Incidental Mutation 'R0023:Gas6'
| ID |
64827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas6
|
| Ensembl Gene |
ENSMUSG00000031451 |
| Gene Name |
growth arrest specific 6 |
| Synonyms |
growth arrest-specific, Gas-6, GAS 6 |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
97 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13515374-13544490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13520344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 448
(L448R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033828]
|
| AlphaFold |
Q61592 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033828
AA Change: L448R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451
AA Change: L448R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
GLA
|
26 |
90 |
6.66e-30 |
SMART |
|
EGF
|
116 |
151 |
3.97e0 |
SMART |
|
EGF_CA
|
153 |
193 |
3.1e-11 |
SMART |
|
EGF_CA
|
194 |
234 |
1.91e-11 |
SMART |
|
EGF_CA
|
235 |
275 |
1.25e-6 |
SMART |
|
LamG
|
314 |
450 |
2.71e-24 |
SMART |
|
LamG
|
502 |
647 |
1.27e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211356
|
| Meta Mutation Damage Score |
0.5492 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice are protected against arterial and venous thrombosis, and though platelet aggregation is impaired, spontaneous or excess trauma-induced bleeding is not observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Ang4 |
G |
T |
14: 52,001,860 (GRCm39) |
Y29* |
probably null |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Bpifa3 |
A |
C |
2: 153,980,070 (GRCm39) |
H234P |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,185 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Crip3 |
A |
G |
17: 46,741,920 (GRCm39) |
K136E |
probably damaging |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,726 (GRCm39) |
S367P |
probably damaging |
Het |
| Dhrs11 |
A |
T |
11: 84,713,976 (GRCm39) |
L125H |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,758,834 (GRCm39) |
|
probably benign |
Het |
| Eif2ak4 |
A |
C |
2: 118,293,202 (GRCm39) |
S1253R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,079 (GRCm39) |
T449A |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,374,563 (GRCm39) |
S2358P |
possibly damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,412 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,485,197 (GRCm39) |
R399* |
probably null |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Knl1 |
C |
T |
2: 118,933,030 (GRCm39) |
T2063I |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,527,697 (GRCm39) |
V9A |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,412 (GRCm39) |
R693W |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,044,900 (GRCm39) |
F247L |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Rpl21-ps6 |
T |
C |
17: 56,222,536 (GRCm39) |
|
noncoding transcript |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
T |
A |
2: 126,755,213 (GRCm39) |
|
probably null |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,932,498 (GRCm39) |
T1075S |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,912 (GRCm39) |
C169* |
probably null |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Ulk3 |
C |
A |
9: 57,497,639 (GRCm39) |
C4* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,997 (GRCm39) |
T272S |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,787 (GRCm39) |
N304I |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
Het |
|
| Other mutations in Gas6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Gas6
|
APN |
8 |
13,526,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01100:Gas6
|
APN |
8 |
13,525,118 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02014:Gas6
|
APN |
8 |
13,518,359 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02931:Gas6
|
APN |
8 |
13,527,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0497:Gas6
|
UTSW |
8 |
13,520,387 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1126:Gas6
|
UTSW |
8 |
13,533,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1597:Gas6
|
UTSW |
8 |
13,543,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Gas6
|
UTSW |
8 |
13,515,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Gas6
|
UTSW |
8 |
13,515,902 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1914:Gas6
|
UTSW |
8 |
13,527,152 (GRCm39) |
missense |
probably benign |
|
|
R1967:Gas6
|
UTSW |
8 |
13,520,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2012:Gas6
|
UTSW |
8 |
13,518,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Gas6
|
UTSW |
8 |
13,520,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Gas6
|
UTSW |
8 |
13,516,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4750:Gas6
|
UTSW |
8 |
13,526,227 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4869:Gas6
|
UTSW |
8 |
13,525,086 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5558:Gas6
|
UTSW |
8 |
13,516,764 (GRCm39) |
missense |
probably null |
0.03 |
|
R5706:Gas6
|
UTSW |
8 |
13,527,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5791:Gas6
|
UTSW |
8 |
13,520,217 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6767:Gas6
|
UTSW |
8 |
13,515,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6825:Gas6
|
UTSW |
8 |
13,533,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7374:Gas6
|
UTSW |
8 |
13,524,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7419:Gas6
|
UTSW |
8 |
13,521,456 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7588:Gas6
|
UTSW |
8 |
13,516,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7810:Gas6
|
UTSW |
8 |
13,516,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Gas6
|
UTSW |
8 |
13,520,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8527:Gas6
|
UTSW |
8 |
13,515,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8705:Gas6
|
UTSW |
8 |
13,525,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Gas6
|
UTSW |
8 |
13,520,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Gas6
|
UTSW |
8 |
13,525,048 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9672:Gas6
|
UTSW |
8 |
13,528,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Gas6
|
UTSW |
8 |
13,521,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACTGGTACTCACGGAGACAGG -3'
(R):5'- CGTAAGCATGTGGTTAAGCTGGGAC -3'
Sequencing Primer
(F):5'- ATGGATCTTATACTTCAGCCTACAGC -3'
(R):5'- CTTACACAGTCAGGTGGCAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation