Incidental Mutation 'IGL02349:Glcci1'
| ID |
289436 |
| 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 # |
IGL02349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8509600-8597548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8558581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| 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: K35E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: K35E
| 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: K35E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: K35E
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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: K35E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: K35E
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,462 (GRCm39) |
I484V |
probably benign |
Het |
| Acly |
C |
T |
11: 100,410,505 (GRCm39) |
E158K |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,837,226 (GRCm39) |
D3E |
probably benign |
Het |
| Alg8 |
A |
G |
7: 97,029,101 (GRCm39) |
N152S |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,319,212 (GRCm39) |
T323A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,744,989 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,538,842 (GRCm39) |
K159* |
probably null |
Het |
| Capns2 |
T |
A |
8: 93,628,690 (GRCm39) |
V193D |
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,889,044 (GRCm39) |
I48T |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,876 (GRCm39) |
S555P |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,683,657 (GRCm39) |
E1533G |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,655,936 (GRCm39) |
L451P |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,170 (GRCm39) |
E407G |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,844,336 (GRCm39) |
Y50H |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,049 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,530 (GRCm39) |
I42F |
probably benign |
Het |
| Gpatch1 |
T |
A |
7: 35,006,680 (GRCm39) |
M163L |
probably damaging |
Het |
| Gpr132 |
T |
C |
12: 112,816,475 (GRCm39) |
Y117C |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,754,223 (GRCm39) |
P650S |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,352,189 (GRCm39) |
D464G |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,427,327 (GRCm39) |
G185C |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
| Macir |
A |
G |
1: 97,573,777 (GRCm39) |
L96P |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,506 (GRCm39) |
D615V |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,352,901 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
C |
3: 88,818,205 (GRCm39) |
S360R |
possibly damaging |
Het |
| Myo15b |
C |
A |
11: 115,753,931 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,151 (GRCm39) |
V428A |
possibly damaging |
Het |
| Or13a28 |
T |
C |
7: 140,218,384 (GRCm39) |
F257L |
probably benign |
Het |
| Or1j19 |
A |
C |
2: 36,677,058 (GRCm39) |
T174P |
possibly damaging |
Het |
| Or51a39 |
G |
A |
7: 102,363,333 (GRCm39) |
R96C |
probably damaging |
Het |
| Or51f2 |
A |
T |
7: 102,527,116 (GRCm39) |
Y263F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,812 (GRCm39) |
S43P |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,502 (GRCm39) |
M24K |
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,741,192 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
T |
12: 76,609,074 (GRCm39) |
N149I |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,676 (GRCm39) |
H541Q |
probably damaging |
Het |
| Rgp1 |
T |
C |
4: 43,581,236 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
A |
T |
10: 89,493,800 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,193,010 (GRCm39) |
H250P |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,268 (GRCm39) |
V189A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,029,555 (GRCm39) |
S1875L |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,944 (GRCm39) |
L60H |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,667,898 (GRCm39) |
D217G |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,724 (GRCm39) |
L638P |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,774,401 (GRCm39) |
N148S |
possibly damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,266,467 (GRCm39) |
Q241* |
probably null |
Het |
| Zfp990 |
A |
G |
4: 145,257,447 (GRCm39) |
|
probably benign |
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 |
|
IGL02877:Glcci1
|
APN |
6 |
8,582,757 (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 |
2015-04-16 |
Incidental Mutation