Mutagenetix > Incidental Mutation

Incidental Mutation 'R1721:Cse1l'

191440

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1 like

Synonyms

Cas, Xpo2, Capts, 2610100P18Rik

MMRRC Submission

039753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166747961-166788309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166768331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 210 (S210P)

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: S210P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: S210P

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 damaging
Transcript: ENSMUST00000168599
AA Change: S210P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: S210P

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: S210P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: S210P

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

Meta Mutation Damage Score

0.6665

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,901,995 (GRCm39)	V559E	probably benign	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Adcy5	C	A	16: 35,118,794 (GRCm39)	D1048E	probably damaging	Het
Agrn	A	T	4: 156,259,630 (GRCm39)	C768*	probably null	Het
Aldh18a1	G	T	19: 40,553,282 (GRCm39)	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,896,302 (GRCm39)	D246A	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Cage1	T	A	13: 38,207,309 (GRCm39)	K285*	probably null	Het
Ccn2	A	C	10: 24,472,695 (GRCm39)	T202P	probably damaging	Het
Cldn17	A	G	16: 88,303,444 (GRCm39)	L95P	probably damaging	Het
Cldn20	A	T	17: 3,583,157 (GRCm39)	D110V	probably damaging	Het
Cnot10	T	C	9: 114,444,067 (GRCm39)	T443A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Col23a1	T	C	11: 51,418,716 (GRCm39)	Y135H	unknown	Het
Cspg4	T	G	9: 56,796,027 (GRCm39)	V1254G	probably damaging	Het
Dip2c	A	G	13: 9,709,404 (GRCm39)	T1415A	probably damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Epha2	A	G	4: 141,049,963 (GRCm39)	S799G	probably damaging	Het
Fndc10	A	G	4: 155,779,355 (GRCm39)	Y133C	probably damaging	Het
Gli3	G	T	13: 15,900,882 (GRCm39)	S1423I	probably benign	Het
Gm6034	A	T	17: 36,354,045 (GRCm39)		probably benign	Het
Gmip	A	G	8: 70,263,882 (GRCm39)	S109G	probably damaging	Het
Grik2	C	A	10: 49,399,842 (GRCm39)	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Il6	T	A	5: 30,218,490 (GRCm39)	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Itga9	A	G	9: 118,527,374 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,056,345 (GRCm39)	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,540,919 (GRCm39)		probably benign	Het
Knl1	T	G	2: 118,906,815 (GRCm39)	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lox	T	G	18: 52,653,983 (GRCm39)		probably null	Het
Mdc1	A	G	17: 36,158,718 (GRCm39)	D366G	possibly damaging	Het
Meiob	T	C	17: 25,053,021 (GRCm39)	C344R	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mon2	A	T	10: 122,867,002 (GRCm39)	M551K	probably damaging	Het
Mrps15	A	G	4: 125,945,187 (GRCm39)	T125A	probably benign	Het
Mtmr14	A	G	6: 113,230,693 (GRCm39)	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598 (GRCm39)	M1T	probably null	Het
Mup5	G	A	4: 61,750,607 (GRCm39)	R179*	probably null	Het
Ncoa3	T	G	2: 165,911,221 (GRCm39)	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,455,428 (GRCm39)	N429K	probably benign	Het
Nrxn1	C	T	17: 90,469,832 (GRCm39)	A241T	probably damaging	Het
Or1p1	A	T	11: 74,180,126 (GRCm39)	Y218F	probably damaging	Het
Or2t49	C	T	11: 58,392,765 (GRCm39)	V206M	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Peg3	C	A	7: 6,712,900 (GRCm39)	S774I	possibly damaging	Het
Phyh	A	G	2: 4,942,620 (GRCm39)	K321R	probably null	Het
Plcg1	T	A	2: 160,573,840 (GRCm39)	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppargc1b	T	A	18: 61,440,275 (GRCm39)		probably null	Het
Prcd	A	C	11: 116,548,371 (GRCm39)	S27R	probably benign	Het
Prx	T	A	7: 27,216,948 (GRCm39)	M622K	probably benign	Het
Psmd1	T	A	1: 85,999,567 (GRCm39)	D51E	probably damaging	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Ptprf	A	C	4: 118,082,096 (GRCm39)	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,377,096 (GRCm39)	N53K	probably benign	Het
Scn4a	C	T	11: 106,211,646 (GRCm39)	R1457H	probably benign	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Shbg	T	C	11: 69,505,798 (GRCm39)	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,049,845 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a16	T	A	7: 44,910,600 (GRCm39)	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Slmap	A	G	14: 26,181,373 (GRCm39)		probably benign	Het
Sorcs2	G	A	5: 36,184,092 (GRCm39)	R965W	probably damaging	Het
St8sia4	C	A	1: 95,581,394 (GRCm39)	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,652,272 (GRCm39)	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,899,072 (GRCm39)	Y676F	probably benign	Het
Tmod2	A	G	9: 75,493,324 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,435,391 (GRCm39)		probably null	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp54	A	T	14: 20,633,508 (GRCm39)	Y37*	probably null	Het
Vill	T	C	9: 118,895,082 (GRCm39)	F100S	probably damaging	Het
Vstm5	A	G	9: 15,168,663 (GRCm39)	R76G	probably benign	Het
Zfp608	T	C	18: 55,032,321 (GRCm39)	T540A	probably benign	Het
Zfp947	A	C	17: 22,365,184 (GRCm39)	N163K	probably benign	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	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
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
R4867:Cse1l	UTSW	2	166,768,323 (GRCm39)	missense	possibly damaging	0.76
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'- GGCCTCCTTTGGAGAAGAAATACAAGTT -3'
(R):5'- CCACGGGTCGCCATAGACACAT -3'

Sequencing Primer
(F):5'- CAAGTTGTCTCAGCATAGTATAAAGC -3'
(R):5'- agaaaccctgtcttgaaaaacc -3'

Posted On

2014-05-14