Incidental Mutation 'IGL02023:Ahcyl1'
| ID |
184039 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ahcyl1
|
| Ensembl Gene |
ENSMUSG00000027893 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 1 |
| Synonyms |
Ahcy-rs3, DCAL, IRBIT, 1110034F20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107570436-107603876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107575010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 444
(N444K)
|
| 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: N444K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: N444K
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,953,942 (GRCm39) |
K833E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,519 (GRCm39) |
I312V |
probably benign |
Het |
| Adcy8 |
T |
A |
15: 64,694,069 (GRCm39) |
I403F |
probably damaging |
Het |
| Ang4 |
T |
C |
14: 52,001,511 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,870,841 (GRCm39) |
V401A |
possibly damaging |
Het |
| Atp7a |
A |
T |
X: 105,138,588 (GRCm39) |
I604F |
probably damaging |
Het |
| Cd151 |
T |
C |
7: 141,050,370 (GRCm39) |
Y202H |
probably damaging |
Het |
| Cd99l2 |
A |
T |
X: 70,493,552 (GRCm39) |
N64K |
possibly damaging |
Het |
| Cog7 |
C |
T |
7: 121,543,000 (GRCm39) |
|
probably null |
Het |
| Decr2 |
A |
T |
17: 26,306,354 (GRCm39) |
M94K |
probably benign |
Het |
| Dock11 |
A |
T |
X: 35,232,422 (GRCm39) |
H188L |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,602,397 (GRCm39) |
S682G |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
G |
T |
14: 57,273,136 (GRCm39) |
P412Q |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,758,262 (GRCm39) |
N333D |
probably benign |
Het |
| Gpr65 |
T |
A |
12: 98,242,127 (GRCm39) |
V260D |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,485,604 (GRCm39) |
E264G |
possibly damaging |
Het |
| Hsph1 |
T |
C |
5: 149,557,324 (GRCm39) |
R46G |
probably damaging |
Het |
| Hycc2 |
G |
A |
1: 58,569,274 (GRCm39) |
A435V |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,841,725 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,494 (GRCm39) |
H35R |
probably damaging |
Het |
| Mfge8 |
C |
T |
7: 78,794,985 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,214,045 (GRCm39) |
Y9* |
probably null |
Het |
| Mpdz |
A |
T |
4: 81,247,766 (GRCm39) |
I1074N |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,772,453 (GRCm39) |
|
noncoding transcript |
Het |
| Nbea |
A |
T |
3: 55,588,437 (GRCm39) |
M2434K |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,245,078 (GRCm39) |
L540P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,121,858 (GRCm39) |
R554G |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,032 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,443,158 (GRCm39) |
S231T |
probably benign |
Het |
| Osbpl10 |
T |
A |
9: 115,055,790 (GRCm39) |
V654D |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,314 (GRCm39) |
G105V |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,616 (GRCm39) |
V200A |
probably damaging |
Het |
| Ppard |
A |
G |
17: 28,517,871 (GRCm39) |
H313R |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,838,335 (GRCm39) |
L103P |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,431 (GRCm39) |
L104Q |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,704 (GRCm39) |
V2253A |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,668,607 (GRCm39) |
S43P |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,707,695 (GRCm39) |
G1742V |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,915,804 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,999 (GRCm39) |
N14902S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,465,711 (GRCm39) |
T2760A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,388 (GRCm39) |
N398D |
probably damaging |
Het |
|
| Other mutations in Ahcyl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation