Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03375:Cse1l'

420470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1-like (S. cerevisiae)

Synonyms

Capts, Xpo2, 2610100P18Rik, Cas

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 166943057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000109235] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000169290]

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718

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

probably benign
Transcript: ENSMUST00000109235

SMART Domains

Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	199	265	5.54e-22	SMART
PDB:4DKK\|A	355	469	3e-69	PDB
Blast:DSRM	401	466	3e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145819

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: ENSMUST00000163917

Predicted Effect

probably benign
Transcript: ENSMUST00000164974

SMART Domains

Protein: ENSMUSP00000128515
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
Pfam:CAS_CSE1	24	72	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168599

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718

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

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172037

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,602,828	S959P	probably damaging	Het
Arrb2	G	A	11: 70,436,179	G24D	probably damaging	Het
Catsper4	A	G	4: 134,218,208	I180T	probably damaging	Het
Chst15	G	A	7: 132,270,457	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,162,205	Y594F	possibly damaging	Het
Dab1	A	T	4: 104,681,601	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,422,318	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,838,220		probably benign	Het
Fryl	C	A	5: 73,088,449	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,426,210		probably benign	Het
Gm960	T	C	19: 4,698,178	E164G	probably benign	Het
Gstt2	A	T	10: 75,832,821		probably null	Het
Hcst	T	G	7: 30,418,611		probably benign	Het
Hectd4	A	G	5: 121,328,382	E2420G	possibly damaging	Het
Hist2h4	T	C	3: 96,263,142	T55A	possibly damaging	Het
Ifi206	A	T	1: 173,480,778	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,769,487		probably benign	Het
Krtap6-2	A	G	16: 89,419,756	Y108H	unknown	Het
Krtap6-5	T	G	16: 89,047,852		probably benign	Het
Muc5b	A	G	7: 141,861,962	T2882A	possibly damaging	Het
Nup214	C	T	2: 32,010,221	T854M	probably damaging	Het
Olfml2b	A	G	1: 170,649,832	K179E	probably benign	Het
Olfr1281	A	T	2: 111,328,884	H155L	probably damaging	Het
Olfr149	A	G	9: 39,702,575	S65P	probably damaging	Het
Per2	A	T	1: 91,424,228	I852K	possibly damaging	Het
Pkhd1	A	T	1: 20,117,023	I3687N	probably damaging	Het
Slc7a2	A	T	8: 40,916,373	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,482,912	V719I	probably damaging	Het
Syne2	T	C	12: 75,925,435	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,447,719	A658V	possibly damaging	Het
Tpm3	A	G	3: 90,073,772	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trmu	T	A	15: 85,894,937	Y262N	possibly damaging	Het
Uox	C	T	3: 146,625,835	T213I	probably damaging	Het
Vps13d	A	G	4: 145,091,947	W2R	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
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
R1539:Cse1l	UTSW	2	166926372	missense	probably benign	0.00
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

Posted On

2016-08-02