Incidental Mutation 'IGL01315:Ighe'
ID73816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighe
Ensembl Gene ENSMUSG00000087642
Gene NameImmunoglobulin heavy constant epsilon
SynonymsGm900, LOC380792
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01315
Quality Score
Status
Chromosome12
Chromosomal Location113271174-113273248 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113271352 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 396 (H396L)
Gene Model predicted gene model for transcript(s):
Predicted Effect unknown
Transcript: ENSMUST00000137336
AA Change: H396L
SMART Domains Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642
AA Change: H396L

DomainStartEndE-ValueType
IGc1 18 85 2.5e-6 SMART
IG_like 116 190 2.3e-5 SMART
IG_like 221 295 3e-4 SMART
low complexity region 310 323 N/A INTRINSIC
IGc1 325 402 7.4e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000223335
AA Change: H396L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 30,893,234 S409P probably benign Het
Ankdd1a T A 9: 65,508,702 H187L probably damaging Het
Ap2a1 A T 7: 44,916,289 D51E possibly damaging Het
Cog5 T A 12: 31,760,986 probably benign Het
Eif3h T C 15: 51,842,485 D91G probably damaging Het
Ell2 A G 13: 75,762,232 probably benign Het
Epha4 A G 1: 77,398,557 V551A probably benign Het
Gpc2 A G 5: 138,276,039 S354P probably benign Het
Gramd1a A G 7: 31,142,568 F140L probably damaging Het
Hnmt A G 2: 24,019,168 Y78H probably benign Het
Krt83 A G 15: 101,486,967 probably benign Het
Mgat5b T C 11: 116,923,389 S40P probably damaging Het
Mov10 A G 3: 104,795,945 V876A probably damaging Het
Nbeal1 T C 1: 60,281,341 V2031A probably damaging Het
Nov T C 15: 54,749,260 S222P probably damaging Het
Ntm T A 9: 29,014,184 S26C probably damaging Het
Pcsk5 G A 19: 17,451,958 T1552I probably damaging Het
Pex1 A T 5: 3,609,975 D453V probably damaging Het
Pkd2l1 C T 19: 44,192,196 D27N probably benign Het
Plppr5 G T 3: 117,662,526 C232F probably damaging Het
Slc39a2 G T 14: 51,895,136 E179* probably null Het
Slc8a3 A G 12: 81,314,395 V550A probably damaging Het
Smc5 T A 19: 23,231,604 T626S probably benign Het
Tars A C 15: 11,389,734 Y363* probably null Het
Unc79 T C 12: 103,088,521 I906T possibly damaging Het
Ush2a C T 1: 188,633,614 P2222S possibly damaging Het
Wdr31 A C 4: 62,455,837 V306G probably damaging Het
Zdhhc1 C A 8: 105,472,998 R389S probably benign Het
Other mutations in Ighe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Ighe APN 12 113271515 missense unknown
IGL01415:Ighe APN 12 113271391 missense unknown
Allegra UTSW 12 113271374 nonsense probably null
R0610:Ighe UTSW 12 113271743 missense unknown
R1540:Ighe UTSW 12 113271446 missense unknown
R1838:Ighe UTSW 12 113271850 missense unknown
R2010:Ighe UTSW 12 113271488 missense unknown
R3498:Ighe UTSW 12 113271374 nonsense probably null
R5230:Ighe UTSW 12 113271386 missense unknown
R5288:Ighe UTSW 12 113271472 missense probably benign 0.00
R6713:Ighe UTSW 12 113269288 unclassified probably benign
R7010:Ighe UTSW 12 113273141 missense
R7146:Ighe UTSW 12 113272355 missense
R7324:Ighe UTSW 12 113272334 missense
R7443:Ighe UTSW 12 113272165 nonsense probably null
R7473:Ighe UTSW 12 113271356 missense probably damaging 1.00
R7493:Ighe UTSW 12 113271403 missense
R7862:Ighe UTSW 12 113271808 missense
R7873:Ighe UTSW 12 113271322 missense
R7973:Ighe UTSW 12 113273057 missense
R8038:Ighe UTSW 12 113269433 missense
Posted On2013-10-07