Incidental Mutation 'IGL02349:Glcci1'
ID289436
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: 0.077) question?
Stock #IGL02349
Quality Score
Status
Chromosome6
Chromosomal Location8509600-8597548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8558581 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 35 (K35E)
Ref Sequence ENSEMBL: ENSMUSP00000125079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064285] [ENSMUST00000161217] [ENSMUST00000161494] [ENSMUST00000162383] [ENSMUST00000162564] [ENSMUST00000162567]
Predicted Effect probably damaging
Transcript: ENSMUST00000064285
AA Change: K223E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: K223E

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 damaging
Transcript: ENSMUST00000161217
AA Change: K35E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: K35E

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 damaging
Transcript: ENSMUST00000161494
AA Change: K35E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: K35E

DomainStartEndE-ValueType
Pfam:FAM117 1 237 1e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162383
AA Change: K35E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125260
Gene: ENSMUSG00000029638
AA Change: K35E

DomainStartEndE-ValueType
Pfam:FAM117 1 94 3.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162564
Predicted Effect probably damaging
Transcript: ENSMUST00000162567
AA Change: K35E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: K35E

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Glcci1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Glcci1 APN 6 8579596 missense probably damaging 0.99
IGL02877:Glcci1 APN 6 8582757 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 On2015-04-16