Incidental Mutation 'R0183:Gas2l2'
| ID |
23903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l2
|
| Ensembl Gene |
ENSMUSG00000020686 |
| Gene Name |
growth arrest-specific 2 like 2 |
| Synonyms |
OTTMUSG00000000934 |
| MMRRC Submission |
038448-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0183 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83319882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 125
(M125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052521]
[ENSMUST00000147301]
|
| AlphaFold |
Q5SSG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052521
AA Change: M125L
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: M125L
| 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
AA Change: M125L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686
AA Change: M125L
| 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 |
|
| Meta Mutation Damage Score |
0.1445 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
84% (42/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
T |
5: 77,034,082 (GRCm39) |
D490N |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,401,251 (GRCm39) |
|
probably null |
Het |
| Amer3 |
T |
A |
1: 34,626,838 (GRCm39) |
I359K |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,684,811 (GRCm39) |
D79E |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,958,172 (GRCm39) |
E1026D |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Card14 |
C |
T |
11: 119,217,524 (GRCm39) |
R386C |
probably damaging |
Het |
| Cenpb |
T |
C |
2: 131,020,373 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
G |
A |
7: 7,298,090 (GRCm39) |
Q40* |
probably null |
Het |
| Clec16a |
T |
C |
16: 10,377,886 (GRCm39) |
Y28H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,790 (GRCm39) |
S393P |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,265,722 (GRCm39) |
D194G |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,059,906 (GRCm39) |
V2841I |
probably damaging |
Het |
| Eaf1 |
T |
A |
14: 31,217,272 (GRCm39) |
L16Q |
probably damaging |
Het |
| Eef1e1 |
C |
T |
13: 38,840,162 (GRCm39) |
A48T |
probably damaging |
Het |
| Exoc3l |
C |
A |
8: 106,021,932 (GRCm39) |
R57L |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,807 (GRCm39) |
N593S |
probably benign |
Het |
| Fosb |
A |
G |
7: 19,041,310 (GRCm39) |
I61T |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,229,579 (GRCm39) |
I127L |
possibly damaging |
Het |
| Gcnt1 |
C |
T |
19: 17,306,481 (GRCm39) |
D415N |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,024,997 (GRCm39) |
M531T |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,656,589 (GRCm39) |
K256M |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
| Jkamp |
T |
C |
12: 72,140,809 (GRCm39) |
I118T |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,991,749 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,558,120 (GRCm39) |
D317E |
probably damaging |
Het |
| Lipo2 |
A |
T |
19: 33,726,951 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
T |
A |
10: 125,846,061 (GRCm39) |
I830K |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,454,015 (GRCm39) |
I1429T |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,606 (GRCm39) |
L184F |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,872 (GRCm39) |
T424I |
possibly damaging |
Het |
| Mrps23 |
A |
G |
11: 88,100,980 (GRCm39) |
E57G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,333 (GRCm39) |
T1282A |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,675 (GRCm39) |
D309G |
probably benign |
Het |
| Or8k1 |
T |
A |
2: 86,047,173 (GRCm39) |
S294C |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,801,214 (GRCm39) |
N75S |
probably damaging |
Het |
| Pink1 |
T |
G |
4: 138,041,490 (GRCm39) |
H477P |
probably damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,169,990 (GRCm39) |
C835Y |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,257,973 (GRCm39) |
I295T |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,664,274 (GRCm39) |
S421P |
probably benign |
Het |
| Ptpn6 |
A |
G |
6: 124,705,914 (GRCm39) |
S77P |
probably damaging |
Het |
| Ptpre |
G |
T |
7: 135,271,574 (GRCm39) |
M389I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,578,599 (GRCm39) |
D158G |
probably damaging |
Het |
| Sec14l3 |
C |
T |
11: 4,025,547 (GRCm39) |
S357L |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,716,445 (GRCm39) |
D323E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,919,186 (GRCm39) |
K396N |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,824,309 (GRCm39) |
V94E |
probably damaging |
Het |
| Trim24 |
T |
A |
6: 37,920,415 (GRCm39) |
I404N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGAGGTGGAGAACCTGATGC -3'
(R):5'- CCCATTGAATCAAGGAGAACTGGGC -3'
Sequencing Primer
(F):5'- GGAGAACCTGATGCTTCTCTAAG -3'
(R):5'- GACCTTGACTAGCAGGTAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation