Incidental Mutation 'R2168:Gas2l3'
| ID |
235616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
040171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R2168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89249960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 386
(V386A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100935
(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: V386A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: V386A
| 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: V386A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: V386A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
| Als2cl |
C |
A |
9: 110,717,810 (GRCm39) |
P301H |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
| Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
| F2 |
C |
T |
2: 91,458,693 (GRCm39) |
R539Q |
probably damaging |
Het |
| Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
| Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
| Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
| Itsn2 |
G |
T |
12: 4,683,044 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
| Msh4 |
A |
T |
3: 153,573,472 (GRCm39) |
Y533* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
| Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
| Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
| Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
| Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
| Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
| Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,994,887 (GRCm39) |
C503R |
probably damaging |
Het |
| Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
probably null |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AGACAGATCTCTTGAATTCTGGGC -3'
(R):5'- CAGAAATGAACCCTTTGTCAGC -3'
Sequencing Primer
(F):5'- ATCTCTTGAATTCTGGGCTGGAATAG -3'
(R):5'- GAACCCTTTGTCAGCAGTTAATATG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation