Incidental Mutation 'R6767:Gas6'
ID 531983
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 044883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6767 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13515374-13544490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13515784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 663 (S663P)
Ref Sequence ENSEMBL: ENSMUSP00000033828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033828] [ENSMUST00000167071] [ENSMUST00000167505] [ENSMUST00000210804]
AlphaFold Q61592
Predicted Effect probably damaging
Transcript: ENSMUST00000033828
AA Change: S663P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451
AA Change: S663P

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000167071
SMART Domains Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457

DomainStartEndE-ValueType
Pfam:FAM70 1 68 8.2e-28 PFAM
Pfam:FAM70 66 307 1.8e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167505
SMART Domains Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457

DomainStartEndE-ValueType
Pfam:FAM70 6 328 6e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210804
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G A 8: 44,079,951 (GRCm39) T91I probably damaging Het
Ak7 A G 12: 105,732,866 (GRCm39) N537D probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Atp8a2 A G 14: 60,284,171 (GRCm39) F47S probably damaging Het
Cadps T A 14: 12,550,888 (GRCm38) T449S probably damaging Het
Ccdc33 C G 9: 57,940,527 (GRCm39) Q489H possibly damaging Het
Cd163 T G 6: 124,281,738 (GRCm39) S14A possibly damaging Het
Cemip G A 7: 83,647,832 (GRCm39) L83F probably damaging Het
Chrd C T 16: 20,557,376 (GRCm39) P665L probably benign Het
Cib4 T A 5: 30,691,589 (GRCm39) H44L probably benign Het
Clic1 T A 17: 35,272,029 (GRCm39) L99Q probably benign Het
Cnst C T 1: 179,437,519 (GRCm39) T361I possibly damaging Het
Dnah6 C A 6: 73,110,591 (GRCm39) V1613L probably benign Het
Dnajb8 T C 6: 88,199,634 (GRCm39) S57P probably damaging Het
Dyrk3 T C 1: 131,057,327 (GRCm39) H282R probably damaging Het
Fasn T C 11: 120,708,313 (GRCm39) I651V possibly damaging Het
Gbp8 T C 5: 105,166,478 (GRCm39) M284V probably benign Het
Gm12695 T C 4: 96,650,933 (GRCm39) probably null Het
Gm6034 T A 17: 36,354,023 (GRCm39) M1K probably null Het
Gm9376 A G 14: 118,504,648 (GRCm39) T27A unknown Het
Grid2 A G 6: 63,907,999 (GRCm39) D213G probably benign Het
Gsdma3 A T 11: 98,528,710 (GRCm39) D388V possibly damaging Het
H4c2 T A 13: 23,941,005 (GRCm39) M1K probably null Het
Hdac9 T A 12: 34,337,528 (GRCm39) H716L probably damaging Het
Hivep1 T C 13: 42,308,203 (GRCm39) S148P probably damaging Het
Kctd1 T C 18: 15,195,232 (GRCm39) T464A possibly damaging Het
Kera A G 10: 97,445,034 (GRCm39) D131G possibly damaging Het
Kif2c C T 4: 117,035,385 (GRCm39) R21Q probably benign Het
Luc7l3 G T 11: 94,183,779 (GRCm39) D453E probably damaging Het
Mrpl9 A G 3: 94,357,528 (GRCm39) probably benign Het
Mtss1 T C 15: 58,825,430 (GRCm39) S257G probably benign Het
N4bp2 T C 5: 65,974,530 (GRCm39) F1467L probably damaging Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Nrg1 T C 8: 32,407,923 (GRCm39) I103M probably damaging Het
Or2w1b C T 13: 21,300,227 (GRCm39) R122C probably benign Het
Orm3 C T 4: 63,274,531 (GRCm39) T32I probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Plch1 A T 3: 63,662,765 (GRCm39) M246K probably damaging Het
Pld4 A C 12: 112,730,549 (GRCm39) D144A possibly damaging Het
Prelp C A 1: 133,840,448 (GRCm39) V345L probably benign Het
Rnf121 A G 7: 101,672,619 (GRCm39) F238L probably damaging Het
Rnf40 A G 7: 127,195,757 (GRCm39) K667R possibly damaging Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Serpina3n T G 12: 104,375,321 (GRCm39) V131G probably benign Het
Slc22a21 T C 11: 53,870,328 (GRCm39) Y119C probably damaging Het
Slc22a28 A G 19: 8,094,409 (GRCm39) F204S probably damaging Het
Smc6 T A 12: 11,321,821 (GRCm39) D29E possibly damaging Het
Smgc T A 15: 91,725,601 (GRCm39) F40Y possibly damaging Het
Sorcs3 G T 19: 48,702,010 (GRCm39) L630F probably damaging Het
Sphk1 A G 11: 116,426,982 (GRCm39) K306E possibly damaging Het
Spmip2 A T 3: 79,337,330 (GRCm39) D46V probably benign Het
Spsb1 C T 4: 149,991,301 (GRCm39) G89D probably damaging Het
Stat4 G T 1: 52,115,742 (GRCm39) M227I probably benign Het
Syngr4 A G 7: 45,536,915 (GRCm39) V116A possibly damaging Het
Tacc1 T C 8: 25,730,816 (GRCm39) M1V probably null Het
Tcf7l1 T G 6: 72,608,275 (GRCm39) K355Q probably damaging Het
Tmem192 T C 8: 65,416,888 (GRCm39) S36P probably damaging Het
Top3a G T 11: 60,641,579 (GRCm39) N368K possibly damaging Het
Tpk1 T A 6: 43,323,727 (GRCm39) I241F possibly damaging Het
Trappc10 A G 10: 78,029,345 (GRCm39) I1064T possibly damaging Het
Vmn1r18 T A 6: 57,367,206 (GRCm39) K116M probably damaging Het
Vmn2r40 A T 7: 8,923,139 (GRCm39) H407Q unknown Het
Vmn2r91 T A 17: 18,327,807 (GRCm39) L467H probably damaging Het
Wdr59 G T 8: 112,202,733 (GRCm39) S603R probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp324 A C 7: 12,704,527 (GRCm39) K74N probably null Het
Zfyve16 A G 13: 92,644,707 (GRCm39) L1165P probably damaging Het
Other mutations in Gas6
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0023:Gas6 UTSW 8 13,520,344 (GRCm39) missense probably damaging 1.00
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
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'- ACACCCGTCCCATTATGTAC -3'
(R):5'- ACACATCCTGCAGAGTGTGG -3'

Sequencing Primer
(F):5'- ACCCGTCCCATTATGTACAGATATG -3'
(R):5'- TGGCCCTCAGCTATATGGAG -3'
Posted On 2018-08-29