Incidental Mutation 'IGL02695:Gas2l2'
| ID |
303880 |
| 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 # |
IGL02695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83313468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 615
(I615F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021022]
[ENSMUST00000052521]
[ENSMUST00000108140]
[ENSMUST00000147301]
[ENSMUST00000164425]
[ENSMUST00000175848]
|
| AlphaFold |
Q5SSG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021022
|
| SMART Domains |
Protein: ENSMUSP00000021022
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052521
AA Change: I615F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: I615F
| 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: ENSMUST00000108140
|
| SMART Domains |
Protein: ENSMUSP00000103775
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164425
|
| SMART Domains |
Protein: ENSMUSP00000132696
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
178 |
6.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175848
|
| SMART Domains |
Protein: ENSMUSP00000135803
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
120 |
2.3e-12 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
8.2e-13 |
PFAM |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,645 (GRCm39) |
E1013G |
probably damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
| Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
| Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,673,435 (GRCm39) |
D251G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
| Gnaz |
T |
C |
10: 74,827,974 (GRCm39) |
|
probably null |
Het |
| Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
| Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
| Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
| Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
| Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
| Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,678 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,817,739 (GRCm39) |
Y536F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
| Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
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 |
|
IGL03375:Gas2l2
|
APN |
11 |
83,317,036 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation