Incidental Mutation 'R9063:Gas2l3'
ID |
689101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gas2l3
|
Ensembl Gene |
ENSMUSG00000074802 |
Gene Name |
growth arrest-specific 2 like 3 |
Synonyms |
LOC237436, 8430435B07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R9063 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89249558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 520
(I520T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000220128]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099374
AA Change: I520T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096973 Gene: ENSMUSG00000074802 AA Change: I520T
Domain | Start | End | E-Value | Type |
CH
|
52 |
166 |
1.71e-9 |
SMART |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Pfam:GAS2
|
215 |
284 |
1.8e-29 |
PFAM |
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105298
AA Change: I520T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100935 Gene: ENSMUSG00000074802 AA Change: I520T
Domain | Start | End | E-Value | Type |
CH
|
52 |
166 |
1.71e-9 |
SMART |
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
Pfam:GAS2
|
213 |
286 |
1.5e-31 |
PFAM |
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220128
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display partial postnatal lethality with none surviving past 4 months, dilated cardiomyopathy, cardiac interstitial fibrosis, and premature binucleation of cardiomyocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
T |
G |
7: 115,703,660 (GRCm39) |
S178A |
probably benign |
Het |
Add3 |
T |
C |
19: 53,222,302 (GRCm39) |
L303P |
probably damaging |
Het |
Agr2 |
T |
A |
12: 36,053,898 (GRCm39) |
*176K |
probably null |
Het |
Apobr |
C |
T |
7: 126,185,920 (GRCm39) |
T477I |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,838,536 (GRCm39) |
V336M |
probably damaging |
Het |
Cep63 |
T |
G |
9: 102,496,227 (GRCm39) |
H18P |
unknown |
Het |
Copa |
A |
G |
1: 171,944,529 (GRCm39) |
D838G |
probably benign |
Het |
Cspg4 |
G |
T |
9: 56,795,687 (GRCm39) |
V1141L |
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,497,002 (GRCm39) |
T146A |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,866,264 (GRCm39) |
I206L |
probably benign |
Het |
Emsy |
C |
T |
7: 98,295,684 (GRCm39) |
D73N |
probably damaging |
Het |
Esr2 |
A |
T |
12: 76,168,590 (GRCm39) |
Y540N |
probably benign |
Het |
Exoc7 |
C |
A |
11: 116,180,101 (GRCm39) |
V668L |
probably benign |
Het |
Fcgbp |
C |
T |
7: 27,791,277 (GRCm39) |
T846I |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,153,772 (GRCm39) |
E418G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,238,346 (GRCm39) |
R1467C |
possibly damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,280 (GRCm39) |
C232R |
probably benign |
Het |
Gpr61 |
T |
C |
3: 108,057,555 (GRCm39) |
R369G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,122,429 (GRCm39) |
Y423C |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Jmy |
T |
C |
13: 93,635,580 (GRCm39) |
R79G |
probably benign |
Het |
Kcnn4 |
T |
A |
7: 24,076,934 (GRCm39) |
V161E |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,833,706 (GRCm39) |
I1040N |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,654 (GRCm39) |
L543S |
probably damaging |
Het |
Kpna2 |
A |
G |
11: 106,883,489 (GRCm39) |
I81T |
probably benign |
Het |
Krt12 |
A |
G |
11: 99,307,757 (GRCm39) |
S444P |
probably benign |
Het |
Lmnb2 |
C |
T |
10: 80,742,005 (GRCm39) |
V29M |
probably benign |
Het |
Lmod2 |
T |
C |
6: 24,603,364 (GRCm39) |
V113A |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,231,838 (GRCm39) |
T1211A |
|
Het |
Lrrc8d |
T |
C |
5: 105,961,959 (GRCm39) |
S790P |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,482,878 (GRCm39) |
V613A |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,653 (GRCm39) |
N142S |
probably benign |
Het |
Mgll |
G |
A |
6: 88,802,690 (GRCm39) |
V282I |
possibly damaging |
Het |
Mief2 |
G |
A |
11: 60,622,314 (GRCm39) |
E295K |
probably damaging |
Het |
Mmrn2 |
A |
T |
14: 34,120,567 (GRCm39) |
H479L |
probably benign |
Het |
Myh15 |
T |
A |
16: 48,913,118 (GRCm39) |
N358K |
probably benign |
Het |
Mzf1 |
T |
G |
7: 12,787,005 (GRCm39) |
K101Q |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,964,253 (GRCm39) |
L401Q |
probably damaging |
Het |
Nck2 |
T |
C |
1: 43,593,503 (GRCm39) |
C237R |
possibly damaging |
Het |
Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
Nol11 |
A |
G |
11: 107,064,240 (GRCm39) |
V524A |
probably benign |
Het |
Nol11 |
T |
C |
11: 107,069,857 (GRCm39) |
Y331C |
possibly damaging |
Het |
Nsmf |
A |
T |
2: 24,952,622 (GRCm39) |
H149L |
probably benign |
Het |
Olfm3 |
T |
C |
3: 114,914,582 (GRCm39) |
V231A |
probably benign |
Het |
Or1l4b |
A |
T |
2: 37,036,646 (GRCm39) |
M141L |
probably benign |
Het |
Or51a6 |
A |
G |
7: 102,604,446 (GRCm39) |
S121P |
probably benign |
Het |
Or55b4 |
T |
C |
7: 102,133,931 (GRCm39) |
Y132C |
probably damaging |
Het |
Pcdhgb5 |
T |
A |
18: 37,864,739 (GRCm39) |
F178Y |
probably damaging |
Het |
Plk2 |
T |
A |
13: 110,532,920 (GRCm39) |
S160R |
possibly damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ppp1cc |
A |
G |
5: 122,306,279 (GRCm39) |
N33D |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,218,693 (GRCm39) |
E499G |
possibly damaging |
Het |
Pwp1 |
A |
G |
10: 85,720,431 (GRCm39) |
H356R |
probably benign |
Het |
Rbsn |
G |
T |
6: 92,171,000 (GRCm39) |
T307K |
probably benign |
Het |
Rnf19a |
G |
A |
15: 36,265,615 (GRCm39) |
Q161* |
probably null |
Het |
Scin |
T |
C |
12: 40,134,336 (GRCm39) |
D236G |
possibly damaging |
Het |
Setd1a |
G |
A |
7: 127,385,558 (GRCm39) |
R755H |
possibly damaging |
Het |
Sik3 |
C |
T |
9: 46,123,735 (GRCm39) |
T1178I |
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,590,103 (GRCm39) |
L433P |
probably damaging |
Het |
Tex26 |
C |
T |
5: 149,393,826 (GRCm39) |
R272C |
probably damaging |
Het |
Trim60 |
T |
A |
8: 65,453,465 (GRCm39) |
K261N |
possibly damaging |
Het |
Tspan9 |
A |
G |
6: 127,944,072 (GRCm39) |
I76T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,588,833 (GRCm39) |
Y21412F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,710,907 (GRCm39) |
I8409N |
unknown |
Het |
Unc80 |
T |
C |
1: 66,645,816 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
T |
1: 187,995,457 (GRCm39) |
Q76L |
probably benign |
Het |
Usp1 |
G |
A |
4: 98,819,389 (GRCm39) |
V284I |
probably benign |
Het |
Usp31 |
A |
G |
7: 121,306,466 (GRCm39) |
V4A |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,648,329 (GRCm39) |
|
probably benign |
Het |
Zfp959 |
G |
A |
17: 56,204,221 (GRCm39) |
R86K |
probably benign |
Het |
|
Other mutations in Gas2l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Gas2l3
|
APN |
10 |
89,249,489 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01148:Gas2l3
|
APN |
10 |
89,249,366 (GRCm39) |
missense |
probably benign |
0.25 |
R0472:Gas2l3
|
UTSW |
10 |
89,262,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Gas2l3
|
UTSW |
10 |
89,252,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0720:Gas2l3
|
UTSW |
10 |
89,249,805 (GRCm39) |
missense |
probably benign |
0.00 |
R1386:Gas2l3
|
UTSW |
10 |
89,250,215 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1470:Gas2l3
|
UTSW |
10 |
89,249,796 (GRCm39) |
missense |
probably benign |
|
R1470:Gas2l3
|
UTSW |
10 |
89,249,796 (GRCm39) |
missense |
probably benign |
|
R1530:Gas2l3
|
UTSW |
10 |
89,269,631 (GRCm39) |
missense |
probably benign |
0.02 |
R1733:Gas2l3
|
UTSW |
10 |
89,250,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Gas2l3
|
UTSW |
10 |
89,252,876 (GRCm39) |
unclassified |
probably benign |
|
R1840:Gas2l3
|
UTSW |
10 |
89,258,113 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2168:Gas2l3
|
UTSW |
10 |
89,249,960 (GRCm39) |
missense |
probably benign |
0.01 |
R3082:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R3083:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4639:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4641:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4642:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4643:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4644:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4645:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4809:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4810:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4820:Gas2l3
|
UTSW |
10 |
89,252,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4853:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4855:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4865:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4900:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4906:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4926:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R4946:Gas2l3
|
UTSW |
10 |
89,249,634 (GRCm39) |
missense |
probably benign |
|
R5072:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5073:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5074:Gas2l3
|
UTSW |
10 |
89,266,820 (GRCm39) |
small deletion |
probably benign |
|
R5137:Gas2l3
|
UTSW |
10 |
89,249,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Gas2l3
|
UTSW |
10 |
89,249,928 (GRCm39) |
missense |
probably benign |
|
R5919:Gas2l3
|
UTSW |
10 |
89,252,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Gas2l3
|
UTSW |
10 |
89,258,072 (GRCm39) |
splice site |
probably null |
|
R6763:Gas2l3
|
UTSW |
10 |
89,249,231 (GRCm39) |
missense |
probably benign |
0.00 |
R6961:Gas2l3
|
UTSW |
10 |
89,249,153 (GRCm39) |
missense |
probably benign |
0.00 |
R7491:Gas2l3
|
UTSW |
10 |
89,249,763 (GRCm39) |
missense |
probably benign |
0.02 |
R7707:Gas2l3
|
UTSW |
10 |
89,250,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7806:Gas2l3
|
UTSW |
10 |
89,249,232 (GRCm39) |
missense |
probably benign |
0.00 |
R8167:Gas2l3
|
UTSW |
10 |
89,262,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R8781:Gas2l3
|
UTSW |
10 |
89,266,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R8862:Gas2l3
|
UTSW |
10 |
89,250,282 (GRCm39) |
missense |
probably damaging |
0.97 |
R9119:Gas2l3
|
UTSW |
10 |
89,249,319 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9258:Gas2l3
|
UTSW |
10 |
89,262,315 (GRCm39) |
missense |
probably benign |
0.18 |
R9574:Gas2l3
|
UTSW |
10 |
89,258,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R9640:Gas2l3
|
UTSW |
10 |
89,266,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9702:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R9703:Gas2l3
|
UTSW |
10 |
89,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCGGCAGACACCCTTAC -3'
(R):5'- CAAGAGATCTGTCTAAGTCCAGAC -3'
Sequencing Primer
(F):5'- GCAGACACCCTTACTCTGAGGTTG -3'
(R):5'- GTAAATCTCCTGGAAAAATGGAACC -3'
|
Posted On |
2021-11-19 |