Incidental Mutation 'IGL01860:Gas2l2'
ID |
178271 |
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 # |
IGL01860
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83312906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 802
(T802I)
|
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 benign
Transcript: ENSMUST00000052521
AA Change: T802I
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000051907 Gene: ENSMUSG00000020686 AA Change: T802I
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
Cept1 |
A |
G |
3: 106,438,444 (GRCm39) |
|
probably benign |
Het |
Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,861,417 (GRCm39) |
M1051T |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
Kcnc1 |
T |
C |
7: 46,077,554 (GRCm39) |
L452P |
probably damaging |
Het |
Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
Trpv5 |
T |
A |
6: 41,637,229 (GRCm39) |
H419L |
probably damaging |
Het |
Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,965,698 (GRCm39) |
Y334C |
probably damaging |
Het |
Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
possibly damaging |
Het |
|
Other mutations in Gas2l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |