Incidental Mutation 'R8502:Accs'
| ID |
655357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Accs
|
| Ensembl Gene |
ENSMUSG00000040272 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive) |
| Synonyms |
2610203E10Rik |
| MMRRC Submission |
067839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
93663812-93680288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93668460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 337
(Y337C)
|
| 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: Y314C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: Y314C
| 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: Y314C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: Y314C
| 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: Y337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: Y337C
| 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 |
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,219,282 (GRCm39) |
D405E |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
| Ahrr |
A |
T |
13: 74,431,193 (GRCm39) |
Y10N |
probably damaging |
Het |
| Akap12 |
T |
G |
10: 4,263,856 (GRCm39) |
D88E |
probably benign |
Het |
| Akr1c18 |
G |
A |
13: 4,192,188 (GRCm39) |
R170C |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,537,887 (GRCm39) |
V1211A |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,130,773 (GRCm39) |
M129K |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,181,165 (GRCm39) |
W774R |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,335,210 (GRCm39) |
M932V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,679,520 (GRCm39) |
S322P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,206,373 (GRCm39) |
D907G |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,966 (GRCm39) |
K416E |
probably damaging |
Het |
| Ints6 |
G |
C |
14: 62,998,028 (GRCm39) |
T27R |
possibly damaging |
Het |
| Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
| N4bp2l2 |
T |
G |
5: 150,585,821 (GRCm39) |
N53T |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,317,162 (GRCm39) |
M1K |
probably null |
Het |
| Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
| Or52a5 |
T |
C |
7: 103,426,968 (GRCm39) |
I195V |
probably benign |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
| Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Rspo3 |
T |
C |
10: 29,375,970 (GRCm39) |
T198A |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
| Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
| Tcl1b2 |
T |
A |
12: 105,113,367 (GRCm39) |
Y7N |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,459,353 (GRCm39) |
G103W |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,512,893 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,471,845 (GRCm39) |
T191S |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
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 |
|
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 |
|
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'- GAGCAAGTCCTTGTGCATGC -3'
(R):5'- TGAGACATGAGACCCAGTTTTATCC -3'
Sequencing Primer
(F):5'- AAGTCCTTGTGCATGCCAACC -3'
(R):5'- ATGAGACCCAGTTTTATCCATCTATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation