Incidental Mutation 'R3780:Seh1l'
ID 334580
Institutional Source Beutler Lab
Gene Symbol Seh1l
Ensembl Gene ENSMUSG00000079614
Gene Name SEH1-like (S. cerevisiae
Synonyms 2610007A16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3780 (G1)
Quality Score 59
Status Validated
Chromosome 18
Chromosomal Location 67907946-67928557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67908087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000025421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025421]
AlphaFold Q8R2U0
Predicted Effect probably benign
Transcript: ENSMUST00000025421
AA Change: V3A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: V3A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180450
Meta Mutation Damage Score 0.0835 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,260,263 (GRCm39) noncoding transcript Het
Adam21 C T 12: 81,606,047 (GRCm39) V572I probably damaging Het
Arhgap32 T A 9: 32,063,315 (GRCm39) probably null Het
Carmil1 A T 13: 24,321,152 (GRCm39) I281N probably damaging Het
Cdh12 T A 15: 21,586,063 (GRCm39) probably null Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cntrob A G 11: 69,193,708 (GRCm39) L814P probably damaging Het
Csmd1 T C 8: 16,252,000 (GRCm39) N952S probably damaging Het
Cspg4 A G 9: 56,795,517 (GRCm39) Y1084C probably damaging Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Glis2 T C 16: 4,431,760 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,638 (GRCm39) E111G probably damaging Het
Kctd4 A G 14: 76,200,251 (GRCm39) D74G probably benign Het
Kif21b A T 1: 136,083,964 (GRCm39) K737M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama2 A T 10: 27,335,335 (GRCm39) N113K probably damaging Het
Ltv1 A G 10: 13,054,944 (GRCm39) S409P probably benign Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Myh6 A G 14: 55,201,415 (GRCm39) F95L probably benign Het
Ndufa4l2 A G 10: 127,351,289 (GRCm39) I27V probably benign Het
Npepl1 T G 2: 173,962,447 (GRCm39) L371R probably damaging Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Ocrl G A X: 47,027,180 (GRCm39) V416I probably benign Het
Or2g1 T G 17: 38,106,895 (GRCm39) C187G probably damaging Het
Padi2 C T 4: 140,645,048 (GRCm39) T94I probably benign Het
Pcca G A 14: 122,922,297 (GRCm39) E353K probably damaging Het
Pcdhgb2 T A 18: 37,824,810 (GRCm39) N600K probably damaging Het
Pex5l A G 3: 33,004,993 (GRCm39) L593P probably damaging Het
Rbp2 G A 9: 98,380,879 (GRCm39) D62N probably benign Het
Rock1 G T 18: 10,067,575 (GRCm39) N1319K probably benign Het
Ror1 A C 4: 100,269,314 (GRCm39) D384A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sacm1l A T 9: 123,381,855 (GRCm39) E152D probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Serpini1 T G 3: 75,521,942 (GRCm39) N144K probably damaging Het
Slc22a23 G A 13: 34,528,323 (GRCm39) T153I probably benign Het
Slfn8 A G 11: 82,908,280 (GRCm39) S88P probably benign Het
Stpg3 T A 2: 25,103,875 (GRCm39) M154L probably benign Het
Vmn2r115 G A 17: 23,564,146 (GRCm39) C106Y probably damaging Het
Washc3 C T 10: 88,055,122 (GRCm39) T112M probably benign Het
Zfp280d C T 9: 72,229,806 (GRCm39) T346M probably damaging Het
Other mutations in Seh1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Seh1l APN 18 67,920,328 (GRCm39) splice site probably benign
IGL02166:Seh1l APN 18 67,918,093 (GRCm39) missense probably damaging 0.96
IGL02557:Seh1l APN 18 67,922,483 (GRCm39) missense probably benign 0.15
IGL03047:Seh1l UTSW 18 67,922,520 (GRCm39) missense probably damaging 1.00
R0046:Seh1l UTSW 18 67,925,086 (GRCm39) critical splice donor site probably null
R0046:Seh1l UTSW 18 67,925,086 (GRCm39) critical splice donor site probably null
R1465:Seh1l UTSW 18 67,917,054 (GRCm39) missense probably damaging 1.00
R1465:Seh1l UTSW 18 67,917,054 (GRCm39) missense probably damaging 1.00
R1618:Seh1l UTSW 18 67,921,806 (GRCm39) missense probably damaging 1.00
R2112:Seh1l UTSW 18 67,920,249 (GRCm39) missense probably damaging 0.98
R3433:Seh1l UTSW 18 67,926,222 (GRCm39) missense probably benign 0.08
R4084:Seh1l UTSW 18 67,921,860 (GRCm39) missense possibly damaging 0.50
R5326:Seh1l UTSW 18 67,908,069 (GRCm39) start gained probably benign
R6518:Seh1l UTSW 18 67,922,519 (GRCm39) missense probably damaging 1.00
R6945:Seh1l UTSW 18 67,922,460 (GRCm39) missense probably benign 0.00
R7448:Seh1l UTSW 18 67,916,988 (GRCm39) missense probably damaging 1.00
R7582:Seh1l UTSW 18 67,908,188 (GRCm39) nonsense probably null
R8383:Seh1l UTSW 18 67,908,126 (GRCm39) missense possibly damaging 0.95
R8930:Seh1l UTSW 18 67,908,134 (GRCm39) missense possibly damaging 0.88
R8932:Seh1l UTSW 18 67,908,134 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GATCACGTGTTTTCGGAGGC -3'
(R):5'- TGACTGGCGTGTATTAGCCC -3'

Sequencing Primer
(F):5'- TGTTTTCGGAGGCGCACAC -3'
(R):5'- ACTGGCGTGTATTAGCCCTTCAG -3'
Posted On 2015-09-14