Incidental Mutation 'IGL02957:Ahcyl1'
| ID |
365178 |
| 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 # |
IGL02957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
107570436-107603876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107574958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 462
(Q462K)
|
| 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: Q462K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: Q462K
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,509,945 (GRCm39) |
D262G |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
| C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
| Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
| Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
| Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
| Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
| Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
| Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,054,439 (GRCm39) |
S502G |
probably benign |
Het |
| Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
| Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,842 (GRCm39) |
K493E |
possibly damaging |
Het |
| Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
| Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
| Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
| Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
T |
C |
17: 56,007,009 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
| Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
| Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
| Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
| Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
| Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
| Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
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 |
|
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 |
2015-12-18 |
Incidental Mutation