Incidental Mutation 'R5019:Ahcyl2'
| ID |
389091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahcyl2
|
| Ensembl Gene |
ENSMUSG00000029772 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
| Synonyms |
4631427C17Rik |
| MMRRC Submission |
042610-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R5019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29859738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 6
(K6M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
[ENSMUST00000128927]
[ENSMUST00000134438]
[ENSMUST00000143091]
[ENSMUST00000152581]
[ENSMUST00000154079]
[ENSMUST00000150365]
[ENSMUST00000176265]
|
| AlphaFold |
Q68FL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064872
|
| SMART Domains |
Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
|
AdoHcyase
|
82 |
507 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
267 |
428 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102995
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
172 |
N/A |
INTRINSIC |
|
AdoHcyase
|
186 |
611 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
371 |
532 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115238
AA Change: K6M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: K6M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
|
AdoHcyase
|
82 |
507 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
267 |
428 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115242
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
173 |
N/A |
INTRINSIC |
|
AdoHcyase
|
187 |
612 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
372 |
533 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125911
|
| SMART Domains |
Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
AdoHcyase
|
1 |
403 |
8.07e-243 |
SMART |
|
AdoHcyase_NAD
|
163 |
324 |
2.21e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128927
AA Change: K6M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772
AA Change: K6M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
69 |
N/A |
INTRINSIC |
|
Pfam:AdoHcyase
|
82 |
223 |
3.5e-66 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134438
AA Change: K6M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772
AA Change: K6M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
86 |
N/A |
INTRINSIC |
|
Pfam:AdoHcyase
|
99 |
238 |
1.1e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143091
|
| SMART Domains |
Protein: ENSMUSP00000144873
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AdoHcyase
|
1 |
115 |
2.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152581
|
| SMART Domains |
Protein: ENSMUSP00000135386
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154079
|
| SMART Domains |
Protein: ENSMUSP00000115093
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
68 |
N/A |
INTRINSIC |
|
Pfam:AdoHcyase
|
81 |
181 |
2.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150365
|
| SMART Domains |
Protein: ENSMUSP00000134827
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176265
|
| SMART Domains |
Protein: ENSMUSP00000135714
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
69 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1131 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
| Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
| Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
| Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
| Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
| Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
| Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
| Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
| Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
| Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
| Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
Het |
|
| Other mutations in Ahcyl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02966:Ahcyl2
|
APN |
6 |
29,880,556 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03072:Ahcyl2
|
APN |
6 |
29,906,500 (GRCm39) |
splice site |
probably benign |
|
|
IGL03195:Ahcyl2
|
APN |
6 |
29,906,768 (GRCm39) |
splice site |
probably benign |
|
|
R0189:Ahcyl2
|
UTSW |
6 |
29,891,242 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0395:Ahcyl2
|
UTSW |
6 |
29,886,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Ahcyl2
|
UTSW |
6 |
29,890,670 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0924:Ahcyl2
|
UTSW |
6 |
29,870,627 (GRCm39) |
splice site |
probably null |
|
|
R0930:Ahcyl2
|
UTSW |
6 |
29,870,627 (GRCm39) |
splice site |
probably null |
|
|
R1413:Ahcyl2
|
UTSW |
6 |
29,768,586 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1446:Ahcyl2
|
UTSW |
6 |
29,891,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1822:Ahcyl2
|
UTSW |
6 |
29,768,583 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1864:Ahcyl2
|
UTSW |
6 |
29,908,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Ahcyl2
|
UTSW |
6 |
29,908,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3810:Ahcyl2
|
UTSW |
6 |
29,891,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4429:Ahcyl2
|
UTSW |
6 |
29,894,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Ahcyl2
|
UTSW |
6 |
29,890,700 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5032:Ahcyl2
|
UTSW |
6 |
29,768,555 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5396:Ahcyl2
|
UTSW |
6 |
29,859,697 (GRCm39) |
intron |
probably benign |
|
|
R5604:Ahcyl2
|
UTSW |
6 |
29,908,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Ahcyl2
|
UTSW |
6 |
29,890,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Ahcyl2
|
UTSW |
6 |
29,886,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Ahcyl2
|
UTSW |
6 |
29,908,457 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6531:Ahcyl2
|
UTSW |
6 |
29,886,161 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7025:Ahcyl2
|
UTSW |
6 |
29,908,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Ahcyl2
|
UTSW |
6 |
29,903,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Ahcyl2
|
UTSW |
6 |
29,886,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Ahcyl2
|
UTSW |
6 |
29,768,555 (GRCm39) |
missense |
unknown |
|
|
R7960:Ahcyl2
|
UTSW |
6 |
29,870,626 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7969:Ahcyl2
|
UTSW |
6 |
29,870,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Ahcyl2
|
UTSW |
6 |
29,878,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Ahcyl2
|
UTSW |
6 |
29,768,869 (GRCm39) |
missense |
probably benign |
|
|
R9432:Ahcyl2
|
UTSW |
6 |
29,768,874 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTCAGAGATAGCCACCTC -3'
(R):5'- CTGTCTAACACCGAGGCAAG -3'
Sequencing Primer
(F):5'- GAGATAGCCACCTCCCTCAAAAGG -3'
(R):5'- AGTGGCTGGTAGAATGGGTAACTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation