Incidental Mutation 'R0971:Glyr1'
| ID |
81517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyr1
|
| Ensembl Gene |
ENSMUSG00000022536 |
| Gene Name |
glyoxylate reductase 1 homolog (Arabidopsis) |
| Synonyms |
NDF, 2810419J22Rik, 3930401K13Rik, Npac |
| MMRRC Submission |
039100-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R0971 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4831773-4867727 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCTGCC to G
at 4839209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023189]
[ENSMUST00000115844]
|
| AlphaFold |
Q922P9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023189
|
| SMART Domains |
Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
6 |
89 |
1.4e-24 |
PFAM |
|
low complexity region
|
109 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
167 |
179 |
3.21e-1 |
SMART |
|
Pfam:NAD_binding_2
|
266 |
422 |
1.2e-36 |
PFAM |
|
Pfam:F420_oxidored
|
268 |
355 |
2e-6 |
PFAM |
|
Pfam:NAD_binding_11
|
423 |
544 |
2.7e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115844
|
| SMART Domains |
Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
6 |
89 |
1.8e-24 |
PFAM |
|
low complexity region
|
109 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
167 |
179 |
3.21e-1 |
SMART |
|
Pfam:NAD_binding_2
|
266 |
428 |
2.6e-41 |
PFAM |
|
Pfam:F420_oxidored
|
268 |
361 |
3.2e-9 |
PFAM |
|
Pfam:NAD_binding_11
|
429 |
550 |
3.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231132
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,742,327 (GRCm39) |
E715K |
possibly damaging |
Het |
| Cbr2 |
T |
A |
11: 120,621,259 (GRCm39) |
I147F |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,755,620 (GRCm39) |
N302S |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,969,677 (GRCm39) |
H732Q |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,356,772 (GRCm39) |
V236F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,326,590 (GRCm39) |
E104G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,032,927 (GRCm39) |
F71L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,447,392 (GRCm39) |
M1399T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,824,784 (GRCm39) |
V1324A |
possibly damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,271,257 (GRCm39) |
H713L |
possibly damaging |
Het |
| Opn5 |
C |
T |
17: 42,922,218 (GRCm39) |
|
probably null |
Het |
| Poteg |
A |
T |
8: 27,937,967 (GRCm39) |
Y41F |
probably damaging |
Het |
| Prb1b |
T |
A |
6: 132,290,618 (GRCm39) |
D27V |
unknown |
Het |
| Psd2 |
C |
A |
18: 36,112,839 (GRCm39) |
T178K |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,687,657 (GRCm39) |
T374A |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,041,246 (GRCm39) |
|
probably null |
Het |
| Tmem120a |
A |
G |
5: 135,764,958 (GRCm39) |
L272P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,272 (GRCm39) |
I30F |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,937,647 (GRCm39) |
D465G |
possibly damaging |
Het |
| Zan |
G |
A |
5: 137,432,325 (GRCm39) |
A2324V |
unknown |
Het |
|
| Other mutations in Glyr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Glyr1
|
APN |
16 |
4,838,152 (GRCm39) |
missense |
probably benign |
|
|
IGL02332:Glyr1
|
APN |
16 |
4,836,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Glyr1
|
APN |
16 |
4,854,812 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02429:Glyr1
|
APN |
16 |
4,837,240 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03255:Glyr1
|
APN |
16 |
4,866,621 (GRCm39) |
splice site |
probably null |
|
|
R0020:Glyr1
|
UTSW |
16 |
4,854,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Glyr1
|
UTSW |
16 |
4,849,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0694:Glyr1
|
UTSW |
16 |
4,844,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1347:Glyr1
|
UTSW |
16 |
4,839,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1347:Glyr1
|
UTSW |
16 |
4,839,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Glyr1
|
UTSW |
16 |
4,839,209 (GRCm39) |
frame shift |
probably null |
|
|
R1383:Glyr1
|
UTSW |
16 |
4,839,209 (GRCm39) |
frame shift |
probably null |
|
|
R2137:Glyr1
|
UTSW |
16 |
4,836,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2254:Glyr1
|
UTSW |
16 |
4,836,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3913:Glyr1
|
UTSW |
16 |
4,849,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Glyr1
|
UTSW |
16 |
4,836,350 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4629:Glyr1
|
UTSW |
16 |
4,854,907 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4795:Glyr1
|
UTSW |
16 |
4,865,622 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5112:Glyr1
|
UTSW |
16 |
4,836,740 (GRCm39) |
nonsense |
probably null |
|
|
R5412:Glyr1
|
UTSW |
16 |
4,854,297 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5757:Glyr1
|
UTSW |
16 |
4,836,856 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6425:Glyr1
|
UTSW |
16 |
4,854,350 (GRCm39) |
splice site |
probably null |
|
|
R7646:Glyr1
|
UTSW |
16 |
4,836,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7942:Glyr1
|
UTSW |
16 |
4,836,785 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8415:Glyr1
|
UTSW |
16 |
4,854,329 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Glyr1
|
UTSW |
16 |
4,849,837 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCCCAAAAGGAGTTGGCCCAC -3'
(R):5'- AGCAGACACTGGCCTTGTGTGAAG -3'
Sequencing Primer
(F):5'- GGAGTTGGCCCACAGATG -3'
(R):5'- TCCTGCCTTGGGAAATCAGAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation