Incidental Mutation 'IGL01715:Sar1a'
| ID |
104924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sar1a
|
| Ensembl Gene |
ENSMUSG00000020088 |
| Gene Name |
secretion associated Ras related GTPase 1A |
| Synonyms |
1600019H17Rik, Sara1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
IGL01715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
61516096-61529076 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 61521406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020285]
[ENSMUST00000218474]
[ENSMUST00000219055]
[ENSMUST00000219506]
[ENSMUST00000220372]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020285
|
| SMART Domains |
Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088
| Domain | Start | End | E-Value | Type |
|---|
|
SAR
|
9 |
197 |
7.79e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220372
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,258,182 (GRCm39) |
N498D |
possibly damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,053,293 (GRCm39) |
S26P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,894,216 (GRCm39) |
Y473C |
probably benign |
Het |
| Cdc42ep4 |
C |
T |
11: 113,620,268 (GRCm39) |
G41D |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,115,101 (GRCm39) |
Y60N |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Drd3 |
T |
A |
16: 43,641,631 (GRCm39) |
L316M |
probably damaging |
Het |
| Hadha |
C |
T |
5: 30,325,082 (GRCm39) |
G703R |
probably damaging |
Het |
| Lrrc74a |
A |
C |
12: 86,801,189 (GRCm39) |
M347L |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,284,879 (GRCm39) |
Q4208K |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,877,847 (GRCm39) |
|
probably benign |
Het |
| Ndufa7 |
A |
T |
17: 34,057,122 (GRCm39) |
M101L |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,202,057 (GRCm39) |
V38A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,378 (GRCm39) |
T246A |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,617,272 (GRCm39) |
R43* |
probably null |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,196,218 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,788,054 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,925,358 (GRCm39) |
P1369S |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,307,105 (GRCm39) |
D110E |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,586 (GRCm39) |
Y184C |
probably benign |
Het |
|
| Other mutations in Sar1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01756:Sar1a
|
APN |
10 |
61,522,235 (GRCm39) |
missense |
probably benign |
|
|
IGL02070:Sar1a
|
APN |
10 |
61,520,673 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03355:Sar1a
|
APN |
10 |
61,520,718 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1033:Sar1a
|
UTSW |
10 |
61,521,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Sar1a
|
UTSW |
10 |
61,520,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3956:Sar1a
|
UTSW |
10 |
61,522,172 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5086:Sar1a
|
UTSW |
10 |
61,527,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Sar1a
|
UTSW |
10 |
61,520,851 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7505:Sar1a
|
UTSW |
10 |
61,527,073 (GRCm39) |
missense |
probably benign |
|
|
R8004:Sar1a
|
UTSW |
10 |
61,520,945 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8886:Sar1a
|
UTSW |
10 |
61,522,172 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2014-01-21 |
Incidental Mutation