Incidental Mutation 'R0670:Ahcyl1'
| ID |
61388 |
| 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 |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107570436-107603876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107578481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 205
(V205E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029490]
[ENSMUST00000153623]
|
| AlphaFold |
Q80SW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029490
AA Change: V252E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: V252E
| 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 |
probably damaging
Transcript: ENSMUST00000153623
AA Change: V205E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121510
Gene: ENSMUSG00000027893
AA Change: V205E
| 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: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
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 |
|
|
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 |
|
R2369:Ahcyl1
|
UTSW |
3 |
107,577,556 (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'- GAGCACAAGTTTTCCAAGACACATTCC -3'
(R):5'- AGCTTTCCACTGTAGCCTAGAACTCAT -3'
Sequencing Primer
(F):5'- TTAGTTACTCAGTGGAGCAAATGG -3'
(R):5'- GAAGTGCTCTTTCAAAATATCCAGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation