Incidental Mutation 'IGL02966:Ahcyl2'
| ID |
365612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ahcyl2
|
| Ensembl Gene |
ENSMUSG00000029772 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
| Synonyms |
4631427C17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
IGL02966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29880556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 175
(V175I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
[ENSMUST00000128927]
[ENSMUST00000134438]
[ENSMUST00000154079]
[ENSMUST00000143091]
|
| AlphaFold |
Q68FL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064872
AA Change: V175I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: V175I
| 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: V279I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: V279I
| 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: V175I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: V175I
| 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: V280I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: V280I
| 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: V71I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: V71I
| 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: V176I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772
AA Change: V176I
| 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
AA Change: V193I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772
AA Change: V193I
| 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 |
probably benign
Transcript: ENSMUST00000154079
AA Change: V175I
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115093
Gene: ENSMUSG00000029772
AA Change: V175I
| 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: ENSMUST00000143091
AA Change: V71I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144873
Gene: ENSMUSG00000029772
AA Change: V71I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AdoHcyase
|
1 |
115 |
2.1e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149816
|
| 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 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,101,165 (GRCm39) |
|
probably benign |
Het |
| Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
| Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
| C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
| Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
| Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
| Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
| Dgkq |
T |
A |
5: 108,804,287 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
| Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,264,129 (GRCm39) |
S361P |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
| Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
| Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,809,668 (GRCm39) |
C424G |
probably damaging |
Het |
| Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
| Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,806 (GRCm39) |
I646V |
probably benign |
Het |
| Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
| Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
| Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
| Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
| Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
| Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
| Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
possibly damaging |
Het |
|
| Other mutations in Ahcyl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation