Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Cse1l'

539150

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1 like

Synonyms

Cas, Xpo2, Capts, 2610100P18Rik

MMRRC Submission

045034-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166747961-166788309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 166771797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 353 (V353I)

Ref Sequence

ENSEMBL: ENSMUSP00000129983 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: V409I

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: V409I

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: ENSMUST00000163437
AA Change: V124I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: V124I

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

possibly damaging
Transcript: ENSMUST00000168599
AA Change: V353I

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: V353I

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

Meta Mutation Damage Score

0.0957

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,197,494 (GRCm39)	I619N	possibly damaging	Het
Accsl	T	C	2: 93,696,488 (GRCm39)	K41E	possibly damaging	Het
Actr6	T	C	10: 89,562,558 (GRCm39)	E107G	probably damaging	Het
Adam7	T	A	14: 68,771,100 (GRCm39)	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,778 (GRCm39)	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,877,017 (GRCm39)	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 123,621,650 (GRCm39)	D734G	probably benign	Het
Ap1b1	T	C	11: 4,962,972 (GRCm39)	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,387,390 (GRCm39)	V79A	probably damaging	Het
Aste1	T	A	9: 105,274,607 (GRCm39)	S221R	probably benign	Het
Ccndbp1	G	A	2: 120,840,347 (GRCm39)	E94K	probably benign	Het
Cdc34	G	A	10: 79,520,937 (GRCm39)		probably null	Het
Cdh16	T	C	8: 105,348,896 (GRCm39)	D67G	probably benign	Het
Chd8	T	C	14: 52,451,951 (GRCm39)	E1348G	probably damaging	Het
Chl1	C	T	6: 103,642,909 (GRCm39)	Q216*	probably null	Het
Ctbp2	G	A	7: 132,616,455 (GRCm39)	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,607,576 (GRCm39)	T68K	probably damaging	Het
Dennd11	T	C	6: 40,383,851 (GRCm39)	N397S	possibly damaging	Het
Dlgap2	T	A	8: 14,828,374 (GRCm39)	M594K	probably benign	Het
Dnah6	C	T	6: 73,189,505 (GRCm39)	E48K	probably benign	Het
Dock2	A	G	11: 34,647,049 (GRCm39)	V35A	probably damaging	Het
Edem2	A	T	2: 155,568,594 (GRCm39)	S73R	probably damaging	Het
Eps15	T	C	4: 109,218,427 (GRCm39)	V430A	probably benign	Het
Frem2	T	C	3: 53,424,242 (GRCm39)	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,269,090 (GRCm39)	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,876,841 (GRCm39)	I937F	possibly damaging	Het
Gfod2	C	T	8: 106,443,995 (GRCm39)	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 111,898,339 (GRCm39)		probably null	Het
Gm7145	T	G	1: 117,913,711 (GRCm39)	C198G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Eb2	G	A	17: 34,552,523 (GRCm39)	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,172,129 (GRCm39)	I7V	probably benign	Het
Itpripl2	G	T	7: 118,090,332 (GRCm39)	P76T	possibly damaging	Het
Kat6a	C	A	8: 23,393,215 (GRCm39)	A231E	possibly damaging	Het
Lipo3	C	T	19: 33,757,705 (GRCm39)	V255I	probably benign	Het
Mamstr	A	T	7: 45,292,662 (GRCm39)	M141L	probably benign	Het
Med13	A	G	11: 86,210,702 (GRCm39)	V480A	probably benign	Het
Mei1	A	G	15: 81,973,810 (GRCm39)	N523S	probably benign	Het
Mill2	A	G	7: 18,590,351 (GRCm39)	T144A	probably null	Het
Muc16	C	A	9: 18,553,959 (GRCm39)	L4111F	unknown	Het
Mylk2	G	A	2: 152,755,610 (GRCm39)	G258E	possibly damaging	Het
Myom2	T	G	8: 15,115,710 (GRCm39)	S42A	probably benign	Het
Nab1	C	A	1: 52,503,995 (GRCm39)	G401C	possibly damaging	Het
Nifk	T	C	1: 118,260,592 (GRCm39)	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,830,357 (GRCm39)	Q224K	probably benign	Het
Nop16	T	G	13: 54,737,553 (GRCm39)	K47Q	probably damaging	Het
Nup153	A	T	13: 46,853,192 (GRCm39)	S548R	probably damaging	Het
Or2at1	A	C	7: 99,416,924 (GRCm39)	D185A	probably damaging	Het
Or4g17	A	G	2: 111,209,347 (GRCm39)	M1V	probably null	Het
Or5b111	A	G	19: 13,290,998 (GRCm39)	I217T	probably benign	Het
Pard6g	G	A	18: 80,160,534 (GRCm39)	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,706,038 (GRCm39)	V421I	probably benign	Het
Pcif1	G	A	2: 164,726,224 (GRCm39)		probably null	Het
Pde11a	C	A	2: 76,168,084 (GRCm39)	V290F	probably damaging	Het
Pisd	T	C	5: 32,894,773 (GRCm39)	Y511C	probably damaging	Het
Polg	A	T	7: 79,110,405 (GRCm39)	D276E	probably damaging	Het
Polr3b	T	C	10: 84,549,496 (GRCm39)	V906A	probably damaging	Het
Prkcg	C	T	7: 3,362,335 (GRCm39)	P270S	probably benign	Het
Rapgef2	T	A	3: 78,993,281 (GRCm39)	I884F	probably damaging	Het
Rpl13	C	A	8: 123,830,014 (GRCm39)	N113K	possibly damaging	Het
Rxra	T	A	2: 27,631,186 (GRCm39)	I139N	probably damaging	Het
Sf3b5	T	A	10: 12,884,487 (GRCm39)	C41S	probably benign	Het
Spata31e3	G	T	13: 50,399,293 (GRCm39)	P1011H	probably damaging	Het
Stk24	C	T	14: 121,540,221 (GRCm39)	R126Q	probably damaging	Het
Taar8b	T	C	10: 23,967,963 (GRCm39)	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,468,452 (GRCm39)	C566S	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Thbs4	T	A	13: 92,894,444 (GRCm39)	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,172,126 (GRCm39)	C61*	probably null	Het
Trp63	A	G	16: 25,707,918 (GRCm39)	E636G	probably damaging	Het
Try5	T	C	6: 41,288,266 (GRCm39)	Y121C	probably damaging	Het
Ttn	G	T	2: 76,660,755 (GRCm39)		probably benign	Het
Vamp1	T	A	6: 125,195,908 (GRCm39)	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,698,537 (GRCm39)	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,924,323 (GRCm39)	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775 (GRCm39)	D71E	probably benign	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
R6030:Cse1l	UTSW	2	166,761,541 (GRCm39)	missense	probably benign	0.01
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'- GACTCTGGACACAGCTCATC -3'
(R):5'- AGCTCAACAGACTGCGGTAG -3'

Sequencing Primer
(F):5'- GGGTGCACATAGAAACTCTGTCTC -3'
(R):5'- TGCGGTAGAAGAAACACATCCTTTC -3'

Posted On

2018-11-06