Incidental Mutation 'IGL02061:Seh1l'
ID 185426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Seh1l
Ensembl Gene ENSMUSG00000079614
Gene Name SEH1-like (S. cerevisiae
Synonyms 2610007A16Rik
Accession Numbers

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

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02061
Quality Score
Status
Chromosome 18
Chromosomal Location 67774876-67795461 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 67787258 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025421]
AlphaFold Q8R2U0
Predicted Effect probably benign
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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Seh1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R8383:Seh1l UTSW 18 67775056 missense possibly damaging 0.95
R8930:Seh1l UTSW 18 67775064 missense possibly damaging 0.88
R8932:Seh1l UTSW 18 67775064 missense possibly damaging 0.88
Posted On 2014-05-07