Incidental Mutation 'R1347:Glyr1'
| ID |
186174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyr1
|
| Ensembl Gene |
ENSMUSG00000022536 |
| Gene Name |
glyoxylate reductase 1 homolog (Arabidopsis) |
| Synonyms |
NDF, 2810419J22Rik, 3930401K13Rik, Npac |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4831773-4867727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4839203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 338
(D338G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023189]
[ENSMUST00000115844]
|
| AlphaFold |
Q922P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023189
AA Change: D332G
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
AA Change: D332G
| 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 damaging
Transcript: ENSMUST00000115844
AA Change: D338G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
AA Change: D338G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,135,567 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,330 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
probably 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 |
|
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'- CTTTGGACAAAAGAAAGGCACACTCAG -3'
(R):5'- GAAATCAGACAGGGGCATACACATCTC -3'
Sequencing Primer
(F):5'- AGTCCAGCTCAGTAGAATTCCTG -3'
(R):5'- GGCATACACATCTCTGGCCTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation