Incidental Mutation 'R4429:Ahcyl2'
| ID |
328317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahcyl2
|
| Ensembl Gene |
ENSMUSG00000029772 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
| Synonyms |
4631427C17Rik |
| MMRRC Submission |
041699-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R4429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29894874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 452
(V452G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
|
| AlphaFold |
Q68FL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064872
AA Change: V348G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: V348G
| 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 damaging
Transcript: ENSMUST00000102995
AA Change: V452G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: V452G
| 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 damaging
Transcript: ENSMUST00000115238
AA Change: V348G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: V348G
| 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 damaging
Transcript: ENSMUST00000115242
AA Change: V453G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: V453G
| 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 |
possibly damaging
Transcript: ENSMUST00000125911
AA Change: V244G
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: V244G
| Domain | Start | End | E-Value | Type |
|---|
|
AdoHcyase
|
1 |
403 |
8.07e-243 |
SMART |
|
AdoHcyase_NAD
|
163 |
324 |
2.21e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201020
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,202,236 (GRCm39) |
T390A |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,828,804 (GRCm39) |
N545I |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Catip |
T |
A |
1: 74,407,891 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cnpy3 |
T |
A |
17: 47,058,070 (GRCm39) |
Q111L |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,971,120 (GRCm39) |
N2725D |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,033,213 (GRCm39) |
E66K |
probably damaging |
Het |
| Gm6594 |
T |
A |
17: 82,846,923 (GRCm39) |
D79E |
probably benign |
Het |
| Gtf2e2 |
T |
A |
8: 34,242,521 (GRCm39) |
Y74* |
probably null |
Het |
| Hacd4 |
A |
T |
4: 88,353,184 (GRCm39) |
F103I |
possibly damaging |
Het |
| Hap1 |
T |
C |
11: 100,245,098 (GRCm39) |
T38A |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,347,387 (GRCm39) |
D72E |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,839,860 (GRCm39) |
T362I |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,693,538 (GRCm39) |
|
probably null |
Het |
| Lemd3 |
T |
C |
10: 120,813,893 (GRCm39) |
T447A |
probably benign |
Het |
| Lrrc72 |
T |
C |
12: 36,258,623 (GRCm39) |
N78S |
probably damaging |
Het |
| Map3k14 |
A |
G |
11: 103,118,410 (GRCm39) |
L592P |
probably damaging |
Het |
| Meioc |
T |
C |
11: 102,566,546 (GRCm39) |
Y721H |
probably damaging |
Het |
| Mrps10 |
T |
A |
17: 47,689,124 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,201,283 (GRCm39) |
Y1406C |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,702,395 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Nol9 |
C |
T |
4: 152,125,631 (GRCm39) |
T194I |
probably damaging |
Het |
| Nox3 |
G |
A |
17: 3,733,233 (GRCm39) |
T206I |
probably benign |
Het |
| Nsd2 |
T |
G |
5: 34,000,546 (GRCm39) |
M21R |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,820 (GRCm39) |
N327S |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,728,114 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
A |
6: 115,416,984 (GRCm39) |
M59K |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,613,796 (GRCm39) |
K1116R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,163,369 (GRCm39) |
E368K |
probably benign |
Het |
| Rita1 |
A |
G |
5: 120,747,626 (GRCm39) |
V224A |
probably damaging |
Het |
| Rsph6a |
T |
A |
7: 18,807,988 (GRCm39) |
W384R |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,181,329 (GRCm39) |
Y65N |
possibly damaging |
Het |
| Serpina5 |
C |
A |
12: 104,069,665 (GRCm39) |
F292L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,552,750 (GRCm39) |
L511V |
probably benign |
Het |
| Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,424,091 (GRCm39) |
V581A |
possibly damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,788,383 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Timm29 |
G |
C |
9: 21,504,775 (GRCm39) |
A148P |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Uba6 |
C |
T |
5: 86,268,406 (GRCm39) |
V941I |
probably damaging |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,565 (GRCm39) |
V77A |
probably benign |
Het |
| Zfp661 |
A |
G |
2: 127,420,628 (GRCm39) |
V57A |
probably damaging |
Het |
| Zfp867 |
C |
T |
11: 59,355,863 (GRCm39) |
D64N |
possibly damaging |
Het |
| Zp3r |
T |
C |
1: 130,519,128 (GRCm39) |
T294A |
possibly damaging |
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 |
|
R4932:Ahcyl2
|
UTSW |
6 |
29,890,700 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5019:Ahcyl2
|
UTSW |
6 |
29,859,738 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- TTCCAGCTGTCCAGGAAGTG -3'
(R):5'- TACATGCATGTGTGTCTCTCTG -3'
Sequencing Primer
(F):5'- TGTCCAGGAAGTGACACTGTAACTAC -3'
(R):5'- ATAGAACCTGGGTCCTTTGCAAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation