Incidental Mutation 'R6531:Ahcyl2'
| ID |
522345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahcyl2
|
| Ensembl Gene |
ENSMUSG00000029772 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
| Synonyms |
4631427C17Rik |
| MMRRC Submission |
044657-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R6531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29886161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 359
(M359R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
[ENSMUST00000128927]
[ENSMUST00000134438]
[ENSMUST00000143091]
|
| AlphaFold |
Q68FL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064872
AA Change: M254R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: M254R
| 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
AA Change: M358R
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: M358R
| 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: M254R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: M254R
| 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
AA Change: M359R
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: M359R
| 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
AA Change: M150R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: M150R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
69 |
N/A |
INTRINSIC |
|
Pfam:AdoHcyase
|
82 |
223 |
3.5e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134438
|
| SMART Domains |
Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772
| 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: ENSMUST00000149816
|
| 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 |
|
| Meta Mutation Damage Score |
0.8487 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,926,980 (GRCm39) |
E880G |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
| Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
| Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
| Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
| Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
| Epb41 |
T |
C |
4: 131,684,947 (GRCm39) |
T711A |
probably benign |
Het |
| Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
| Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
| Or1j15 |
G |
A |
2: 36,459,353 (GRCm39) |
V248I |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
| Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
| Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,788 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
| Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
| Trim43b |
A |
T |
9: 88,967,418 (GRCm39) |
L405H |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
| Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
probably 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 |
|
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 |
|
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 |
|
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'- GAGCTTTATTGCCAGGCTGG -3'
(R):5'- GGTGTGATGTGGTTAAACATGAAAC -3'
Sequencing Primer
(F):5'- TCTCTGTATCTGTCTTGTAGGATG -3'
(R):5'- GTGGTTAAACATGAAACAGTTCCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation