Incidental Mutation 'R0644:Accs'
| ID |
56989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Accs
|
| Ensembl Gene |
ENSMUSG00000040272 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive) |
| Synonyms |
2610203E10Rik |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
93663812-93680288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93669574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 282
(L282P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041593]
[ENSMUST00000068513]
[ENSMUST00000111246]
[ENSMUST00000130077]
|
| AlphaFold |
A2AIG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041593
AA Change: L259P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: L259P
| 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 damaging
Transcript: ENSMUST00000068513
AA Change: L259P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: L259P
| 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 damaging
Transcript: ENSMUST00000111246
AA Change: L282P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: L282P
| 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: ENSMUST00000149073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146045
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
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 |
|
|
R0043:Accs
|
UTSW |
2 |
93,672,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTGCTGGGACCTTCGTCTATC -3'
(R):5'- TGTGTGCAGCCTCCCATTTGTG -3'
Sequencing Primer
(F):5'- gatgggtgggtgggtgg -3'
(R):5'- GCCTCCCATTTGTGAAAATATAGACC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation