Incidental Mutation 'R0046:Seh1l'
ID15827
Institutional Source Beutler Lab
Gene Symbol Seh1l
Ensembl Gene ENSMUSG00000079614
Gene NameSEH1-like (S. cerevisiae
Synonyms2610007A16Rik
MMRRC Submission 038340-MU
Accession Numbers

Ncbi RefSeq: NM_001039088.1, NM_028112.2; MGI: 1919374

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0046 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location67774876-67795461 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 67792016 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025421]
Predicted Effect probably null
Transcript: ENSMUST00000025421
SMART Domains Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614

DomainStartEndE-ValueType
WD40 1 40 1.08e-4 SMART
WD40 46 87 1.88e-4 SMART
WD40 102 143 8.49e-3 SMART
WD40 152 201 1.14e2 SMART
Blast:WD40 208 249 1e-20 BLAST
WD40 267 306 1.28e-6 SMART
low complexity region 327 351 N/A INTRINSIC
Meta Mutation Damage Score 0.548 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(122) : Targeted(2) Gene trapped(120)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 K135* probably null Het
Adamts16 A G 13: 70,763,460 S871P probably benign Het
Adcy10 A T 1: 165,539,834 I558F probably damaging Het
Adsl T G 15: 80,962,788 probably null Het
Aldob T C 4: 49,543,842 I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 E46G probably damaging Het
Atp1a4 A T 1: 172,240,097 L533Q probably benign Het
Auts2 T C 5: 131,770,785 noncoding transcript Het
B3gnt3 T C 8: 71,692,923 Y267C probably damaging Het
BC051142 T C 17: 34,460,121 probably null Het
Ccdc39 A G 3: 33,844,152 F15L possibly damaging Het
Cntnap5c T G 17: 58,359,300 D1108E probably benign Het
Col14a1 G A 15: 55,408,963 probably benign Het
Col9a3 G A 2: 180,609,487 A317T possibly damaging Het
Cpt1c A T 7: 44,959,832 probably benign Het
Cpt2 A G 4: 107,904,362 probably null Het
Crebrf T A 17: 26,763,334 L565M probably damaging Het
Dmxl1 T A 18: 49,878,082 V1102E probably benign Het
Dock4 G A 12: 40,737,360 probably benign Het
Dpp3 G T 19: 4,914,643 N545K probably damaging Het
Elmo2 T A 2: 165,298,726 N275I probably damaging Het
Farp1 A G 14: 121,255,513 K509R probably benign Het
Flg T A 3: 93,277,721 probably benign Het
Gas2l2 A T 11: 83,421,910 W859R probably damaging Het
Gatm T C 2: 122,600,744 D254G probably damaging Het
Gjd4 T A 18: 9,280,998 I27F probably damaging Het
Gm19410 A G 8: 35,802,645 E1148G probably benign Het
Haus5 C T 7: 30,654,180 V591I probably benign Het
Kcnab3 G A 11: 69,330,227 probably null Het
Limk1 T C 5: 134,672,761 Y96C probably damaging Het
Lrp2bp T A 8: 46,013,155 Y100* probably null Het
Ly75 A T 2: 60,339,457 probably benign Het
Mamstr T G 7: 45,641,770 probably benign Het
Man1a A G 10: 53,919,187 Y657H probably damaging Het
Marf1 G A 16: 14,111,727 P1672S possibly damaging Het
Mboat7 T C 7: 3,683,818 Y341C probably damaging Het
Nhsl1 A T 10: 18,525,669 N881I probably damaging Het
Nox3 T C 17: 3,682,961 Y225C probably benign Het
Olfr1214 C T 2: 88,987,349 M284I probably benign Het
Olfr1260 C T 2: 89,978,507 T243I probably damaging Het
Pclo C T 5: 14,540,479 T931M unknown Het
Pfas G T 11: 68,990,467 R1025S probably benign Het
Prg4 T C 1: 150,456,086 T279A possibly damaging Het
Psma1 A T 7: 114,267,205 probably benign Het
Rab11fip1 A G 8: 27,153,121 L550P probably damaging Het
Rgs12 T A 5: 34,965,320 I149N probably damaging Het
Rmnd5a T C 6: 71,399,231 H195R probably damaging Het
Rnf17 T C 14: 56,471,373 L750P probably damaging Het
Rtcb T C 10: 85,957,656 N18D probably benign Het
Sptbn2 T C 19: 4,745,377 probably benign Het
Stag3 C T 5: 138,283,023 probably benign Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Taok3 C T 5: 117,272,229 Q829* probably null Het
Ttn A G 2: 76,951,542 probably benign Het
Unc79 A G 12: 103,125,681 E1756G probably damaging Het
Usp35 A T 7: 97,313,597 probably null Het
Zbtb40 A G 4: 136,987,278 C1067R probably damaging Het
Other mutations in Seh1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Seh1l APN 18 67787258 splice site probably benign
IGL02166:Seh1l APN 18 67785023 missense probably damaging 0.96
IGL02557:Seh1l APN 18 67789413 missense probably benign 0.15
IGL03047:Seh1l UTSW 18 67789450 missense probably damaging 1.00
R0046:Seh1l UTSW 18 67792016 critical splice donor site probably null
R1465:Seh1l UTSW 18 67783984 missense probably damaging 1.00
R1465:Seh1l UTSW 18 67783984 missense probably damaging 1.00
R1618:Seh1l UTSW 18 67788736 missense probably damaging 1.00
R2112:Seh1l UTSW 18 67787179 missense probably damaging 0.98
R3433:Seh1l UTSW 18 67793152 missense probably benign 0.08
R3780:Seh1l UTSW 18 67775017 missense probably benign 0.02
R4084:Seh1l UTSW 18 67788790 missense possibly damaging 0.50
R5326:Seh1l UTSW 18 67774999 start gained probably benign
R6518:Seh1l UTSW 18 67789449 missense probably damaging 1.00
R6945:Seh1l UTSW 18 67789390 missense probably benign 0.00
R7448:Seh1l UTSW 18 67783918 missense probably damaging 1.00
Protein Function and Prediction

Seh1l encodes SEH1L, a member of the Nup107-160 nuclear pore subcomplex that functions to bi-directionally transport macromolecules between the cytoplasm and the nucleus (1).

Expression/Localization

SEH1L is targeted to kinetochores from prophase to anaphase of mitosis (1).

References
Posted On2013-01-08
Science WriterAnne Murray