Incidental Mutation 'IGL02877:Glcci1'
| ID |
362679 |
| 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: 0.076)
|
| Stock # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8509600-8597548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8582757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| 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 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
| 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 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
| 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 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
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cnot8 |
A |
G |
11: 58,002,228 (GRCm39) |
E87G |
probably benign |
Het |
| Crnkl1 |
C |
A |
2: 145,762,591 (GRCm39) |
E525* |
probably null |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,867 (GRCm39) |
I322N |
probably damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Ptx3 |
A |
G |
3: 66,132,196 (GRCm39) |
Y239C |
probably damaging |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Spem2 |
T |
G |
11: 69,708,521 (GRCm39) |
H148P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
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 |
|
IGL03291:Glcci1
|
APN |
6 |
8,579,678 (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 |
2015-12-18 |
Incidental Mutation