Incidental Mutation 'R5475:Cse1l'
ID 434003
Institutional Source Beutler Lab
Gene Symbol Cse1l
Ensembl Gene ENSMUSG00000002718
Gene Name chromosome segregation 1 like
Synonyms Cas, Xpo2, Capts, 2610100P18Rik
MMRRC Submission 043036-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5475 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 166747961-166788309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166783174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 684 (S684P)
Ref Sequence ENSEMBL: ENSMUSP00000129983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000169290]
AlphaFold Q9ERK4
Predicted Effect probably damaging
Transcript: ENSMUST00000002790
AA Change: S740P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: S740P

DomainStartEndE-ValueType
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: ENSMUST00000129061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145819
Predicted Effect probably damaging
Transcript: ENSMUST00000163437
AA Change: S427P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: S427P

DomainStartEndE-ValueType
Pfam:Cse1 1 237 7.9e-105 PFAM
Pfam:CAS_CSE1 225 649 2.3e-195 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163917
Predicted Effect probably benign
Transcript: ENSMUST00000164974
SMART Domains Protein: ENSMUSP00000128515
Gene: ENSMUSG00000002718

DomainStartEndE-ValueType
Pfam:CAS_CSE1 24 72 5.4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168599
AA Change: S684P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: S684P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000171410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172037
Predicted Effect probably benign
Transcript: ENSMUST00000169290
SMART Domains Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718

DomainStartEndE-ValueType
IBN_N 29 102 2e-10 SMART
Pfam:Cse1 156 389 5.2e-102 PFAM
Meta Mutation Damage Score 0.8533 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
AA467197 A G 2: 122,482,646 (GRCm39) K70R probably damaging Het
Agr3 A G 12: 35,997,539 (GRCm39) N83S probably benign Het
Alpk2 T C 18: 65,440,083 (GRCm39) T904A probably benign Het
Ank A T 15: 27,557,285 (GRCm39) K156N probably damaging Het
Arsb T G 13: 93,998,773 (GRCm39) D360E probably benign Het
Atg14 C T 14: 47,805,793 (GRCm39) R24Q possibly damaging Het
Cacna1e A T 1: 154,601,455 (GRCm39) F71I possibly damaging Het
Cdc42bpg T C 19: 6,361,101 (GRCm39) I242T probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Col6a6 T C 9: 105,651,537 (GRCm39) H1158R probably null Het
Cyp2c29 A T 19: 39,318,731 (GRCm39) M404L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dph7 A T 2: 24,858,969 (GRCm39) probably null Het
Dsg1c A T 18: 20,415,088 (GRCm39) N662Y probably damaging Het
Efcab9 T G 11: 32,472,862 (GRCm39) D195A probably damaging Het
Ephb4 A G 5: 137,352,701 (GRCm39) M95V probably benign Het
Fam171a1 A T 2: 3,226,334 (GRCm39) Y489F possibly damaging Het
Fars2 T C 13: 36,388,553 (GRCm39) I14T probably benign Het
Fbxo34 T C 14: 47,766,802 (GRCm39) V54A probably benign Het
Fbxw17 T C 13: 50,579,684 (GRCm39) I167T probably benign Het
Fzd9 A T 5: 135,279,123 (GRCm39) probably null Het
Gm26996 T A 6: 130,556,918 (GRCm39) noncoding transcript Het
Gm4744 A G 6: 40,927,388 (GRCm39) probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Has1 C A 17: 18,068,583 (GRCm39) R257L possibly damaging Het
Hjv T C 3: 96,434,599 (GRCm39) S113P probably benign Het
Hsd17b8 C T 17: 34,246,287 (GRCm39) probably benign Het
Kat2b T G 17: 53,970,609 (GRCm39) V665G probably damaging Het
Klhdc4 T A 8: 122,526,311 (GRCm39) H276L possibly damaging Het
Klhl6 A T 16: 19,766,877 (GRCm39) C506S probably damaging Het
Ldb2 T C 5: 44,699,174 (GRCm39) Y88C probably damaging Het
Lrit1 A G 14: 36,776,958 (GRCm39) E26G probably benign Het
Mcoln2 A G 3: 145,889,541 (GRCm39) Y414C probably damaging Het
Mfsd5 A G 15: 102,188,928 (GRCm39) D100G probably damaging Het
Micall2 T A 5: 139,702,224 (GRCm39) S340C probably damaging Het
Npsr1 T C 9: 24,211,715 (GRCm39) I81T probably damaging Het
Or2bd2 G T 7: 6,443,169 (GRCm39) R90L probably benign Het
Or2t49 A G 11: 58,392,431 (GRCm39) V317A probably benign Het
Or6x1 T A 9: 40,099,005 (GRCm39) L198H possibly damaging Het
Or8b56 T A 9: 38,739,762 (GRCm39) F258L possibly damaging Het
Pax3 T C 1: 78,080,055 (GRCm39) T444A probably benign Het
Pea15a A G 1: 172,026,809 (GRCm39) probably null Het
Phc1 T A 6: 122,311,051 (GRCm39) Q95L possibly damaging Het
Plch2 T C 4: 155,084,594 (GRCm39) Y361C probably damaging Het
Pphln1-ps1 A T 16: 13,494,977 (GRCm39) R25S possibly damaging Het
Rad54l2 C T 9: 106,583,057 (GRCm39) G787D probably damaging Het
Rbm20 G T 19: 53,823,136 (GRCm39) E578* probably null Het
Sipa1l2 A T 8: 126,218,334 (GRCm39) D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thumpd1 A G 7: 119,319,943 (GRCm39) S8P probably benign Het
Tnxb T C 17: 34,908,567 (GRCm39) Y1407H probably damaging Het
Trav2 T A 14: 52,805,290 (GRCm39) V37E probably damaging Het
Trav3-1 G T 14: 52,818,494 (GRCm39) W56L probably damaging Het
Usp31 A T 7: 121,250,749 (GRCm39) L808Q probably damaging Het
Vmn1r52 C T 6: 90,155,894 (GRCm39) A66V probably benign Het
Vmn2r105 T A 17: 20,455,044 (GRCm39) I31L probably benign Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zbtb2 G T 10: 4,319,275 (GRCm39) F250L probably benign Het
Other mutations in Cse1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCTATGTGTCTGATACTCAGTC -3'
(R):5'- ACTCTTGATAAACTTGGTGGTCTTG -3'

Sequencing Primer
(F):5'- GTGTCTGATACTCAGTCCACCACAC -3'
(R):5'- AAGATCTGCTTCCTATACTGGTCAAC -3'
Posted On 2016-10-06