Incidental Mutation 'R3498:Ighe'
ID273678
Institutional Source Beutler Lab
Gene Symbol Ighe
Ensembl Gene ENSMUSG00000087642
Gene NameImmunoglobulin heavy constant epsilon
SynonymsGm900, LOC380792
MMRRC Submission 040661-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R3498 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location113271174-113273248 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 113271374 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 389 (Q389*)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably null
Transcript: ENSMUST00000137336
AA Change: Q389*
SMART Domains Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642
AA Change: Q389*

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 probably null
Transcript: ENSMUST00000223335
AA Change: Q389*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik AC A 17: 47,433,423 probably benign Het
A3galt2 T C 4: 128,755,557 F6L probably benign Het
Aurkc A G 7: 7,000,030 I175V probably damaging Het
Azi2 A G 9: 118,049,407 D105G probably damaging Het
Bcat1 A G 6: 145,019,342 V45A probably damaging Het
Cass4 C T 2: 172,432,558 P753L probably damaging Het
Ddx42 A G 11: 106,231,193 E178G possibly damaging Het
Dmpk T C 7: 19,086,381 I101T probably damaging Het
Dnah17 C T 11: 118,080,849 probably benign Het
Fosb C T 7: 19,306,632 R161H probably damaging Het
Gm6729 T C 10: 86,540,718 noncoding transcript Het
Gnb1 T A 4: 155,555,026 N237K possibly damaging Het
Gpr35 A G 1: 92,983,391 Y275C probably damaging Het
Hmcn1 A T 1: 150,605,102 I4441N probably damaging Het
Kcnj11 T C 7: 46,099,602 D23G probably damaging Het
Lats2 G T 14: 57,722,466 A191E possibly damaging Het
Lyplal1 A G 1: 186,088,660 S197P possibly damaging Het
Map4 G T 9: 110,035,212 V502L probably benign Het
Mgat5 A G 1: 127,384,834 M237V possibly damaging Het
Mindy4 A G 6: 55,216,525 R68G probably benign Het
Nell1 T A 7: 50,258,179 V362E possibly damaging Het
Olfr1031 T A 2: 85,992,430 F204L probably benign Het
Olfr792 T A 10: 129,540,909 I124N probably damaging Het
P4ha2 T C 11: 54,119,253 Y279H probably benign Het
Pcid2 A G 8: 13,100,413 V13A possibly damaging Het
Polr2j T C 5: 136,122,770 I116T probably benign Het
Prdm9 A G 17: 15,562,945 probably benign Het
Prr5 T A 15: 84,703,144 V365E probably benign Het
Ptprf A T 4: 118,224,930 I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,219,203 probably benign Het
Sde2 T A 1: 180,858,185 C101S probably damaging Het
Sec1 T C 7: 45,679,239 H128R probably damaging Het
Serpinb6a A T 13: 33,918,781 M253K probably damaging Het
Slc1a4 A T 11: 20,313,973 I248N probably damaging Het
Slc22a4 T G 11: 53,992,053 K328N probably benign Het
Slc24a4 A T 12: 102,234,692 K278N probably benign Het
Slc6a21 T A 7: 45,280,842 W222R probably damaging Het
Slc7a2 A G 8: 40,912,530 E466G probably benign Het
Sspo A G 6: 48,467,980 T2133A possibly damaging Het
Taco1 A G 11: 106,072,538 M172V probably benign Het
Tmem127 T A 2: 127,256,120 H36Q probably benign Het
Tmem229b-ps C T 10: 53,475,127 noncoding transcript Het
Vac14 A G 8: 110,671,090 D479G probably benign Het
Vmn1r176 T A 7: 23,835,242 K162I probably benign Het
Other mutations in Ighe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Ighe APN 12 113271515 missense unknown
IGL01315:Ighe APN 12 113271352 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
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
R8508:Ighe UTSW 12 113271793 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTTCCTGGTGTTACAACAGTG -3'
(R):5'- GGTATATGTGTTCCCACCACCAG -3'

Sequencing Primer
(F):5'- TACAACAGTGAGCGGATGTCTGTC -3'
(R):5'- TGTTCCCACCACCAGAGGAG -3'
Posted On2015-04-02