Incidental Mutation 'IGL02877:Glcci1'
ID362679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glcci1
Ensembl Gene ENSMUSG00000029638
Gene Nameglucocorticoid induced transcript 1
SynonymsFam117c, GIG18, Tssn1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02877
Quality Score
Status
Chromosome6
Chromosomal Location8509600-8597548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8582757 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 373 (S373P)
Ref Sequence ENSEMBL: ENSMUSP00000069444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064285] [ENSMUST00000161217] [ENSMUST00000161494] [ENSMUST00000162383] [ENSMUST00000162564] [ENSMUST00000162567]
Predicted Effect probably damaging
Transcript: ENSMUST00000064285
AA Change: S373P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: S373P

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 69 110 N/A INTRINSIC
low complexity region 118 141 N/A INTRINSIC
Pfam:FAM117 159 468 1.7e-132 PFAM
low complexity region 493 506 N/A INTRINSIC
low complexity region 512 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161217
AA Change: S185P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: S185P

DomainStartEndE-ValueType
Pfam:FAM117 1 284 3.2e-104 PFAM
low complexity region 305 318 N/A INTRINSIC
low complexity region 324 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161494
AA Change: S186P

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: S186P

DomainStartEndE-ValueType
Pfam:FAM117 1 237 1e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162206
Predicted Effect probably benign
Transcript: ENSMUST00000162383
SMART Domains Protein: ENSMUSP00000125260
Gene: ENSMUSG00000029638

DomainStartEndE-ValueType
Pfam:FAM117 1 94 3.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162564
Predicted Effect probably benign
Transcript: ENSMUST00000162567
AA Change: S186P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: S186P

DomainStartEndE-ValueType
Pfam:FAM117 1 285 2.7e-100 PFAM
low complexity region 306 319 N/A INTRINSIC
low complexity region 325 338 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.] This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,078,876 Y712* probably null Het
Adcy5 A G 16: 35,298,600 D1107G probably damaging Het
Ankhd1 C A 18: 36,594,823 T504K probably damaging Het
Asb18 C T 1: 89,952,811 C160Y possibly damaging Het
Capn13 A G 17: 73,322,055 S586P probably damaging Het
Cdhr2 A T 13: 54,734,737 T1199S probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cnot8 A G 11: 58,111,402 E87G probably benign Het
Crnkl1 C A 2: 145,920,671 E525* probably null Het
Eif2d T C 1: 131,165,117 probably benign Het
Flywch1 A G 17: 23,760,414 S416P probably damaging Het
Gli3 A G 13: 15,724,742 R905G probably damaging Het
Hcn4 T C 9: 58,859,167 V706A unknown Het
Ift74 T C 4: 94,624,781 probably null Het
Ighv8-6 A T 12: 115,166,080 S19T probably damaging Het
Knl1 T A 2: 119,088,831 N1821K probably benign Het
Msx1 G A 5: 37,824,000 P112S possibly damaging Het
Nes A G 3: 87,975,661 D409G probably benign Het
Nsmf A T 2: 25,055,956 I152F possibly damaging Het
Nt5c1a T A 4: 123,216,074 I322N probably damaging Het
Olfr845 T C 9: 19,339,201 V247A possibly damaging Het
Pnpla8 A G 12: 44,283,465 T49A probably benign Het
Ptx3 A G 3: 66,224,775 Y239C probably damaging Het
Rarg G T 15: 102,241,939 probably null Het
Slc33a1 G A 3: 63,943,385 T506I probably benign Het
Spem2 T G 11: 69,817,695 H148P probably benign Het
Trim24 A G 6: 37,965,646 D961G probably damaging Het
Vmn2r14 G A 5: 109,220,188 H313Y probably damaging Het
Other mutations in Glcci1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Glcci1 APN 6 8579596 missense probably damaging 0.99
IGL02349:Glcci1 APN 6 8558581 missense probably damaging 1.00
IGL03291:Glcci1 APN 6 8579678 missense probably damaging 1.00
R1084:Glcci1 UTSW 6 8573221 nonsense probably null
R1289:Glcci1 UTSW 6 8593088 missense possibly damaging 0.70
R1466:Glcci1 UTSW 6 8537964 missense probably damaging 1.00
R1466:Glcci1 UTSW 6 8537964 missense probably damaging 1.00
R1539:Glcci1 UTSW 6 8591620 missense probably damaging 1.00
R1584:Glcci1 UTSW 6 8537964 missense probably damaging 1.00
R1873:Glcci1 UTSW 6 8537837 missense probably benign 0.06
R1982:Glcci1 UTSW 6 8592980 missense probably damaging 1.00
R2043:Glcci1 UTSW 6 8582590 missense probably damaging 1.00
R2070:Glcci1 UTSW 6 8558566 missense probably damaging 1.00
R4834:Glcci1 UTSW 6 8582601 nonsense probably null
R5166:Glcci1 UTSW 6 8537854 missense probably benign 0.23
R5390:Glcci1 UTSW 6 8537835 missense probably benign 0.01
R6351:Glcci1 UTSW 6 8573203 nonsense probably null
X0065:Glcci1 UTSW 6 8591636 nonsense probably null
Posted On2015-12-18