Incidental Mutation 'R0924:Ahcyl2'
| ID |
83075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahcyl2
|
| Ensembl Gene |
ENSMUSG00000029772 |
| Gene Name |
S-adenosylhomocysteine hydrolase-like 2 |
| Synonyms |
4631427C17Rik |
| MMRRC Submission |
039071-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R0924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29768378-29912309 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 29870627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064872]
[ENSMUST00000102995]
[ENSMUST00000115238]
[ENSMUST00000115242]
[ENSMUST00000125911]
[ENSMUST00000128927]
[ENSMUST00000134438]
[ENSMUST00000143091]
[ENSMUST00000154079]
[ENSMUST00000176265]
[ENSMUST00000150365]
|
| AlphaFold |
Q68FL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064872
AA Change: N76T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: N76T
| 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: N180T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: N180T
| 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: N76T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: N76T
| 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: N181T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: N181T
| 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: N77T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772
AA Change: N77T
| 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: N94T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772
AA Change: N94T
| 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: ENSMUST00000166718
AA Change: N211T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133136
Gene: ENSMUSG00000029772
AA Change: N211T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
203 |
N/A |
INTRINSIC |
|
AdoHcyase
|
217 |
642 |
4.47e-268 |
SMART |
|
AdoHcyase_NAD
|
402 |
563 |
2.21e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138205
|
| 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: ENSMUST00000154079
AA Change: N76T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115093
Gene: ENSMUSG00000029772
AA Change: N76T
| 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 null
Transcript: ENSMUST00000176265
|
| SMART Domains |
Protein: ENSMUSP00000135714
Gene: ENSMUSG00000029772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135396
|
| 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 |
|
| Meta Mutation Damage Score |
0.1040 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (69/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
T |
A |
4: 153,470,929 (GRCm39) |
I293F |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,795,689 (GRCm39) |
|
probably benign |
Het |
| Aldh3b2 |
T |
C |
19: 4,029,350 (GRCm39) |
V241A |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Atpaf1 |
T |
A |
4: 115,652,635 (GRCm39) |
V12D |
probably damaging |
Het |
| Aurkb |
C |
A |
11: 68,936,822 (GRCm39) |
Y12* |
probably null |
Het |
| Bicdl1 |
A |
G |
5: 115,799,587 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,628,156 (GRCm39) |
|
probably benign |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Ccrl2 |
A |
G |
9: 110,885,036 (GRCm39) |
V154A |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,723,224 (GRCm39) |
Q2831K |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,280,554 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,441,047 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,312,134 (GRCm39) |
H4393R |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,938,775 (GRCm39) |
V408D |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,675 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,770,355 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Gm14178 |
T |
A |
11: 99,638,326 (GRCm39) |
T18S |
|
Het |
| H2bc12 |
G |
A |
13: 22,220,210 (GRCm39) |
D52N |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,860,106 (GRCm39) |
M324V |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,394,824 (GRCm39) |
V33E |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,065 (GRCm39) |
T298A |
probably benign |
Het |
| Hepacam |
A |
C |
9: 37,295,224 (GRCm39) |
|
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,408,639 (GRCm39) |
V68A |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,683,956 (GRCm39) |
E1079G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,235 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lrrtm2 |
G |
A |
18: 35,346,808 (GRCm39) |
R165C |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,271 (GRCm39) |
A3910E |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,361,252 (GRCm39) |
Y1521F |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,473,476 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,344,692 (GRCm39) |
W1260G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,624 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,515 (GRCm39) |
I43F |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,188,458 (GRCm39) |
R356C |
possibly damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,398,197 (GRCm39) |
D182E |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,459 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,340,778 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,559 (GRCm39) |
L996P |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,919,470 (GRCm39) |
|
probably benign |
Het |
| Sox1ot |
G |
T |
8: 12,480,455 (GRCm39) |
|
noncoding transcript |
Het |
| Spsb3 |
A |
T |
17: 25,110,358 (GRCm39) |
N395I |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Srd5a2 |
G |
T |
17: 74,331,516 (GRCm39) |
N160K |
probably damaging |
Het |
| Sting1 |
A |
G |
18: 35,868,154 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
G |
A |
5: 128,061,503 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,443 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,413,782 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,783,138 (GRCm39) |
Y201H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGAGTACCTTGCATAAGCAGC -3'
(R):5'- TTAGCCAGGGGTTTCCTCCAGAAC -3'
Sequencing Primer
(F):5'- GCAGCTCCATGTTTCATTAAGG -3'
(R):5'- cagaacaacaccaatctcagac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation