Incidental Mutation 'R0472:Gas2l3'
| ID |
46831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l3
|
| Ensembl Gene |
ENSMUSG00000074802 |
| Gene Name |
growth arrest-specific 2 like 3 |
| Synonyms |
LOC237436, 8430435B07Rik |
| MMRRC Submission |
038672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R0472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
89244685-89279829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89262339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 128
(A128T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099374]
[ENSMUST00000105298]
[ENSMUST00000218764]
[ENSMUST00000219351]
[ENSMUST00000220071]
[ENSMUST00000220128]
[ENSMUST00000220234]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099374
AA Change: A128T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096973
Gene: ENSMUSG00000074802
AA Change: A128T
| 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 damaging
Transcript: ENSMUST00000105298
AA Change: A128T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100935
Gene: ENSMUSG00000074802
AA Change: A128T
| 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: ENSMUST00000218764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220071
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220128
AA Change: A128T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220234
AA Change: A128T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1641 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (65/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,222,123 (GRCm39) |
|
noncoding transcript |
Het |
| AI182371 |
T |
C |
2: 34,975,218 (GRCm39) |
N337S |
probably benign |
Het |
| Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,864,002 (GRCm39) |
F541L |
probably damaging |
Het |
| Asap2 |
G |
T |
12: 21,263,186 (GRCm39) |
R267L |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
| C1ra |
T |
A |
6: 124,494,403 (GRCm39) |
D283E |
possibly damaging |
Het |
| Cacul1 |
G |
T |
19: 60,531,464 (GRCm39) |
H268Q |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,449,396 (GRCm39) |
N49D |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,867,744 (GRCm39) |
H193R |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,387,317 (GRCm39) |
G1935E |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,790,469 (GRCm39) |
I1362N |
probably damaging |
Het |
| Chchd7 |
A |
T |
4: 3,943,416 (GRCm39) |
N61I |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,733,106 (GRCm39) |
L134Q |
probably damaging |
Het |
| Clec2j |
T |
C |
6: 128,633,565 (GRCm39) |
|
noncoding transcript |
Het |
| Clvs1 |
G |
A |
4: 9,281,801 (GRCm39) |
A82T |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,825,486 (GRCm39) |
Y231F |
possibly damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,823 (GRCm39) |
T254S |
probably benign |
Het |
| Decr1 |
A |
G |
4: 15,919,849 (GRCm39) |
S290P |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,636,015 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,888,437 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
G |
2: 165,140,250 (GRCm39) |
I315T |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,884,775 (GRCm39) |
F431L |
probably benign |
Het |
| Fez2 |
A |
G |
17: 78,692,261 (GRCm39) |
|
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,001,602 (GRCm39) |
I222M |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,472,139 (GRCm39) |
N1548S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,832 (GRCm39) |
D471G |
probably benign |
Het |
| Kcnj13 |
T |
A |
1: 87,314,568 (GRCm39) |
Y218F |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,719 (GRCm39) |
H1763R |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,688 (GRCm39) |
R451H |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,866,863 (GRCm39) |
V2877A |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,685 (GRCm39) |
M80L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,438,768 (GRCm39) |
V343A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,486,987 (GRCm39) |
S58R |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,258 (GRCm39) |
C175* |
probably null |
Het |
| Or5w20 |
T |
A |
2: 87,726,837 (GRCm39) |
V98E |
possibly damaging |
Het |
| Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
| Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
| Pask |
A |
T |
1: 93,248,639 (GRCm39) |
D920E |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Ptpn21 |
G |
A |
12: 98,670,499 (GRCm39) |
|
probably benign |
Het |
| Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
| Rsad2 |
T |
G |
12: 26,504,167 (GRCm39) |
I121L |
possibly damaging |
Het |
| Sergef |
T |
G |
7: 46,283,170 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,434 (GRCm39) |
I92V |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,638,364 (GRCm39) |
S456P |
possibly damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,055 (GRCm39) |
|
probably null |
Het |
| Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,150,485 (GRCm39) |
V465A |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,300 (GRCm39) |
Q711L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,783,385 (GRCm39) |
R869H |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,509 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
C |
A |
6: 57,338,304 (GRCm39) |
M20I |
probably benign |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,831,518 (GRCm39) |
V424I |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,417,779 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
A |
5: 102,105,309 (GRCm39) |
A173S |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,213,629 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,120 (GRCm39) |
F450I |
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 |
|
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 |
|
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'- TCTGACAGCCAACTTGAGAGAATGC -3'
(R):5'- AGATGCTTTGTCATTACCAGGCCAC -3'
Sequencing Primer
(F):5'- CCCATTAAAATAAGGGAAAGGCTTAC -3'
(R):5'- GGATTAAAGAAGCTTGACTCTACCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation