Rik, Cas

MMRRC Submission

039578-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166926372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 197 (T197A)

Ref Sequence

ENSEMBL: ENSMUSP00000128376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000169290]

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: T197A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: T197A

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	526	9.2e-169	PFAM
Pfam:CAS_CSE1	527	962	1.1e-181	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135139

Predicted Effect

probably benign
Transcript: ENSMUST00000163437

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
Pfam:Cse1	1	237	7.9e-105	PFAM
Pfam:CAS_CSE1	225	649	2.3e-195	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166871

Predicted Effect

probably benign
Transcript: ENSMUST00000168599
AA Change: T197A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: T197A

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	256	8.6e-40	PFAM
Pfam:Cse1	255	470	7.3e-99	PFAM
Pfam:CAS_CSE1	471	906	1.3e-201	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169290
AA Change: T197A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: T197A

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	389	5.2e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171410

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E5.5 of development and are morphologically disorganized and lack identifiable structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	T	A	17: 23,717,144		probably benign	Het
Adgrv1	T	A	13: 81,503,978		probably null	Het
Adh7	A	C	3: 138,223,955	T131P	possibly damaging	Het
Agxt	G	A	1: 93,137,979	G190D	probably damaging	Het
AI182371	A	G	2: 35,088,803	I193T	probably damaging	Het
Akna	T	A	4: 63,379,310	T836S	probably benign	Het
Alox12	T	C	11: 70,253,243		probably null	Het
Anapc2	C	A	2: 25,273,063	T104K	probably benign	Het
Ank1	T	C	8: 23,093,919	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,441,391	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,890,473	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,246,771		probably null	Het
Atp5s	G	A	12: 69,741,071	D94N	probably benign	Het
Bpifb5	T	A	2: 154,223,856	H24Q	probably benign	Het
Brd9	A	G	13: 73,944,743	E283G	probably damaging	Het
Cadm2	C	A	16: 66,784,840	V184F	probably damaging	Het
Casr	A	G	16: 36,495,137	V857A	probably benign	Het
Ccdc18	A	T	5: 108,191,977	Q796L	probably damaging	Het
Cep290	T	C	10: 100,496,828	V263A	probably benign	Het
Clec10a	A	T	11: 70,169,819	N167Y	probably damaging	Het
Cog1	A	G	11: 113,652,232	I189V	possibly damaging	Het
Commd2	A	G	3: 57,646,848	I144T	probably benign	Het
Csmd3	A	T	15: 47,820,398	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,219,207	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,486,920	I39V	probably benign	Het
Dgkz	G	A	2: 91,938,060	P734S	probably damaging	Het
Diaph3	T	C	14: 86,656,480	D31G	probably damaging	Het
Dlec1	T	C	9: 119,127,450	S731P	probably benign	Het
Dnah11	T	C	12: 117,931,256	R3619G	probably benign	Het
Doc2b	A	G	11: 75,771,957	L405P	probably damaging	Het
Dock3	A	T	9: 106,952,364	I1117N	probably damaging	Het
Dock3	G	A	9: 106,996,913	A453V	probably benign	Het
Ece2	T	A	16: 20,642,513	I474N	probably damaging	Het
Etv4	A	T	11: 101,771,687		probably null	Het
Fam171b	A	T	2: 83,880,098	M705L	probably benign	Het
Frem2	T	C	3: 53,654,210	K959E	probably benign	Het
Fyn	T	C	10: 39,532,070	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,857,857	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204		probably null	Het
Glcci1	A	G	6: 8,591,620	E222G	probably damaging	Het
Gm1968	G	A	16: 29,958,841		noncoding transcript	Het
Gm3604	T	A	13: 62,371,600	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,274,769	I466V	probably benign	Het
Gm9789	T	C	16: 89,158,146	S48P	unknown	Het
Gpat3	A	T	5: 100,883,388	Y136F	probably benign	Het
Gpr171	T	C	3: 59,097,721	D211G	possibly damaging	Het
Hs3st1	T	C	5: 39,614,448	K284R	probably benign	Het
Htr2a	C	T	14: 74,645,168	A198V	possibly damaging	Het
Ice1	C	A	13: 70,605,904	D688Y	probably damaging	Het
Jade1	T	C	3: 41,604,996	M504T	probably benign	Het
Lrp1	T	C	10: 127,584,381		probably null	Het
Lsr	A	T	7: 30,972,092	I72N	possibly damaging	Het
Magel2	G	A	7: 62,378,809	R487H	possibly damaging	Het
Mertk	A	G	2: 128,782,526	D619G	probably benign	Het
Myo1b	A	T	1: 51,799,563	V245E	probably damaging	Het
Myrip	T	A	9: 120,424,623	L254Q	probably benign	Het
Nav3	A	G	10: 109,767,170	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,771,729	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,109,939	E7G	probably benign	Het
Ninl	A	G	2: 150,975,947	V99A	probably damaging	Het
Noct	G	T	3: 51,247,912	E34*	probably null	Het
Notch1	A	T	2: 26,472,113	Y1043*	probably null	Het
Olfr1420	T	C	19: 11,896,491	S157P	possibly damaging	Het
Olfr532	T	A	7: 140,419,413	Y120F	probably benign	Het
Olfr707	A	G	7: 106,891,276	Y278H	probably damaging	Het
Olfr794	G	A	10: 129,570,771	G39R	probably damaging	Het
Pde7b	C	A	10: 20,479,686	R104L	possibly damaging	Het
Pkn1	C	A	8: 83,670,337	R890L	possibly damaging	Het
Podn	A	T	4: 108,021,567	Y368N	probably damaging	Het
Polr1b	G	A	2: 129,118,099		probably null	Het
Ppp1r3c	A	T	19: 36,733,961	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,120,973	F260Y	probably damaging	Het
Prss39	A	G	1: 34,498,535	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,541,287	V340A	probably benign	Het
Ranbp17	T	C	11: 33,297,394	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,515,555	D181V	probably damaging	Het
Sdk1	T	A	5: 142,094,599	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,149,822	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,809,708	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,335,593	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,725,560		probably benign	Het
Spata31d1b	T	C	13: 59,715,919	S294P	possibly damaging	Het
Ssh1	T	G	5: 113,952,003	T342P	probably damaging	Het
Stk10	T	A	11: 32,533,440	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,584,093	D214E	probably benign	Het
Tdp1	A	G	12: 99,912,312	E453G	probably damaging	Het
Tlr1	T	C	5: 64,926,976	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,043,240	C124S	possibly damaging	Het
Trp63	A	G	16: 25,884,849	M516V	probably benign	Het
Ttc28	T	C	5: 111,100,811	V210A	possibly damaging	Het
Tut1	C	T	19: 8,965,486	R646W	probably benign	Het
Ubald1	C	T	16: 4,876,397	E49K	possibly damaging	Het
Usp28	T	C	9: 49,037,796	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,191,771	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,491,925	M789K	probably damaging	Het
Vwa8	A	G	14: 79,062,562	D945G	probably benign	Het
Wdhd1	T	A	14: 47,245,050	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,083,848		probably null	Het
Xrra1	A	T	7: 99,871,357	E57V	probably damaging	Het

Other mutations in Cse1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cse1l	APN	2	166927804	missense	probably damaging	1.00
IGL01306:Cse1l	APN	2	166927508	nonsense	probably null
IGL01672:Cse1l	APN	2	166929967	missense	probably damaging	1.00
IGL02060:Cse1l	APN	2	166930653	missense	probably damaging	1.00
IGL02897:Cse1l	APN	2	166919708	missense	possibly damaging	0.47
IGL03375:Cse1l	APN	2	166943057	splice site	probably benign
ANU23:Cse1l	UTSW	2	166927508	nonsense	probably null
PIT4585001:Cse1l	UTSW	2	166941474	missense	probably damaging	1.00
R0195:Cse1l	UTSW	2	166940088	missense	probably benign
R1114:Cse1l	UTSW	2	166941203	splice site	probably benign
R1721:Cse1l	UTSW	2	166926411	missense	probably damaging	1.00
R1779:Cse1l	UTSW	2	166940124	splice site	probably null
R1913:Cse1l	UTSW	2	166922191	missense	probably damaging	1.00
R2069:Cse1l	UTSW	2	166941492	missense	probably benign	0.01
R2398:Cse1l	UTSW	2	166928997	missense	probably damaging	1.00
R4110:Cse1l	UTSW	2	166942050	missense	probably benign	0.00
R4195:Cse1l	UTSW	2	166929979	missense	probably damaging	1.00
R4603:Cse1l	UTSW	2	166944532	missense	probably benign	0.09
R4686:Cse1l	UTSW	2	166932160	missense	probably damaging	1.00
R4867:Cse1l	UTSW	2	166926403	missense	possibly damaging	0.76
R4942:Cse1l	UTSW	2	166929794	missense	probably damaging	1.00
R5164:Cse1l	UTSW	2	166944428	missense	probably benign	0.02
R5475:Cse1l	UTSW	2	166941254	missense	probably damaging	1.00
R5493:Cse1l	UTSW	2	166941190	intron	probably benign
R5782:Cse1l	UTSW	2	166929001	missense	probably damaging	1.00
R5862:Cse1l	UTSW	2	166915207	missense	probably benign	0.00
R6030:Cse1l	UTSW	2	166919621	missense	probably benign	0.01
R6030:Cse1l	UTSW	2	166919621	missense	probably benign	0.01
R6913:Cse1l	UTSW	2	166929877	missense	possibly damaging	0.65
R7683:Cse1l	UTSW	2	166922788	missense	probably benign
R7871:Cse1l	UTSW	2	166935671	splice site	probably null
R8001:Cse1l	UTSW	2	166939913	missense	probably damaging	1.00
R8057:Cse1l	UTSW	2	166939925	missense	probably damaging	1.00
R8175:Cse1l	UTSW	2	166943208	critical splice donor site	probably null
R8347:Cse1l	UTSW	2	166927585	missense	possibly damaging	0.95
R8386:Cse1l	UTSW	2	166919684	missense	probably benign	0.00
R8479:Cse1l	UTSW	2	166921973	missense	possibly damaging	0.95
R8973:Cse1l	UTSW	2	166943080	missense	probably damaging	1.00
R9206:Cse1l	UTSW	2	166941265	missense	probably damaging	1.00
R9208:Cse1l	UTSW	2	166941265	missense	probably damaging	1.00
R9522:Cse1l	UTSW	2	166934753	missense	probably benign
R9599:Cse1l	UTSW	2	166941466	missense	probably benign
R9600:Cse1l	UTSW	2	166915199	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTGGGACTGCTAGGATAGTGAC -3'
(R):5'- CTTCCAAAACCAATGCTGGGGAAAG -3'

Sequencing Primer
(F):5'- actccctttttctgcctcac -3'
(R):5'- AAGCAGCCTTGTCAGGTG -3'

Posted On

2014-04-13