Incidental Mutation 'R7074:Gas2l2'
ID |
549112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l2
|
Ensembl Gene |
ENSMUSG00000020686 |
Gene Name |
growth arrest-specific 2 like 2 |
Synonyms |
OTTMUSG00000000934 |
MMRRC Submission |
045242-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7074 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83313893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 473
(Q473L)
|
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: Q473L
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000051907 Gene: ENSMUSG00000020686 AA Change: Q473L
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,340,433 (GRCm39) |
I53L |
probably benign |
Het |
Acss2 |
T |
C |
2: 155,363,961 (GRCm39) |
L80P |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,184,363 (GRCm39) |
F546I |
probably benign |
Het |
Adtrp |
A |
T |
13: 41,981,617 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
T |
2: 128,520,194 (GRCm39) |
P208T |
probably damaging |
Het |
Ankrd33 |
A |
G |
15: 101,017,430 (GRCm39) |
K281R |
probably benign |
Het |
Bcl11b |
A |
G |
12: 107,955,766 (GRCm39) |
S128P |
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,794,200 (GRCm39) |
K265E |
possibly damaging |
Het |
Cep72 |
A |
G |
13: 74,199,699 (GRCm39) |
C244R |
probably benign |
Het |
Cope |
A |
G |
8: 70,765,537 (GRCm39) |
Q303R |
probably benign |
Het |
Cpd |
T |
A |
11: 76,704,420 (GRCm39) |
N398I |
probably damaging |
Het |
Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
Dixdc1 |
T |
A |
9: 50,601,214 (GRCm39) |
E344D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,833,445 (GRCm39) |
F1951I |
unknown |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Faap24 |
A |
T |
7: 35,094,527 (GRCm39) |
I91K |
possibly damaging |
Het |
Fubp3 |
T |
C |
2: 31,485,306 (GRCm39) |
S107P |
probably damaging |
Het |
Ghr |
A |
T |
15: 3,362,873 (GRCm39) |
Y200N |
probably damaging |
Het |
Gm4950 |
G |
A |
18: 51,998,521 (GRCm39) |
Q145* |
probably null |
Het |
Gm826 |
C |
T |
2: 160,153,810 (GRCm39) |
V78I |
unknown |
Het |
Gnas |
G |
A |
2: 174,126,842 (GRCm39) |
E126K |
probably damaging |
Het |
Grip2 |
A |
T |
6: 91,761,689 (GRCm39) |
V235E |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,681,178 (GRCm39) |
H88R |
probably benign |
Het |
Htr7 |
A |
G |
19: 36,034,283 (GRCm39) |
V124A |
probably damaging |
Het |
Igf2r |
T |
A |
17: 12,933,003 (GRCm39) |
I840F |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,204,574 (GRCm39) |
I961V |
possibly damaging |
Het |
Jmy |
A |
T |
13: 93,590,439 (GRCm39) |
S555T |
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,977 (GRCm39) |
G227S |
probably damaging |
Het |
Lao1 |
A |
C |
4: 118,825,382 (GRCm39) |
T401P |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,152,511 (GRCm39) |
V547I |
probably benign |
Het |
Mttp |
C |
A |
3: 137,813,034 (GRCm39) |
R532L |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
Myo18a |
T |
A |
11: 77,733,387 (GRCm39) |
D1409E |
probably benign |
Het |
Ncor2 |
T |
A |
5: 125,126,430 (GRCm39) |
R554* |
probably null |
Het |
Or14j6 |
T |
A |
17: 38,214,718 (GRCm39) |
Y94N |
possibly damaging |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,975 (GRCm39) |
H153L |
probably benign |
Het |
Or2b11 |
T |
C |
11: 59,461,835 (GRCm39) |
T244A |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,348,855 (GRCm39) |
I272F |
possibly damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,475 (GRCm39) |
M308T |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,022,147 (GRCm39) |
Y213H |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,236 (GRCm39) |
K306* |
probably null |
Het |
Psd2 |
A |
G |
18: 36,143,737 (GRCm39) |
E681G |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,105,362 (GRCm39) |
N276I |
probably damaging |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,214,359 (GRCm39) |
V214A |
probably damaging |
Het |
Spag5 |
T |
C |
11: 78,195,868 (GRCm39) |
|
probably null |
Het |
Trem3 |
C |
T |
17: 48,556,909 (GRCm39) |
R127W |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,748,425 (GRCm39) |
T4208I |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 89,004,839 (GRCm39) |
F260S |
probably damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,654 (GRCm39) |
D190V |
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,724,859 (GRCm39) |
I174V |
possibly damaging |
Het |
Zfp423 |
G |
A |
8: 88,509,060 (GRCm39) |
T428I |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,030,454 (GRCm39) |
N1162I |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,042,255 (GRCm39) |
M8V |
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 |
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 |
|
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'- AGAGTGATGCCCATGTGTG -3'
(R):5'- AGAGGAAGGACTCCCACATTG -3'
Sequencing Primer
(F):5'- GATCTATCCAGGTTCCCTTCGAGG -3'
(R):5'- CCACATTGTGGGTTCACA -3'
|
Posted On |
2019-05-15 |