Incidental Mutation 'IGL02547:Itm2c'
ID297854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itm2c
Ensembl Gene ENSMUSG00000026223
Gene Nameintegral membrane protein 2C
Synonyms3110038L02Rik, Bricd2c, BRI3, ITM3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL02547
Quality Score
Status
Chromosome1
Chromosomal Location85894281-85908675 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85906461 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 166 (Y166H)
Ref Sequence ENSEMBL: ENSMUSP00000027425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027425] [ENSMUST00000185569]
Predicted Effect probably damaging
Transcript: ENSMUST00000027425
AA Change: Y166H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027425
Gene: ENSMUSG00000026223
AA Change: Y166H

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
BRICHOS 138 232 1.28e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139837
Predicted Effect probably benign
Transcript: ENSMUST00000185569
SMART Domains Protein: ENSMUSP00000140692
Gene: ENSMUSG00000026223

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
BRICHOS 138 195 9.9e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Itm2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0322:Itm2c UTSW 1 85907030 missense probably damaging 1.00
R4273:Itm2c UTSW 1 85907029 missense probably damaging 1.00
R5021:Itm2c UTSW 1 85905338 missense probably damaging 1.00
R5026:Itm2c UTSW 1 85906492 missense probably damaging 1.00
R5211:Itm2c UTSW 1 85906528 missense probably damaging 1.00
R5578:Itm2c UTSW 1 85903053 missense possibly damaging 0.63
R6137:Itm2c UTSW 1 85894692 missense probably benign 0.08
Posted On2015-04-16