Incidental Mutation 'R2997:Ahcyl'
| ID |
257208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahcyl
|
| Ensembl Gene |
ENSMUSG00000048087 |
| Gene Name |
adenosylhomocysteinase like |
| Synonyms |
Gm4737 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R2997 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45973348-45975440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45974288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 363
(T363I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059524]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059524
AA Change: T363I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127198
Gene: ENSMUSG00000048087
AA Change: T363I
| Domain | Start | End | E-Value | Type |
|---|
|
AdoHcyase
|
6 |
431 |
N/A |
SMART |
|
AdoHcyase_NAD
|
191 |
352 |
1.49e-118 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,523,285 (GRCm39) |
V82E |
probably damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,239 (GRCm39) |
|
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,644,661 (GRCm39) |
F228L |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,523,021 (GRCm39) |
D519E |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,230,635 (GRCm39) |
I430F |
probably benign |
Het |
| Lgr4 |
A |
T |
2: 109,833,862 (GRCm39) |
E369D |
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,050,697 (GRCm39) |
V385D |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,988,233 (GRCm39) |
D52E |
probably damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,810 (GRCm39) |
V139F |
probably benign |
Het |
| Myg1 |
G |
T |
15: 102,245,945 (GRCm39) |
R315L |
probably null |
Het |
| Pcare |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
17: 72,051,706 (GRCm39) |
|
probably benign |
Het |
| Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,716,350 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,800 (GRCm39) |
D268G |
probably damaging |
Het |
|
| Other mutations in Ahcyl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:Ahcyl
|
APN |
16 |
45,974,441 (GRCm39) |
missense |
probably benign |
|
|
IGL03347:Ahcyl
|
APN |
16 |
45,974,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0326:Ahcyl
|
UTSW |
16 |
45,974,246 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0552:Ahcyl
|
UTSW |
16 |
45,974,955 (GRCm39) |
missense |
probably benign |
|
|
R0610:Ahcyl
|
UTSW |
16 |
45,974,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ahcyl
|
UTSW |
16 |
45,974,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Ahcyl
|
UTSW |
16 |
45,974,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1473:Ahcyl
|
UTSW |
16 |
45,975,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Ahcyl
|
UTSW |
16 |
45,974,330 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4818:Ahcyl
|
UTSW |
16 |
45,974,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Ahcyl
|
UTSW |
16 |
45,975,147 (GRCm39) |
missense |
probably benign |
|
|
R7358:Ahcyl
|
UTSW |
16 |
45,974,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Ahcyl
|
UTSW |
16 |
45,974,970 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8260:Ahcyl
|
UTSW |
16 |
45,974,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Ahcyl
|
UTSW |
16 |
45,974,468 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9048:Ahcyl
|
UTSW |
16 |
45,974,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Ahcyl
|
UTSW |
16 |
45,975,035 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9655:Ahcyl
|
UTSW |
16 |
45,974,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Ahcyl
|
UTSW |
16 |
45,974,342 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Ahcyl
|
UTSW |
16 |
45,974,592 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCGGTAGTGATCAGGC -3'
(R):5'- GGACACTTCGATGTGGAGATTG -3'
Sequencing Primer
(F):5'- CGGTAGTGATCAGGCTTGAAG -3'
(R):5'- TTGATGTGAAGTGGCTCAATGAGAAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation