Incidental Mutation 'IGL02897:Cse1l'
ID 363445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cse1l
Ensembl Gene ENSMUSG00000002718
Gene Name chromosome segregation 1 like
Synonyms Cas, Xpo2, Capts, 2610100P18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02897
Quality Score
Status
Chromosome 2
Chromosomal Location 166747961-166788309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166761628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 61 (C61R)
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: C61R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: C61R

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 probably benign
Transcript: ENSMUST00000168599
AA Change: C61R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: C61R

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 possibly damaging
Transcript: ENSMUST00000169290
AA Change: C61R

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: C61R

DomainStartEndE-ValueType
IBN_N 29 102 2e-10 SMART
Pfam:Cse1 156 389 5.2e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171410
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,467,308 (GRCm39) E108D probably benign Het
Abca7 T C 10: 79,837,426 (GRCm39) F437L probably damaging Het
Abi2 T C 1: 60,487,353 (GRCm39) V134A probably damaging Het
Ablim2 T C 5: 35,990,470 (GRCm39) I75T probably damaging Het
Aldh1a3 A G 7: 66,077,075 (GRCm39) V29A probably benign Het
Bptf T C 11: 106,937,947 (GRCm39) K2715E probably damaging Het
Cd163 A T 6: 124,302,486 (GRCm39) S1017C probably damaging Het
Cdc14b T C 13: 64,395,067 (GRCm39) I76V probably benign Het
Cers6 T A 2: 68,764,877 (GRCm39) C63* probably null Het
Chd9 T C 8: 91,660,496 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,179 (GRCm39) N198D unknown Het
Cubn T C 2: 13,323,123 (GRCm39) T2815A possibly damaging Het
Cyp19a1 G T 9: 54,074,195 (GRCm39) T453K possibly damaging Het
Dlg1 G T 16: 31,590,674 (GRCm39) probably null Het
Dpp7 T C 2: 25,243,684 (GRCm39) Y339C probably damaging Het
Dtl T C 1: 191,273,656 (GRCm39) probably benign Het
Gm5591 T C 7: 38,219,466 (GRCm39) E469G probably damaging Het
Ing3 T A 6: 21,969,325 (GRCm39) V202E probably benign Het
Inpp5j A G 11: 3,450,619 (GRCm39) L578P probably damaging Het
Irak4 A G 15: 94,451,872 (GRCm39) N155S probably benign Het
Kif2b A T 11: 91,467,045 (GRCm39) S413T probably damaging Het
L3mbtl1 A T 2: 162,807,692 (GRCm39) Y490F probably damaging Het
Med17 T G 9: 15,178,830 (GRCm39) D447A probably damaging Het
Med26 T C 8: 73,250,365 (GRCm39) T245A probably benign Het
Nlrc3 A T 16: 3,781,938 (GRCm39) S490R possibly damaging Het
Nme5 A G 18: 34,702,956 (GRCm39) probably benign Het
Or51aa5 T C 7: 103,167,337 (GRCm39) R85G probably benign Het
Rnf10 G T 5: 115,386,700 (GRCm39) Q530K probably benign Het
Robo3 A T 9: 37,338,798 (GRCm39) Y281* probably null Het
Sclt1 T C 3: 41,629,822 (GRCm39) I330V probably benign Het
Smim14 A T 5: 65,607,739 (GRCm39) probably benign Het
Trank1 T G 9: 111,196,585 (GRCm39) H1536Q probably damaging Het
Tspan18 A G 2: 93,050,518 (GRCm39) L35P possibly damaging Het
Ubr4 G A 4: 139,199,819 (GRCm39) V4568M probably damaging Het
Vmn1r63 A G 7: 5,805,744 (GRCm39) V296A possibly damaging 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
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
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
Posted On 2015-12-18