Incidental Mutation 'R5760:Accs'
| ID |
445227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Accs
|
| Ensembl Gene |
ENSMUSG00000040272 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive) |
| Synonyms |
2610203E10Rik |
| MMRRC Submission |
043362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5760 (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 C
at 93676105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 90
(L90R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041593]
[ENSMUST00000068513]
[ENSMUST00000111246]
[ENSMUST00000130077]
|
| AlphaFold |
A2AIG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041593
AA Change: L90R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: L90R
| 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: L90R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: L90R
| 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: L113R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: L113R
| 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 damaging
Transcript: ENSMUST00000130077
AA Change: L90R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114687
Gene: ENSMUSG00000040272
AA Change: L90R
| 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: ENSMUST00000148268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146436
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150666
AA Change: L20R
|
| SMART Domains |
Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272
AA Change: L20R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b8ga_
|
2 |
72 |
7e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149073
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,835 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
C |
T |
1: 156,469,427 (GRCm39) |
T793M |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,990,926 (GRCm39) |
D4070V |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,520,100 (GRCm39) |
V475A |
probably benign |
Het |
| Atp10d |
T |
A |
5: 72,418,280 (GRCm39) |
V602E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,242,171 (GRCm39) |
V1088M |
probably damaging |
Het |
| Dennd6a |
A |
T |
14: 26,333,195 (GRCm39) |
I144L |
probably damaging |
Het |
| Dnajc6 |
G |
A |
4: 101,475,839 (GRCm39) |
A571T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,391 (GRCm39) |
I18T |
probably damaging |
Het |
| En2 |
C |
A |
5: 28,371,997 (GRCm39) |
A158D |
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,203,167 (GRCm39) |
G1219R |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm7535 |
C |
T |
17: 18,132,080 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
A |
T |
3: 98,787,748 (GRCm39) |
L227* |
probably null |
Het |
| Hdlbp |
C |
T |
1: 93,368,499 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,952,208 (GRCm39) |
K175E |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,304,580 (GRCm39) |
A3075T |
possibly damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,516 (GRCm39) |
I95N |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,802,537 (GRCm39) |
Q1001L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,009,052 (GRCm39) |
M151K |
probably benign |
Het |
| Lix1 |
T |
A |
17: 17,647,499 (GRCm39) |
V55D |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,407,677 (GRCm39) |
S179P |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
A |
C |
15: 73,693,356 (GRCm39) |
I28S |
probably damaging |
Het |
| Naip5 |
T |
G |
13: 100,379,346 (GRCm39) |
K231N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,073,830 (GRCm39) |
Y5683D |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,179,031 (GRCm39) |
H126Q |
probably benign |
Het |
| Npm2 |
A |
G |
14: 70,886,935 (GRCm39) |
F110L |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,149,772 (GRCm39) |
H319L |
probably damaging |
Het |
| Nup205 |
G |
A |
6: 35,224,278 (GRCm39) |
R2039Q |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,318 (GRCm39) |
A228S |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,418,922 (GRCm39) |
L185P |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,832,050 (GRCm39) |
T182P |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,453 (GRCm39) |
G811E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,143,778 (GRCm39) |
R3849S |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,655 (GRCm39) |
D317V |
probably damaging |
Het |
| Sall1 |
T |
C |
8: 89,755,278 (GRCm39) |
N1234D |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,961,741 (GRCm39) |
V1037D |
probably damaging |
Het |
| Slc12a8 |
G |
T |
16: 33,445,155 (GRCm39) |
E404* |
probably null |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,151,996 (GRCm39) |
V152A |
probably damaging |
Het |
| Tshz3 |
C |
A |
7: 36,470,994 (GRCm39) |
H994Q |
probably damaging |
Het |
| Ubash3b |
T |
G |
9: 40,988,719 (GRCm39) |
K62T |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,012 (GRCm39) |
D546E |
probably damaging |
Het |
| Zfp458 |
A |
C |
13: 67,405,853 (GRCm39) |
C192W |
probably damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,740 (GRCm39) |
H323L |
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 |
|
|
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 |
|
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'- TACCGTGGCAAAGGATTCAAG -3'
(R):5'- CCAGAGGTGGTATTTGGACG -3'
Sequencing Primer
(F):5'- GAAACCCCTCAAGCTGGTGATG -3'
(R):5'- TTTGAAACCTAGTGAGTGCCAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation