Incidental Mutation 'R6425:Glyr1'
| ID |
518308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyr1
|
| Ensembl Gene |
ENSMUSG00000022536 |
| Gene Name |
glyoxylate reductase 1 homolog (Arabidopsis) |
| Synonyms |
NDF, 2810419J22Rik, 3930401K13Rik, Npac |
| MMRRC Submission |
044564-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R6425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4831773-4867727 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 4854350 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
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
| Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
| Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
| Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
| Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
| Dtl |
T |
C |
1: 191,278,735 (GRCm39) |
I376V |
probably benign |
Het |
| F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
| Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
| Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
| Lgals4 |
A |
T |
7: 28,533,885 (GRCm39) |
K20* |
probably null |
Het |
| Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,640 (GRCm39) |
V345A |
possibly damaging |
Het |
| Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
| Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
C |
T |
5: 66,180,159 (GRCm39) |
G452S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
| Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
| Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,630,329 (GRCm39) |
M622K |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
| Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
possibly damaging |
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 |
|
R0971:Glyr1
|
UTSW |
16 |
4,839,209 (GRCm39) |
frame shift |
probably null |
|
|
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 |
|
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'- TGTCTGCAGAGCCTGAAGTC -3'
(R):5'- AAGAGATCTTAGGAATTCAGCCACC -3'
Sequencing Primer
(F):5'- AGAGCCTGAAGTCACCCTCTTC -3'
(R):5'- GTTCACAGAACTGCTGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation