Incidental Mutation 'IGL03255:Glyr1'
| ID |
414613 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glyr1
|
| Ensembl Gene |
ENSMUSG00000022536 |
| Gene Name |
glyoxylate reductase 1 homolog (Arabidopsis) |
| Synonyms |
NDF, 2810419J22Rik, 3930401K13Rik, Npac |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.435)
|
| Stock # |
IGL03255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4831773-4867727 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 4866621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023189]
[ENSMUST00000052449]
[ENSMUST00000115844]
[ENSMUST00000229126]
[ENSMUST00000230703]
|
| AlphaFold |
Q922P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023189
AA Change: P23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
AA Change: P23L
| 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: ENSMUST00000052449
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HUN
|
117 |
168 |
1.4e-22 |
PFAM |
|
low complexity region
|
181 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
353 |
573 |
2.4e-80 |
PFAM |
|
low complexity region
|
792 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1098 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115844
AA Change: P23L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
AA Change: P23L
| 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 |
probably null
Transcript: ENSMUST00000229126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229928
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231132
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
A |
G |
1: 158,796,921 (GRCm39) |
|
noncoding transcript |
Het |
| Alpk3 |
A |
G |
7: 80,742,310 (GRCm39) |
D709G |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,320,189 (GRCm39) |
R309L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,884,086 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,184,960 (GRCm39) |
Y162* |
probably null |
Het |
| Defa26 |
A |
T |
8: 22,108,257 (GRCm39) |
D20V |
probably damaging |
Het |
| Defa39 |
T |
C |
8: 22,193,534 (GRCm39) |
T29A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 30,960,355 (GRCm39) |
L2244R |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,700,191 (GRCm39) |
N353I |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,525,331 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
A |
G |
5: 26,321,899 (GRCm39) |
S258P |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,760 (GRCm39) |
D845V |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,084,051 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Nelfb |
G |
T |
2: 25,093,207 (GRCm39) |
H482N |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,725 (GRCm39) |
L246P |
possibly damaging |
Het |
| Or5p58 |
A |
G |
7: 107,694,024 (GRCm39) |
V251A |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 75,986,346 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
T |
G |
6: 121,331,246 (GRCm39) |
C166G |
probably damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,507,618 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,682,894 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,540 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,419,341 (GRCm39) |
I73F |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,911 (GRCm39) |
M168V |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,131 (GRCm39) |
M819K |
probably benign |
Het |
| Vmo1 |
C |
T |
11: 70,405,236 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,855,936 (GRCm39) |
D104G |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation