Incidental Mutation 'R1084:Glcci1'
| ID |
84952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glcci1
|
| Ensembl Gene |
ENSMUSG00000029638 |
| Gene Name |
glucocorticoid induced transcript 1 |
| Synonyms |
A130036A18Rik, Tssn1, GIG18, Fam117c, 2310047L21Rik |
| MMRRC Submission |
039170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8509600-8597548 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 8573221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 50
(Q50*)
|
| 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 null
Transcript: ENSMUST00000064285
AA Change: Q237*
|
| SMART Domains |
Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: Q237*
| 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 null
Transcript: ENSMUST00000161217
AA Change: Q49*
|
| SMART Domains |
Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: Q49*
| 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 null
Transcript: ENSMUST00000161494
AA Change: Q50*
|
| SMART Domains |
Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: Q50*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM117
|
1 |
237 |
1e-83 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162383
AA Change: Q49*
|
| SMART Domains |
Protein: ENSMUSP00000125260
Gene: ENSMUSG00000029638
AA Change: Q49*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM117
|
1 |
94 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162564
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162567
AA Change: Q50*
|
| SMART Domains |
Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: Q50*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
| Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
| Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
| Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
| Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
| Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
| Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
| Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
| Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
| Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
| Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
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 |
|
IGL03291:Glcci1
|
APN |
6 |
8,579,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTACCACACCATATAAAGTTGCAGA -3'
(R):5'- GGTGACACTCAGAGGGAGGCTC -3'
Sequencing Primer
(F):5'- GCAGAAATGAAGCATTTGTTCC -3'
(R):5'- gagaagggaaagggagaatgg -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation