Incidental Mutation 'R0043:Accs'
| ID |
16174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Accs
|
| Ensembl Gene |
ENSMUSG00000040272 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive) |
| Synonyms |
2610203E10Rik |
| MMRRC Submission |
038337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0043 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
93663812-93680288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93672230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 213
(Y213H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041593]
[ENSMUST00000068513]
[ENSMUST00000111246]
[ENSMUST00000130077]
|
| AlphaFold |
A2AIG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041593
AA Change: Y190H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: Y190H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
43 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
74 |
448 |
1.9e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068513
AA Change: Y190H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: Y190H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
43 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
74 |
448 |
1.9e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111246
AA Change: Y213H
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: Y213H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
66 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
97 |
471 |
2.1e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130077
|
| SMART Domains |
Protein: ENSMUSP00000114687
Gene: ENSMUSG00000040272
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
43 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
74 |
157 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150666
|
| SMART Domains |
Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b8ga_
|
2 |
72 |
7e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.1372 |
| Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
| Validation Efficiency |
90% (56/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,106,879 (GRCm39) |
L982P |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 46,460,917 (GRCm39) |
V651E |
probably benign |
Het |
| Cstf3 |
A |
T |
2: 104,475,430 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,362 (GRCm39) |
D2658G |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,586,029 (GRCm39) |
S240P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,005,574 (GRCm39) |
M3765I |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,874 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,826,101 (GRCm39) |
S304T |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,440,750 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,519 (GRCm39) |
L152P |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,556,678 (GRCm39) |
T694S |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,875,276 (GRCm39) |
G99W |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,495,196 (GRCm39) |
W448R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,811 (GRCm39) |
Y351* |
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,310 (GRCm39) |
D908G |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,391,053 (GRCm39) |
Y102C |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,179,764 (GRCm39) |
V1281A |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,764 (GRCm39) |
S794R |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,134,820 (GRCm39) |
V331E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,722,883 (GRCm39) |
I766F |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,638,002 (GRCm39) |
R277S |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,958,610 (GRCm39) |
|
probably benign |
Het |
| Ube2u |
G |
T |
4: 100,340,026 (GRCm39) |
V66F |
possibly damaging |
Het |
| Usp42 |
A |
C |
5: 143,700,465 (GRCm39) |
V1186G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,077,815 (GRCm39) |
I419T |
probably damaging |
Het |
|
| Other mutations in Accs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01514:Accs
|
APN |
2 |
93,669,587 (GRCm39) |
splice site |
probably benign |
|
|
IGL02704:Accs
|
APN |
2 |
93,673,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02724:Accs
|
APN |
2 |
93,676,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Accs
|
APN |
2 |
93,674,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4243001:Accs
|
UTSW |
2 |
93,671,679 (GRCm39) |
missense |
probably benign |
|
|
R0644:Accs
|
UTSW |
2 |
93,669,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Accs
|
UTSW |
2 |
93,678,448 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2215:Accs
|
UTSW |
2 |
93,672,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4755:Accs
|
UTSW |
2 |
93,671,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Accs
|
UTSW |
2 |
93,674,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Accs
|
UTSW |
2 |
93,672,228 (GRCm39) |
nonsense |
probably null |
|
|
R5287:Accs
|
UTSW |
2 |
93,666,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Accs
|
UTSW |
2 |
93,666,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Accs
|
UTSW |
2 |
93,676,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Accs
|
UTSW |
2 |
93,666,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Accs
|
UTSW |
2 |
93,669,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Accs
|
UTSW |
2 |
93,673,266 (GRCm39) |
missense |
probably null |
1.00 |
|
R7513:Accs
|
UTSW |
2 |
93,670,437 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7861:Accs
|
UTSW |
2 |
93,666,077 (GRCm39) |
makesense |
probably null |
|
|
R7947:Accs
|
UTSW |
2 |
93,674,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Accs
|
UTSW |
2 |
93,673,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8404:Accs
|
UTSW |
2 |
93,668,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8502:Accs
|
UTSW |
2 |
93,668,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Accs
|
UTSW |
2 |
93,668,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Accs
|
UTSW |
2 |
93,668,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Accs
|
UTSW |
2 |
93,666,093 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Accs
|
UTSW |
2 |
93,678,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-01-08 |
Incidental Mutation