Incidental Mutation 'RF048:Gar1'
| ID |
605072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gar1
|
| Ensembl Gene |
ENSMUSG00000028010 |
| Gene Name |
GAR1 ribonucleoprotein |
| Synonyms |
GAR1, Nola1, C430047J18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
RF048 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129618561-129625045 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CGCCGCCG to C
at 129624349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029643]
[ENSMUST00000134174]
[ENSMUST00000149071]
|
| AlphaFold |
Q9CY66 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029643
|
| SMART Domains |
Protein: ENSMUSP00000029643
Gene: ENSMUSG00000028010
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gar1
|
63 |
180 |
2.6e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134174
|
| SMART Domains |
Protein: ENSMUSP00000115191
Gene: ENSMUSG00000028010
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gar1
|
1 |
79 |
2.6e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149071
|
| SMART Domains |
Protein: ENSMUSP00000118752
Gene: ENSMUSG00000028010
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gar1
|
57 |
198 |
1.6e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
GAGCTGA |
G |
4: 63,296,078 (GRCm39) |
|
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,634,378 (GRCm39) |
P326T |
probably benign |
Het |
| Chga |
GCA |
GCACCA |
12: 102,527,662 (GRCm39) |
|
probably benign |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
AACCCC |
AACCCCCACCCC |
11: 101,080,389 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CATC |
CATCATC |
2: 130,612,654 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGGGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Gm15155 |
AA |
AACAACAAA |
X: 155,128,637 (GRCm39) |
|
probably null |
Het |
| Irag2 |
GCACATTG |
GCACATTGAACACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGTA |
X: 70,162,458 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
CTGTTG |
CTG |
2: 155,263,632 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCAGCTGG |
CCTCAGCTGGAGACTTGGGCTCAGCTGG |
11: 4,891,003 (GRCm39) |
|
probably benign |
Het |
| Nefh |
AGCTGGGGAC |
AGCTGGGGACCTGGCCTCAGCTGGGGAC |
11: 4,891,007 (GRCm39) |
|
probably benign |
Het |
| Nphs2 |
GCCACC |
GCCACCCGAGGGGAGCCCCGAGCTCCAGCCTCCACC |
1: 156,138,541 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
T |
TTTTTTG |
15: 8,148,660 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCAAGCTGAGA |
AGCAAGCTGAGATACACGTTAGCATTGAGGCGCAAGCTGAGA |
2: 119,458,080 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
TGTTTT |
TGTTTTGTTTTGGTTTT |
4: 134,006,683 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CCACCACCACCAC |
CCACCACCACCACCCCCACCCACACCACCACCAC |
17: 37,275,951 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
CTCTCTC |
CTCTCTCTCTCTCTATCTCTC |
12: 26,364,010 (GRCm39) |
|
probably benign |
Het |
| Sbp |
G |
GCTGACAACAAAGATT |
17: 24,164,363 (GRCm39) |
|
probably benign |
Het |
| Strn |
TC |
TCCGTGCTCCCTTACCCCAGTGCGTGCGCCCTTACCCCAGAC |
17: 78,984,716 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Gar1
|
UTSW |
3 |
129,624,353 (GRCm39) |
small deletion |
probably benign |
|
|
R0147:Gar1
|
UTSW |
3 |
129,623,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Gar1
|
UTSW |
3 |
129,623,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Gar1
|
UTSW |
3 |
129,624,253 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4222:Gar1
|
UTSW |
3 |
129,624,455 (GRCm39) |
unclassified |
probably benign |
|
|
R6125:Gar1
|
UTSW |
3 |
129,624,399 (GRCm39) |
unclassified |
probably benign |
|
|
R6849:Gar1
|
UTSW |
3 |
129,623,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Gar1
|
UTSW |
3 |
129,623,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Gar1
|
UTSW |
3 |
129,620,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Gar1
|
UTSW |
3 |
129,624,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9720:Gar1
|
UTSW |
3 |
129,620,497 (GRCm39) |
missense |
unknown |
|
|
RF043:Gar1
|
UTSW |
3 |
129,624,337 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCGGAGTCTTATCAACAAACG -3'
(R):5'- GATAAATGATCGACCCGCGG -3'
Sequencing Primer
(F):5'- CGCACTAATAACTTAAACCGGATTC -3'
(R):5'- ATCGACCCGCGGTGACC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation