Incidental Mutation 'R6820:Accs'
ID |
537551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Accs
|
Ensembl Gene |
ENSMUSG00000040272 |
Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive) |
Synonyms |
2610203E10Rik |
MMRRC Submission |
044932-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6820 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
93663812-93680288 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93673266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 141
(N141Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041593]
[ENSMUST00000068513]
[ENSMUST00000111246]
[ENSMUST00000130077]
|
AlphaFold |
A2AIG8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041593
AA Change: N141Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036268 Gene: ENSMUSG00000040272 AA Change: N141Y
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 null
Transcript: ENSMUST00000068513
AA Change: N141Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065389 Gene: ENSMUSG00000040272 AA Change: N141Y
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 null
Transcript: ENSMUST00000111246
AA Change: N164Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106877 Gene: ENSMUSG00000040272 AA Change: N164Y
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 null
Transcript: ENSMUST00000130077
AA Change: N141Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114687 Gene: ENSMUSG00000040272 AA Change: N141Y
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 |
|
SMART Domains |
Protein: ENSMUSP00000119096 Gene: ENSMUSG00000040272 AA Change: N71Y
Domain | Start | End | E-Value | Type |
SCOP:d1b8ga_
|
2 |
72 |
7e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chkb |
A |
G |
15: 89,312,379 (GRCm39) |
L46P |
probably damaging |
Het |
Col9a3 |
G |
A |
2: 180,248,927 (GRCm39) |
V260M |
probably damaging |
Het |
Dna2 |
T |
C |
10: 62,800,683 (GRCm39) |
I739T |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,959,826 (GRCm39) |
H2620R |
probably damaging |
Het |
Dsel |
A |
G |
1: 111,787,547 (GRCm39) |
V996A |
probably damaging |
Het |
Dst |
T |
C |
1: 34,250,337 (GRCm39) |
L1757S |
probably damaging |
Het |
Exoc5 |
A |
T |
14: 49,286,387 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
T |
13: 49,034,468 (GRCm39) |
V1048E |
possibly damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fbxw19 |
T |
A |
9: 109,311,079 (GRCm39) |
T377S |
probably benign |
Het |
Fbxw28 |
A |
T |
9: 109,167,493 (GRCm39) |
F88Y |
probably damaging |
Het |
Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
Gtsf1 |
T |
C |
15: 103,328,954 (GRCm39) |
T92A |
probably benign |
Het |
Hoxc13 |
A |
G |
15: 102,830,257 (GRCm39) |
Y212C |
probably damaging |
Het |
Itih2 |
T |
C |
2: 10,102,909 (GRCm39) |
I742V |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,174,965 (GRCm39) |
T351A |
probably damaging |
Het |
Mlh3 |
T |
C |
12: 85,294,497 (GRCm39) |
D1233G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,982,756 (GRCm39) |
D1525G |
probably damaging |
Het |
Nme5 |
T |
C |
18: 34,704,626 (GRCm39) |
Y73C |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,969,086 (GRCm39) |
V957A |
probably damaging |
Het |
Nup153 |
A |
G |
13: 46,863,459 (GRCm39) |
S301P |
probably benign |
Het |
Obscn |
T |
C |
11: 58,942,019 (GRCm39) |
D5013G |
probably damaging |
Het |
Or4f54 |
C |
T |
2: 111,123,455 (GRCm39) |
P281S |
probably damaging |
Het |
Or5p51 |
A |
G |
7: 107,444,298 (GRCm39) |
V214A |
probably benign |
Het |
Or8g51 |
A |
G |
9: 38,608,771 (GRCm39) |
V297A |
possibly damaging |
Het |
Pak1 |
A |
G |
7: 97,535,586 (GRCm39) |
N226D |
probably benign |
Het |
Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
Pkp3 |
T |
C |
7: 140,659,757 (GRCm39) |
|
probably null |
Het |
Prxl2b |
A |
T |
4: 154,982,623 (GRCm39) |
D50E |
probably damaging |
Het |
Psd |
G |
T |
19: 46,309,283 (GRCm39) |
A558E |
probably damaging |
Het |
Psmd14 |
C |
A |
2: 61,607,068 (GRCm39) |
H172N |
probably benign |
Het |
Pygb |
G |
T |
2: 150,658,674 (GRCm39) |
W366L |
possibly damaging |
Het |
Rbm39 |
A |
T |
2: 156,021,146 (GRCm39) |
M1K |
probably null |
Het |
Rnf213 |
T |
C |
11: 119,339,664 (GRCm39) |
I3421T |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Smg6 |
T |
C |
11: 74,932,790 (GRCm39) |
V88A |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,762,504 (GRCm39) |
E80G |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,341,583 (GRCm39) |
V243A |
probably damaging |
Het |
Tmem215 |
T |
C |
4: 40,473,926 (GRCm39) |
M1T |
probably null |
Het |
Tpm2 |
A |
G |
4: 43,518,443 (GRCm39) |
Y221H |
probably damaging |
Het |
Ubap1 |
C |
T |
4: 41,379,854 (GRCm39) |
P356L |
probably benign |
Het |
Wbp2nl |
G |
T |
15: 82,197,996 (GRCm39) |
A178S |
possibly damaging |
Het |
Wdr54 |
A |
T |
6: 83,131,601 (GRCm39) |
S139T |
probably benign |
Het |
Wipi2 |
G |
C |
5: 142,615,555 (GRCm39) |
Q14H |
probably benign |
Het |
Zan |
T |
C |
5: 137,406,106 (GRCm39) |
|
probably benign |
Het |
Zfp735 |
A |
G |
11: 73,579,783 (GRCm39) |
M1V |
probably null |
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 |
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'- CCAAGCTGATTTCTGGGCAC -3'
(R):5'- GCTGAAGTGGAGATAAATGTCTGC -3'
Sequencing Primer
(F):5'- CACCTTGCTCTTGATTAAGGGAATG -3'
(R):5'- ATAAATGTCTGCTACTTTGGGAAGG -3'
|
Posted On |
2018-10-18 |