Incidental Mutation 'IGL03291:Glcci1'
| ID |
415914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glcci1
|
| Ensembl Gene |
ENSMUSG00000029638 |
| Gene Name |
glucocorticoid induced transcript 1 |
| Synonyms |
A130036A18Rik, Tssn1, GIG18, Fam117c, 2310047L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8509600-8597548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8579678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 293
(I293K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064285]
[ENSMUST00000161217]
[ENSMUST00000161494]
[ENSMUST00000162383]
[ENSMUST00000162564]
[ENSMUST00000162567]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064285
AA Change: I293K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: I293K
| Domain | Start | End | E-Value | Type |
|---|
|
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: I105K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: I105K
| Domain | Start | End | E-Value | Type |
|---|
|
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: I106K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: I106K
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM117
|
1 |
94 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162564
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162567
AA Change: I106K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: I106K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,610,081 (GRCm39) |
V364A |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,909,662 (GRCm39) |
I378V |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,328 (GRCm39) |
|
probably benign |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Megf9 |
C |
T |
4: 70,406,387 (GRCm39) |
V260I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,923 (GRCm39) |
F254L |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
probably damaging |
Het |
|
| Other mutations in Glcci1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Glcci1
|
APN |
6 |
8,579,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02349:Glcci1
|
APN |
6 |
8,558,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02877:Glcci1
|
APN |
6 |
8,582,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1084:Glcci1
|
UTSW |
6 |
8,573,221 (GRCm39) |
nonsense |
probably null |
|
|
R1289:Glcci1
|
UTSW |
6 |
8,593,088 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1466:Glcci1
|
UTSW |
6 |
8,537,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Glcci1
|
UTSW |
6 |
8,537,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Glcci1
|
UTSW |
6 |
8,591,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Glcci1
|
UTSW |
6 |
8,537,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Glcci1
|
UTSW |
6 |
8,537,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1982:Glcci1
|
UTSW |
6 |
8,592,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Glcci1
|
UTSW |
6 |
8,582,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Glcci1
|
UTSW |
6 |
8,558,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Glcci1
|
UTSW |
6 |
8,582,601 (GRCm39) |
nonsense |
probably null |
|
|
R5166:Glcci1
|
UTSW |
6 |
8,537,854 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5390:Glcci1
|
UTSW |
6 |
8,537,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6351:Glcci1
|
UTSW |
6 |
8,573,203 (GRCm39) |
nonsense |
probably null |
|
|
R7985:Glcci1
|
UTSW |
6 |
8,573,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8171:Glcci1
|
UTSW |
6 |
8,593,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8292:Glcci1
|
UTSW |
6 |
8,558,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Glcci1
|
UTSW |
6 |
8,537,826 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9745:Glcci1
|
UTSW |
6 |
8,573,278 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0065:Glcci1
|
UTSW |
6 |
8,591,636 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Glcci1
|
UTSW |
6 |
8,582,674 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2016-08-02 |
Incidental Mutation