Incidental Mutation 'R1157:Gas2l2'
ID |
101819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l2
|
Ensembl Gene |
ENSMUSG00000020686 |
Gene Name |
growth arrest-specific 2 like 2 |
Synonyms |
OTTMUSG00000000934 |
MMRRC Submission |
039230-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1157 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83314154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 386
(P386L)
|
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: P386L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000051907 Gene: ENSMUSG00000020686 AA Change: P386L
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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 |
Adamtsl4 |
C |
A |
3: 95,590,971 (GRCm39) |
S332I |
possibly damaging |
Het |
Alpl |
A |
G |
4: 137,481,331 (GRCm39) |
V107A |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,976,349 (GRCm39) |
F442L |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,832,037 (GRCm39) |
M733K |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,390,650 (GRCm39) |
C1061S |
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,815,587 (GRCm39) |
V90M |
possibly damaging |
Het |
Ergic1 |
T |
A |
17: 26,833,369 (GRCm39) |
L41Q |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Gm21726 |
T |
C |
13: 90,731,724 (GRCm39) |
|
noncoding transcript |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,646,366 (GRCm39) |
V771A |
possibly damaging |
Het |
Klhl29 |
T |
C |
12: 5,140,650 (GRCm39) |
N664S |
possibly damaging |
Het |
Krit1 |
T |
C |
5: 3,882,176 (GRCm39) |
Y659H |
probably damaging |
Het |
Lap3 |
T |
A |
5: 45,664,490 (GRCm39) |
D373E |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,865,892 (GRCm39) |
I1283T |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,912,031 (GRCm39) |
Y1843C |
probably benign |
Het |
Mapre1 |
T |
A |
2: 153,599,937 (GRCm39) |
D120E |
probably benign |
Het |
Mgp |
A |
T |
6: 136,850,204 (GRCm39) |
M44K |
possibly damaging |
Het |
Mrps25 |
A |
T |
6: 92,160,947 (GRCm39) |
M3K |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,434,456 (GRCm39) |
|
probably null |
Het |
Nedd9 |
C |
T |
13: 41,467,979 (GRCm39) |
|
probably null |
Het |
Or52e4 |
A |
G |
7: 104,706,091 (GRCm39) |
I213V |
probably benign |
Het |
Or6c8b |
T |
G |
10: 128,882,027 (GRCm39) |
T302P |
probably benign |
Het |
Or7c19 |
G |
T |
8: 85,957,889 (GRCm39) |
C255F |
probably damaging |
Het |
Pate12 |
G |
A |
9: 36,344,143 (GRCm39) |
C42Y |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,219,820 (GRCm39) |
V65A |
possibly damaging |
Het |
Pip5k1a |
G |
A |
3: 94,985,423 (GRCm39) |
T60I |
probably benign |
Het |
Rp9 |
A |
T |
9: 22,370,036 (GRCm39) |
Y44N |
probably damaging |
Het |
Tcea1 |
T |
A |
1: 4,959,670 (GRCm39) |
|
probably null |
Het |
Trim33 |
C |
T |
3: 103,261,146 (GRCm39) |
T1098I |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,529,314 (GRCm39) |
I263F |
possibly damaging |
Het |
Wdr12 |
A |
T |
1: 60,117,389 (GRCm39) |
S402R |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,186,282 (GRCm39) |
S771G |
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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |