Incidental Mutation 'IGL03375:Gas2l2'
| ID |
420469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gas2l2
|
| Ensembl Gene |
ENSMUSG00000020686 |
| Gene Name |
growth arrest-specific 2 like 2 |
| Synonyms |
OTTMUSG00000000934 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 83317036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052521]
[ENSMUST00000147301]
|
| AlphaFold |
Q5SSG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052521
|
| SMART Domains |
Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
CH
|
34 |
154 |
2.15e-15 |
SMART |
|
low complexity region
|
167 |
200 |
N/A |
INTRINSIC |
|
Pfam:GAS2
|
206 |
274 |
1.2e-35 |
PFAM |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147301
|
| SMART Domains |
Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
CH
|
34 |
154 |
2.15e-15 |
SMART |
|
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,519 (GRCm39) |
I180T |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,784,977 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,981,079 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,779,138 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,331,590 (GRCm39) |
T213I |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
probably damaging |
Het |
|
| Other mutations in Gas2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01860:Gas2l2
|
APN |
11 |
83,312,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02304:Gas2l2
|
APN |
11 |
83,315,064 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02672:Gas2l2
|
APN |
11 |
83,315,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Gas2l2
|
APN |
11 |
83,313,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Gas2l2
|
UTSW |
11 |
83,312,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Gas2l2
|
UTSW |
11 |
83,312,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Gas2l2
|
UTSW |
11 |
83,313,693 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0183:Gas2l2
|
UTSW |
11 |
83,319,882 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0383:Gas2l2
|
UTSW |
11 |
83,313,923 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1157:Gas2l2
|
UTSW |
11 |
83,314,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1439:Gas2l2
|
UTSW |
11 |
83,318,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Gas2l2
|
UTSW |
11 |
83,312,907 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2071:Gas2l2
|
UTSW |
11 |
83,312,775 (GRCm39) |
missense |
probably benign |
|
|
R2085:Gas2l2
|
UTSW |
11 |
83,318,209 (GRCm39) |
missense |
probably benign |
|
|
R2310:Gas2l2
|
UTSW |
11 |
83,318,265 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4619:Gas2l2
|
UTSW |
11 |
83,313,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4620:Gas2l2
|
UTSW |
11 |
83,313,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4655:Gas2l2
|
UTSW |
11 |
83,314,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4755:Gas2l2
|
UTSW |
11 |
83,320,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4897:Gas2l2
|
UTSW |
11 |
83,320,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Gas2l2
|
UTSW |
11 |
83,320,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Gas2l2
|
UTSW |
11 |
83,313,462 (GRCm39) |
nonsense |
probably null |
|
|
R7074:Gas2l2
|
UTSW |
11 |
83,313,893 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7179:Gas2l2
|
UTSW |
11 |
83,313,288 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7343:Gas2l2
|
UTSW |
11 |
83,312,816 (GRCm39) |
nonsense |
probably null |
|
|
R7554:Gas2l2
|
UTSW |
11 |
83,315,236 (GRCm39) |
nonsense |
probably null |
|
|
R7748:Gas2l2
|
UTSW |
11 |
83,313,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7772:Gas2l2
|
UTSW |
11 |
83,320,103 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7869:Gas2l2
|
UTSW |
11 |
83,312,816 (GRCm39) |
nonsense |
probably null |
|
|
R7953:Gas2l2
|
UTSW |
11 |
83,314,070 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8552:Gas2l2
|
UTSW |
11 |
83,312,907 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8768:Gas2l2
|
UTSW |
11 |
83,313,999 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9137:Gas2l2
|
UTSW |
11 |
83,315,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9396:Gas2l2
|
UTSW |
11 |
83,313,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9461:Gas2l2
|
UTSW |
11 |
83,313,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Gas2l2
|
UTSW |
11 |
83,314,170 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0021:Gas2l2
|
UTSW |
11 |
83,318,266 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2016-08-02 |
Incidental Mutation