Incidental Mutation 'IGL03248:Accsl'
ID |
414502 |
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 # |
IGL03248
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
93685706-93699502 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 93693129 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: 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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably 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 |
IGL02511:Accsl
|
APN |
2 |
93,692,111 (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 |
2016-08-02 |