Incidental Mutation 'R4170:Get1'
| ID |
320757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Get1
|
| Ensembl Gene |
ENSMUSG00000023147 |
| Gene Name |
guided entry of tail-anchored proteins factor 1 |
| Synonyms |
Chd5, C030018G21Rik, Wrb, 5530402J05Rik |
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
95946607-95959052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95954176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 92
(A92T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023913]
|
| AlphaFold |
Q8K0D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023913
AA Change: A92T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147
AA Change: A92T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHD5
|
12 |
163 |
1.4e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140476
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Get1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0413:Get1
|
UTSW |
16 |
95,954,217 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0740:Get1
|
UTSW |
16 |
95,946,798 (GRCm39) |
intron |
probably benign |
|
|
R4028:Get1
|
UTSW |
16 |
95,946,784 (GRCm39) |
splice site |
probably null |
|
|
R4508:Get1
|
UTSW |
16 |
95,946,899 (GRCm39) |
intron |
probably benign |
|
|
R6021:Get1
|
UTSW |
16 |
95,946,878 (GRCm39) |
intron |
probably benign |
|
|
R7191:Get1
|
UTSW |
16 |
95,953,145 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7886:Get1
|
UTSW |
16 |
95,946,768 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9095:Get1
|
UTSW |
16 |
95,954,244 (GRCm39) |
splice site |
probably benign |
|
|
R9161:Get1
|
UTSW |
16 |
95,953,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9188:Get1
|
UTSW |
16 |
95,955,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Get1
|
UTSW |
16 |
95,955,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACTTGAAATTTCGTAAATTGGC -3'
(R):5'- ACAAGATGGCTGGCTCTGC -3'
Sequencing Primer
(F):5'- TGGCAACAGAGTAAGAGATTTATTAC -3'
(R):5'- CAATTGTCAAGTCGGTGCAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation