Incidental Mutation 'R6692:Ahcyl1'
| ID |
527904 |
| 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 |
044810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107570436-107603876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107582401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 54
(G54D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029490]
[ENSMUST00000153623]
|
| AlphaFold |
Q80SW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029490
AA Change: G101D
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: G101D
| 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 |
unknown
Transcript: ENSMUST00000138091
AA Change: G39D
|
| SMART Domains |
Protein: ENSMUSP00000117909
Gene: ENSMUSG00000027893
AA Change: G39D
| 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 |
probably damaging
Transcript: ENSMUST00000153623
AA Change: G54D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121510
Gene: ENSMUSG00000027893
AA Change: G54D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1b1 |
T |
C |
4: 45,803,427 (GRCm39) |
C322R |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,363,377 (GRCm39) |
I258V |
probably damaging |
Het |
| Cenph |
T |
C |
13: 100,909,243 (GRCm39) |
I55V |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,405,006 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,563,919 (GRCm39) |
Y431C |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Cyp4f40 |
C |
G |
17: 32,894,716 (GRCm39) |
T427S |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,119,490 (GRCm39) |
I137T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,384,335 (GRCm39) |
D168E |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,072,696 (GRCm39) |
L376H |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,361 (GRCm39) |
M499K |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,926,230 (GRCm39) |
V426M |
probably damaging |
Het |
| Lypla2 |
C |
A |
4: 135,698,173 (GRCm39) |
A26S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,723,987 (GRCm39) |
V323A |
possibly damaging |
Het |
| Mdfic2 |
T |
G |
6: 98,225,169 (GRCm39) |
H38P |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,725,360 (GRCm39) |
L83P |
probably damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,398,179 (GRCm39) |
A1039D |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
G |
2: 87,139,336 (GRCm39) |
T68A |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,425,072 (GRCm39) |
S623T |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,095,348 (GRCm39) |
M227K |
probably benign |
Het |
| Rell1 |
T |
G |
5: 64,095,210 (GRCm39) |
K85N |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,165,652 (GRCm39) |
T93A |
probably damaging |
Het |
| Sccpdh |
T |
A |
1: 179,511,792 (GRCm39) |
M88K |
possibly damaging |
Het |
| Siae |
T |
G |
9: 37,554,095 (GRCm39) |
|
probably null |
Het |
| Slc22a16 |
G |
A |
10: 40,479,901 (GRCm39) |
E637K |
unknown |
Het |
| Stk19 |
C |
T |
17: 35,043,770 (GRCm39) |
G95S |
probably benign |
Het |
| Stpg2 |
G |
A |
3: 139,228,738 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
T |
A |
7: 13,358,057 (GRCm39) |
F30I |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,853 (GRCm39) |
E748G |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,869,126 (GRCm39) |
H306Q |
probably benign |
Het |
| Try10 |
G |
A |
6: 41,334,755 (GRCm39) |
G227D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,713 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,749,436 (GRCm39) |
H3871L |
probably benign |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,745 (GRCm39) |
I57V |
possibly damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,666 (GRCm39) |
S75P |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,894 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- GGCTCAGTTTCCATATAGAGAGAAG -3'
(R):5'- ATGACGTAAAAGGGACCTGC -3'
Sequencing Primer
(F):5'- GTGTTTATCCAAAGTGTGAGAAACTC -3'
(R):5'- GGACCTGCAATTAAAAGTGTTCGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation