Incidental Mutation 'IGL02511:Accsl'
| ID |
296572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Accsl
|
| Ensembl Gene |
ENSMUSG00000075023 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive)-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
93685706-93699502 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 93692111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099690]
[ENSMUST00000133562]
[ENSMUST00000143033]
|
| AlphaFold |
Q3UX83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099690
|
| SMART Domains |
Protein: ENSMUSP00000097281
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
190 |
568 |
6.9e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132722
|
| SMART Domains |
Protein: ENSMUSP00000121623
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gdea_
|
2 |
79 |
4e-10 |
SMART |
|
PDB:1IAY|A
|
16 |
58 |
3e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133562
|
| SMART Domains |
Protein: ENSMUSP00000120924
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143033
|
| SMART Domains |
Protein: ENSMUSP00000118053
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,185,192 (GRCm39) |
D502V |
probably damaging |
Het |
| Adss2 |
T |
C |
1: 177,598,700 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
T |
A |
11: 5,610,845 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,873,615 (GRCm39) |
S692P |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,684,498 (GRCm39) |
M1T |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn1 |
A |
T |
15: 92,114,266 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,835,757 (GRCm39) |
F218Y |
probably benign |
Het |
| Dll4 |
G |
A |
2: 119,156,947 (GRCm39) |
G73E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,757,343 (GRCm39) |
M897V |
possibly damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,039,653 (GRCm39) |
R816G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,208,894 (GRCm39) |
L83P |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,115,059 (GRCm39) |
S238P |
probably damaging |
Het |
| Fermt1 |
A |
C |
2: 132,775,086 (GRCm39) |
|
probably benign |
Het |
| Gm6619 |
T |
A |
6: 131,467,330 (GRCm39) |
I65K |
possibly damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,518 (GRCm39) |
C117S |
possibly damaging |
Het |
| Ksr1 |
T |
C |
11: 78,936,046 (GRCm39) |
D106G |
possibly damaging |
Het |
| Lgr4 |
A |
T |
2: 109,841,617 (GRCm39) |
Y534F |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,356,095 (GRCm39) |
T118A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,723,975 (GRCm39) |
I170N |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,115,743 (GRCm39) |
S53P |
probably benign |
Het |
| Npl |
T |
A |
1: 153,391,227 (GRCm39) |
D176V |
probably damaging |
Het |
| Nrm |
T |
C |
17: 36,172,316 (GRCm39) |
S14P |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,995,265 (GRCm39) |
F313I |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,840,870 (GRCm39) |
M1V |
probably null |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 127,888,070 (GRCm39) |
|
probably benign |
Het |
| Pdzd4 |
T |
A |
X: 72,838,206 (GRCm39) |
M701L |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,143,731 (GRCm39) |
V3865E |
possibly damaging |
Het |
| Plxna3 |
C |
A |
X: 73,378,991 (GRCm39) |
Q712K |
probably damaging |
Het |
| Pon1 |
A |
G |
6: 5,193,724 (GRCm39) |
L9P |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,435,718 (GRCm39) |
I83F |
probably benign |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,226 (GRCm39) |
W212* |
probably null |
Het |
| Slc38a9 |
C |
A |
13: 112,834,541 (GRCm39) |
D239E |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,860,859 (GRCm39) |
F479L |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,297,251 (GRCm39) |
S48P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,768,034 (GRCm39) |
M3022L |
unknown |
Het |
| Tulp1 |
C |
A |
17: 28,575,142 (GRCm39) |
R441L |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,585 (GRCm39) |
F128L |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,420 (GRCm39) |
V686A |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,475,884 (GRCm39) |
|
probably null |
Het |
| Ushbp1 |
T |
C |
8: 71,843,581 (GRCm39) |
M286V |
probably null |
Het |
| Usp51 |
T |
G |
X: 151,791,726 (GRCm39) |
I440R |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 109,738,483 (GRCm39) |
R532L |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,243 (GRCm39) |
E1467G |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,150,602 (GRCm39) |
V269A |
possibly damaging |
Het |
|
| Other mutations in Accsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02336:Accsl
|
APN |
2 |
93,696,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03248:Accsl
|
APN |
2 |
93,693,129 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03338:Accsl
|
APN |
2 |
93,686,092 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0323:Accsl
|
UTSW |
2 |
93,691,425 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0449:Accsl
|
UTSW |
2 |
93,696,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1172:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1173:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1752:Accsl
|
UTSW |
2 |
93,688,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Accsl
|
UTSW |
2 |
93,689,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Accsl
|
UTSW |
2 |
93,689,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2878:Accsl
|
UTSW |
2 |
93,689,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4472:Accsl
|
UTSW |
2 |
93,694,337 (GRCm39) |
splice site |
probably null |
|
|
R4472:Accsl
|
UTSW |
2 |
93,694,336 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5400:Accsl
|
UTSW |
2 |
93,689,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5502:Accsl
|
UTSW |
2 |
93,687,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5610:Accsl
|
UTSW |
2 |
93,692,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5636:Accsl
|
UTSW |
2 |
93,699,370 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5799:Accsl
|
UTSW |
2 |
93,694,748 (GRCm39) |
splice site |
probably null |
|
|
R6376:Accsl
|
UTSW |
2 |
93,687,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Accsl
|
UTSW |
2 |
93,696,488 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7311:Accsl
|
UTSW |
2 |
93,696,160 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7564:Accsl
|
UTSW |
2 |
93,688,501 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7731:Accsl
|
UTSW |
2 |
93,691,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7835:Accsl
|
UTSW |
2 |
93,696,329 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Accsl
|
UTSW |
2 |
93,686,086 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8305:Accsl
|
UTSW |
2 |
93,696,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Accsl
|
UTSW |
2 |
93,693,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Accsl
|
UTSW |
2 |
93,696,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8954:Accsl
|
UTSW |
2 |
93,688,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9172:Accsl
|
UTSW |
2 |
93,691,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Accsl
|
UTSW |
2 |
93,686,092 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9513:Accsl
|
UTSW |
2 |
93,699,498 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Accsl
|
UTSW |
2 |
93,696,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation