Incidental Mutation 'IGL02557:Seh1l'
ID298336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Seh1l
Ensembl Gene ENSMUSG00000079614
Gene NameSEH1-like (S. cerevisiae
Synonyms2610007A16Rik
Accession Numbers

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

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02557
Quality Score
Status
Chromosome18
Chromosomal Location67774876-67795461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67789413 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 279 (S279P)
Ref Sequence ENSEMBL: ENSMUSP00000025421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025421]
Predicted Effect probably benign
Transcript: ENSMUST00000025421
AA Change: S279P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: S279P

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,742,707 P222L probably benign Het
AI464131 C T 4: 41,497,900 V577M possibly damaging Het
Alg12 T A 15: 88,816,207 K9* probably null Het
Arhgap20 T C 9: 51,821,273 V119A probably damaging Het
Arhgap45 T C 10: 80,021,638 Y178H probably damaging Het
Atad2 A T 15: 58,122,597 S243T probably benign Het
Atp13a5 A C 16: 29,248,182 F1013V probably benign Het
Atp1a2 T G 1: 172,278,651 T865P possibly damaging Het
Bcas2 T C 3: 103,171,867 probably benign Het
Ccnk T C 12: 108,195,726 S297P unknown Het
Cdk5 A T 5: 24,419,653 S215T probably benign Het
Ciita T A 16: 10,512,015 L798Q probably damaging Het
Clcn2 A G 16: 20,708,464 S584P probably damaging Het
Cntn6 A G 6: 104,774,535 Y384C probably damaging Het
Cyp2b10 T A 7: 25,914,881 V260D probably benign Het
Dsel A T 1: 111,862,570 H78Q probably damaging Het
Eml3 T C 19: 8,931,381 probably benign Het
Fcgr2b C A 1: 170,963,322 probably null Het
Fryl A T 5: 73,098,393 L765Q probably damaging Het
Gas2 T A 7: 51,887,933 M2K probably damaging Het
Gm13941 T C 2: 111,101,156 K44E unknown Het
Gm42878 A G 5: 121,527,131 S205P possibly damaging Het
Hcn3 A T 3: 89,149,871 S473R probably damaging Het
Hnrnpr A G 4: 136,319,506 E65G probably damaging Het
Ints1 A T 5: 139,771,637 V375E probably damaging Het
Lama5 A T 2: 180,190,932 C1642* probably null Het
Lsr T G 7: 30,958,494 E347A possibly damaging Het
Mapre2 C A 18: 23,832,957 T33K probably damaging Het
Myo3b T A 2: 70,255,319 F772I probably benign Het
Nbas T C 12: 13,361,028 V891A probably damaging Het
Neurl4 A T 11: 69,906,335 I583F probably damaging Het
Nsd1 T C 13: 55,312,448 S2163P probably damaging Het
Nup210l T C 3: 90,124,230 Y288H probably damaging Het
Olfr1212 A G 2: 88,958,681 I72V probably benign Het
Olfr1329 T C 4: 118,917,192 T92A probably benign Het
Pak1 A G 7: 97,871,587 E151G probably benign Het
Phtf1 A G 3: 103,998,765 N588D probably damaging Het
Prom2 T C 2: 127,529,471 T756A possibly damaging Het
Ptgfrn C T 3: 101,060,636 probably null Het
Sema3f A T 9: 107,687,212 M35K probably damaging Het
Spesp1 T C 9: 62,273,134 E164G possibly damaging Het
Sprr3 T C 3: 92,457,166 T124A possibly damaging Het
Trim24 A C 6: 37,965,499 probably null Het
Unc79 A G 12: 103,182,159 probably benign Het
Vmn2r77 T A 7: 86,795,134 probably benign 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
IGL03047:Seh1l UTSW 18 67789450 missense probably damaging 1.00
R0046:Seh1l UTSW 18 67792016 critical splice donor site probably null
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
R7582:Seh1l UTSW 18 67775118 nonsense probably null
Posted On2015-04-16