Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01672:Cse1l'

103538

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 #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166929967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 402 (I402T)

Ref Sequence

ENSEMBL: ENSMUSP00000128376 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002790
AA Change: S439P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: S439P

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

noncoding transcript
Transcript: ENSMUST00000145819

Predicted Effect

probably damaging
Transcript: ENSMUST00000163437
AA Change: S154P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: S154P

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

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

noncoding transcript
Transcript: ENSMUST00000166871

Predicted Effect

probably damaging
Transcript: ENSMUST00000168599
AA Change: S383P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: S383P

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 damaging
Transcript: ENSMUST00000169290
AA Change: I402T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: I402T

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,641,357	E203G	probably damaging	Het
AI314180	A	G	4: 58,814,041	V1355A	probably benign	Het
Ano1	G	T	7: 144,655,675	Q206K	probably damaging	Het
Ap4e1	T	A	2: 127,052,189	S620T	probably damaging	Het
Arfip1	A	T	3: 84,548,032		probably benign	Het
Atp8a2	A	T	14: 59,691,533	M1024K	probably benign	Het
Brap	T	C	5: 121,678,845		probably benign	Het
Calcrl	T	A	2: 84,345,070	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,607,873		probably null	Het
Cpb1	T	A	3: 20,275,421	Q47L	probably null	Het
Dnah17	A	G	11: 118,042,160	S3591P	probably damaging	Het
Dst	T	G	1: 34,225,693	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884	R2194*	probably null	Het
Eno4	A	G	19: 58,943,545	N30S	possibly damaging	Het
Ero1l	A	C	14: 45,292,430	S349A	probably benign	Het
Fat1	C	T	8: 45,040,700	T3938I	probably benign	Het
Focad	T	C	4: 88,360,590		probably null	Het
Gnai3	A	T	3: 108,109,459	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,557	V221A	probably benign	Het
Gpr153	C	A	4: 152,279,913	S142*	probably null	Het
Itpr1	C	A	6: 108,381,032	Y557*	probably null	Het
Nat8f5	A	G	6: 85,817,952	Y9H	probably damaging	Het
Nbas	T	C	12: 13,379,649	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,675,407	V1047A	possibly damaging	Het
Olfr330	A	C	11: 58,529,122	L288R	probably benign	Het
Olfr491	T	A	7: 108,317,518	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,766,824	T178I	probably damaging	Het
Palld	T	A	8: 61,877,502	I114F	probably benign	Het
Pcca	A	T	14: 122,690,145	Y440F	probably benign	Het
Pclo	T	C	5: 14,678,535		probably benign	Het
Piwil1	T	C	5: 128,749,973	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,080,732	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,847,682	K91R	possibly damaging	Het
Rars	A	T	11: 35,808,553	C638S	probably damaging	Het
Relb	T	A	7: 19,611,694	H406L	probably benign	Het
Ros1	G	T	10: 52,101,803	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,270,169	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,751,934	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,185,175	M1931K	probably benign	Het
Sphk2	T	C	7: 45,711,653	D309G	possibly damaging	Het
Stil	T	C	4: 115,032,789	S825P	probably damaging	Het
Swt1	C	T	1: 151,394,608		probably null	Het
Virma	C	T	4: 11,527,792	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,508,502	H362Q	probably benign	Het
Zfp451	C	A	1: 33,762,166	M1056I	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	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
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
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

2014-01-21