Incidental Mutation 'R2112:Seh1l'
ID 232708
Institutional Source Beutler Lab
Gene Symbol Seh1l
Ensembl Gene ENSMUSG00000079614
Gene Name SEH1-like (S. cerevisiae
Synonyms 2610007A16Rik
MMRRC Submission 040116-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2112 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 67907946-67928557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67920249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 182 (I182T)
Ref Sequence ENSEMBL: ENSMUSP00000025421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025421]
AlphaFold Q8R2U0
Predicted Effect probably damaging
Transcript: ENSMUST00000025421
AA Change: I182T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: I182T

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Adprhl1 A G 8: 13,298,694 (GRCm39) Y79H probably damaging Het
Ambra1 T A 2: 91,706,132 (GRCm39) W746R probably damaging Het
Ankhd1 A T 18: 36,774,679 (GRCm39) K1420I probably damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Arhgap24 A C 5: 103,040,366 (GRCm39) R434S probably damaging Het
Arhgap29 T C 3: 121,805,210 (GRCm39) L525P probably benign Het
Arpc1b T C 5: 145,060,579 (GRCm39) Y124H probably damaging Het
Arr3 T A X: 99,658,247 (GRCm39) F269L possibly damaging Het
Atp11b G T 3: 35,891,677 (GRCm39) V830F probably damaging Het
Ccdc71l T A 12: 32,429,229 (GRCm39) F83I probably damaging Het
Cdh23 G T 10: 60,141,362 (GRCm39) F3127L probably damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cldn15 T A 5: 136,997,016 (GRCm39) M19K possibly damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col12a1 A G 9: 79,551,181 (GRCm39) V2145A possibly damaging Het
Col5a3 T C 9: 20,721,073 (GRCm39) I110V unknown Het
Cps1 T A 1: 67,216,139 (GRCm39) D821E probably benign Het
Crnkl1 A T 2: 145,772,617 (GRCm39) Y153* probably null Het
Dock10 T A 1: 80,483,359 (GRCm39) K2082M probably damaging Het
Dock10 T C 1: 80,483,360 (GRCm39) K2083E probably damaging Het
Dst T C 1: 34,208,259 (GRCm39) S737P probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Etf1 A T 18: 35,042,154 (GRCm39) probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galt A G 4: 41,758,245 (GRCm39) T337A probably benign Het
Gbp4 A G 5: 105,283,042 (GRCm39) L76P possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gigyf2 A G 1: 87,368,452 (GRCm39) H1044R probably damaging Het
Glg1 T C 8: 111,919,178 (GRCm39) D315G probably damaging Het
Gm4787 C T 12: 81,424,607 (GRCm39) C517Y probably damaging Het
Gnl3l A G X: 149,780,290 (GRCm39) S217P probably damaging Het
Gpr37 T C 6: 25,669,380 (GRCm39) Y488C possibly damaging Het
Hap1 T C 11: 100,244,825 (GRCm39) D240G probably benign Het
Hhla1 C G 15: 65,808,232 (GRCm39) W271S probably benign Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Inpp5a A G 7: 139,154,877 (GRCm39) D332G probably damaging Het
Insr A G 8: 3,219,748 (GRCm39) S925P probably benign Het
Isoc2b T A 7: 4,852,474 (GRCm39) D171V probably damaging Het
Kif20b T C 19: 34,909,132 (GRCm39) I223T probably benign Het
Krt6b T C 15: 101,586,999 (GRCm39) T258A possibly damaging Het
Lipo4 G A 19: 33,488,926 (GRCm39) P219L probably benign Het
Luc7l T C 17: 26,474,101 (GRCm39) probably null Het
Madd T C 2: 91,007,321 (GRCm39) K264E possibly damaging Het
Mcf2l A T 8: 13,051,867 (GRCm39) K433N probably damaging Het
Mob3b A T 4: 35,083,795 (GRCm39) N131K probably damaging Het
Mtus1 G T 8: 41,475,608 (GRCm39) P819T probably damaging Het
Myo15a T C 11: 60,384,994 (GRCm39) F1699L probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Neb G C 2: 52,218,776 (GRCm39) T78S probably damaging Het
Nek2 T C 1: 191,559,320 (GRCm39) V275A probably benign Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nos1 T C 5: 118,074,636 (GRCm39) V1060A probably benign Het
Notch3 T A 17: 32,363,584 (GRCm39) I1160F probably benign Het
Nox4 T C 7: 87,021,216 (GRCm39) L476P probably damaging Het
Npc1 A T 18: 12,346,529 (GRCm39) N222K possibly damaging Het
Nrn1l C A 8: 106,621,378 (GRCm39) H109Q possibly damaging Het
Or4c11 T C 2: 88,695,545 (GRCm39) S199P possibly damaging Het
Or4k15 G T 14: 50,364,080 (GRCm39) L15F probably damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or7a41 T C 10: 78,871,248 (GRCm39) L206P probably damaging Het
Or8g27 T C 9: 39,129,075 (GRCm39) Y141H probably benign Het
Or8g33 C A 9: 39,337,966 (GRCm39) V134L probably benign Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Plch1 T A 3: 63,630,227 (GRCm39) T514S probably damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Ppig A G 2: 69,580,451 (GRCm39) T662A unknown Het
Prdm2 A C 4: 142,858,506 (GRCm39) S1595A probably benign Het
Ptpn5 T A 7: 46,732,890 (GRCm39) T318S probably benign Het
Ralgps2 A G 1: 156,660,278 (GRCm39) Y265H probably damaging Het
Slc12a6 T C 2: 112,186,830 (GRCm39) I943T probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Sphkap T G 1: 83,253,602 (GRCm39) K1382N probably benign Het
Sybu T C 15: 44,536,731 (GRCm39) S532G probably benign Het
Syde2 G A 3: 145,704,241 (GRCm39) G131S possibly damaging Het
Taok1 C T 11: 77,462,472 (GRCm39) V206I probably benign Het
Tas1r2 G T 4: 139,382,666 (GRCm39) M101I probably benign Het
Trpc6 C T 9: 8,656,613 (GRCm39) T680I probably damaging Het
Trub1 T C 19: 57,473,646 (GRCm39) probably null Het
Tspan1 G T 4: 116,020,885 (GRCm39) probably null Het
Ttc28 G A 5: 111,424,139 (GRCm39) E1438K probably damaging Het
Ubr3 A G 2: 69,808,136 (GRCm39) T1206A possibly damaging Het
Ulbp3 C T 10: 3,076,459 (GRCm39) noncoding transcript Het
Usp40 A G 1: 87,877,936 (GRCm39) I1117T probably benign Het
Usp43 G T 11: 67,812,536 (GRCm39) N113K probably damaging Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r202 T A 13: 22,685,904 (GRCm39) Y171F possibly damaging Het
Zfp142 A G 1: 74,612,795 (GRCm39) S451P probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably damaging Het
Zfp954 A G 7: 7,118,609 (GRCm39) C312R probably damaging Het
Zmym3 A T X: 100,450,993 (GRCm39) V1208D 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
R3433:Seh1l UTSW 18 67,926,222 (GRCm39) missense probably benign 0.08
R3780:Seh1l UTSW 18 67,908,087 (GRCm39) missense probably benign 0.02
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'- CTTGAGAAGCAGTCGTGAGG -3'
(R):5'- GAATCTCTCAGGAAACAGTGAATCAG -3'

Sequencing Primer
(F):5'- GTGCTCACACAAACATGTAGTG -3'
(R):5'- TGAATCAGGTAACAGTGAATCCC -3'
Posted On 2014-09-18