Incidental Mutation 'R0046:Gas2l2'
ID |
15934 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l2
|
Ensembl Gene |
ENSMUSG00000020686 |
Gene Name |
growth arrest-specific 2 like 2 |
Synonyms |
OTTMUSG00000000934 |
MMRRC Submission |
038340-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0046 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83312736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 859
(W859R)
|
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: W859R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051907 Gene: ENSMUSG00000020686 AA Change: W859R
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 |
|
Meta Mutation Damage Score |
0.0783 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.2%
- 10x: 78.3%
- 20x: 64.0%
|
Validation Efficiency |
98% (86/88) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
Auts2 |
T |
C |
5: 131,799,624 (GRCm39) |
|
noncoding transcript |
Het |
B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
Elmo2 |
T |
A |
2: 165,140,646 (GRCm39) |
N275I |
probably damaging |
Het |
Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
Gm19410 |
A |
G |
8: 36,269,799 (GRCm39) |
E1148G |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,353,605 (GRCm39) |
V591I |
probably benign |
Het |
Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
Ly75 |
A |
T |
2: 60,169,801 (GRCm39) |
|
probably benign |
Het |
Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
Pfas |
G |
T |
11: 68,881,293 (GRCm39) |
R1025S |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
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 |
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 |
2013-01-08 |