Incidental Mutation 'R6573:Gas2l3'
| ID |
526357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 89258072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000220128]
[ENSMUST00000220234]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099374
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
| 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 null
Transcript: ENSMUST00000105298
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
| 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 null
Transcript: ENSMUST00000220128
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220234
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfp317 |
T |
C |
9: 19,556,550 (GRCm39) |
S53P |
probably damaging |
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 |
|
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 |
|
R9063:Gas2l3
|
UTSW |
10 |
89,249,558 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2018-06-25 |
Incidental Mutation