Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Cse1l'

486176

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1 like

Synonyms

Cas, Xpo2, Capts, 2610100P18Rik

MMRRC Submission

044202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166747961-166788309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166761541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 32 (F32L)

Ref Sequence

ENSEMBL: ENSMUSP00000128376 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: F32L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: F32L

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: ENSMUST00000168599
AA Change: F32L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: F32L

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: F32L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: F32L

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,910,794 (GRCm39)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,330,866 (GRCm39)	D50V	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,012,088 (GRCm39)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Esrrg	A	G	1: 187,930,904 (GRCm39)	M309V	probably benign	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Ypel1	A	G	16: 16,902,377 (GRCm39)		probably null	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	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
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
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'- CTGTGTGCTTCAGAGTGTAGCC -3'
(R):5'- CCTGTTCATCATTAATGGCTGAATC -3'

Sequencing Primer
(F):5'- CTTCAGAGTGTAGCCTGGGC -3'
(R):5'- TGAAGGTTACTGAAGCACA -3'

Posted On

2017-08-16