Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Cse1l'

376207

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1 like

Synonyms

Cas, Xpo2, Capts, 2610100P18Rik

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166747961-166788309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166768323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 207 (I207N)

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: I207N

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: I207N

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

possibly damaging
Transcript: ENSMUST00000168599
AA Change: I207N

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: I207N

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

possibly damaging
Transcript: ENSMUST00000169290
AA Change: I207N

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: I207N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Cse1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cse1l	APN	2	166,769,724 (GRCm39)	missense	probably damaging	1.00
IGL01306:Cse1l	APN	2	166,769,428 (GRCm39)	nonsense	probably null
IGL01672:Cse1l	APN	2	166,771,887 (GRCm39)	missense	probably damaging	1.00
IGL02060:Cse1l	APN	2	166,772,573 (GRCm39)	missense	probably damaging	1.00
IGL02897:Cse1l	APN	2	166,761,628 (GRCm39)	missense	possibly damaging	0.47
IGL03375:Cse1l	APN	2	166,784,977 (GRCm39)	splice site	probably benign
ANU23:Cse1l	UTSW	2	166,769,428 (GRCm39)	nonsense	probably null
PIT4585001:Cse1l	UTSW	2	166,783,394 (GRCm39)	missense	probably damaging	1.00
R0195:Cse1l	UTSW	2	166,782,008 (GRCm39)	missense	probably benign
R1114:Cse1l	UTSW	2	166,783,123 (GRCm39)	splice site	probably benign
R1539:Cse1l	UTSW	2	166,768,292 (GRCm39)	missense	probably benign	0.00
R1721:Cse1l	UTSW	2	166,768,331 (GRCm39)	missense	probably damaging	1.00
R1779:Cse1l	UTSW	2	166,782,044 (GRCm39)	splice site	probably null
R1913:Cse1l	UTSW	2	166,764,111 (GRCm39)	missense	probably damaging	1.00
R2069:Cse1l	UTSW	2	166,783,412 (GRCm39)	missense	probably benign	0.01
R2398:Cse1l	UTSW	2	166,770,917 (GRCm39)	missense	probably damaging	1.00
R4110:Cse1l	UTSW	2	166,783,970 (GRCm39)	missense	probably benign	0.00
R4195:Cse1l	UTSW	2	166,771,899 (GRCm39)	missense	probably damaging	1.00
R4603:Cse1l	UTSW	2	166,786,452 (GRCm39)	missense	probably benign	0.09
R4686:Cse1l	UTSW	2	166,774,080 (GRCm39)	missense	probably damaging	1.00
R4942:Cse1l	UTSW	2	166,771,714 (GRCm39)	missense	probably damaging	1.00
R5164:Cse1l	UTSW	2	166,786,348 (GRCm39)	missense	probably benign	0.02
R5475:Cse1l	UTSW	2	166,783,174 (GRCm39)	missense	probably damaging	1.00
R5493:Cse1l	UTSW	2	166,783,110 (GRCm39)	intron	probably benign
R5782:Cse1l	UTSW	2	166,770,921 (GRCm39)	missense	probably damaging	1.00
R5862:Cse1l	UTSW	2	166,757,127 (GRCm39)	missense	probably benign	0.00
R6030:Cse1l	UTSW	2	166,761,541 (GRCm39)	missense	probably benign	0.01
R6030:Cse1l	UTSW	2	166,761,541 (GRCm39)	missense	probably benign	0.01
R6913:Cse1l	UTSW	2	166,771,797 (GRCm39)	missense	possibly damaging	0.65
R7683:Cse1l	UTSW	2	166,764,708 (GRCm39)	missense	probably benign
R7871:Cse1l	UTSW	2	166,777,591 (GRCm39)	splice site	probably null
R8001:Cse1l	UTSW	2	166,781,833 (GRCm39)	missense	probably damaging	1.00
R8057:Cse1l	UTSW	2	166,781,845 (GRCm39)	missense	probably damaging	1.00
R8175:Cse1l	UTSW	2	166,785,128 (GRCm39)	critical splice donor site	probably null
R8347:Cse1l	UTSW	2	166,769,505 (GRCm39)	missense	possibly damaging	0.95
R8386:Cse1l	UTSW	2	166,761,604 (GRCm39)	missense	probably benign	0.00
R8479:Cse1l	UTSW	2	166,763,893 (GRCm39)	missense	possibly damaging	0.95
R8973:Cse1l	UTSW	2	166,785,000 (GRCm39)	missense	probably damaging	1.00
R9206:Cse1l	UTSW	2	166,783,185 (GRCm39)	missense	probably damaging	1.00
R9208:Cse1l	UTSW	2	166,783,185 (GRCm39)	missense	probably damaging	1.00
R9522:Cse1l	UTSW	2	166,776,673 (GRCm39)	missense	probably benign
R9599:Cse1l	UTSW	2	166,783,386 (GRCm39)	missense	probably benign
R9600:Cse1l	UTSW	2	166,757,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGCTACTGTTTAAAGGCCTCC -3'
(R):5'- TCCAAGGAGCACTTACAAATGC -3'

Sequencing Primer
(F):5'- CCTTTGGAGAAGAAATACAAGTTGTC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2016-03-17