Incidental Mutation 'R2369:Ahcyl1'
ID |
246423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahcyl1
|
Ensembl Gene |
ENSMUSG00000027893 |
Gene Name |
S-adenosylhomocysteine hydrolase-like 1 |
Synonyms |
Ahcy-rs3, DCAL, IRBIT, 1110034F20Rik |
MMRRC Submission |
040349-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2369 (G1)
|
Quality Score |
185 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107570436-107603876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107577556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 288
(D288G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029490]
[ENSMUST00000153623]
|
AlphaFold |
Q80SW1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029490
AA Change: D288G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029490 Gene: ENSMUSG00000027893 AA Change: D288G
Domain | Start | End | E-Value | Type |
Blast:AdoHcyase
|
10 |
40 |
1e-8 |
BLAST |
low complexity region
|
61 |
87 |
N/A |
INTRINSIC |
AdoHcyase
|
104 |
529 |
3.29e-266 |
SMART |
AdoHcyase_NAD
|
289 |
450 |
6.69e-103 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137583
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138091
|
SMART Domains |
Protein: ENSMUSP00000117909 Gene: ENSMUSG00000027893
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
Pfam:AdoHcyase
|
43 |
168 |
2e-59 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138116
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144864
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153530
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153623
|
SMART Domains |
Protein: ENSMUSP00000121510 Gene: ENSMUSG00000027893
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
Pfam:AdoHcyase
|
56 |
210 |
4.7e-71 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] PHENOTYPE: Mice homozygous for a knock-out allele display abnormal exocrine pancreas physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,408,849 (GRCm39) |
|
probably null |
Het |
Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,623 (GRCm39) |
|
probably null |
Het |
Paqr6 |
T |
C |
3: 88,273,260 (GRCm39) |
L84P |
probably damaging |
Het |
Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
Rassf4 |
A |
G |
6: 116,615,258 (GRCm39) |
F304L |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
probably benign |
Het |
|
Other mutations in Ahcyl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02023:Ahcyl1
|
APN |
3 |
107,575,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02957:Ahcyl1
|
APN |
3 |
107,574,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Ahcyl1
|
UTSW |
3 |
107,577,586 (GRCm39) |
nonsense |
probably null |
|
R0670:Ahcyl1
|
UTSW |
3 |
107,578,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Ahcyl1
|
UTSW |
3 |
107,603,505 (GRCm39) |
missense |
probably benign |
|
R1779:Ahcyl1
|
UTSW |
3 |
107,581,419 (GRCm39) |
missense |
probably benign |
|
R2355:Ahcyl1
|
UTSW |
3 |
107,577,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Ahcyl1
|
UTSW |
3 |
107,572,834 (GRCm39) |
nonsense |
probably null |
|
R4712:Ahcyl1
|
UTSW |
3 |
107,574,547 (GRCm39) |
unclassified |
probably benign |
|
R4721:Ahcyl1
|
UTSW |
3 |
107,577,233 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4996:Ahcyl1
|
UTSW |
3 |
107,575,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Ahcyl1
|
UTSW |
3 |
107,577,206 (GRCm39) |
critical splice donor site |
probably null |
|
R6692:Ahcyl1
|
UTSW |
3 |
107,582,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6881:Ahcyl1
|
UTSW |
3 |
107,575,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Ahcyl1
|
UTSW |
3 |
107,578,513 (GRCm39) |
nonsense |
probably null |
|
R7853:Ahcyl1
|
UTSW |
3 |
107,575,604 (GRCm39) |
missense |
probably benign |
0.18 |
R7895:Ahcyl1
|
UTSW |
3 |
107,576,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R8055:Ahcyl1
|
UTSW |
3 |
107,576,047 (GRCm39) |
missense |
probably benign |
0.00 |
R8892:Ahcyl1
|
UTSW |
3 |
107,579,378 (GRCm39) |
missense |
probably benign |
|
R9351:Ahcyl1
|
UTSW |
3 |
107,575,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Ahcyl1
|
UTSW |
3 |
107,578,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R9433:Ahcyl1
|
UTSW |
3 |
107,575,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Ahcyl1
|
UTSW |
3 |
107,579,388 (GRCm39) |
nonsense |
probably null |
|
R9522:Ahcyl1
|
UTSW |
3 |
107,579,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R9632:Ahcyl1
|
UTSW |
3 |
107,578,494 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9710:Ahcyl1
|
UTSW |
3 |
107,578,494 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9800:Ahcyl1
|
UTSW |
3 |
107,577,588 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ahcyl1
|
UTSW |
3 |
107,580,751 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCACTGTGAAGTGGGCTCC -3'
(R):5'- GACTAGTCACGTTTCCAAAGAACTTC -3'
Sequencing Primer
(F):5'- CTGTGAAGTGGGCTCCTTTAATAAC -3'
(R):5'- ACGTTTCCAAAGAACTTCTGGGC -3'
|
Posted On |
2014-10-30 |