Incidental Mutation 'R5791:Gas6'
ID 446975
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 043207-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13515374-13544490 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 13520217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033828]
AlphaFold Q61592
Predicted Effect probably null
Transcript: ENSMUST00000033828
SMART Domains Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451

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 noncoding transcript
Transcript: ENSMUST00000209950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211356
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown 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
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'- ATGGCTAACATGTGAGGTCC -3'
(R):5'- GAGTCAGTCACCTGTCTTTCCAG -3'

Sequencing Primer
(F):5'- CTAACATGTGAGGTCCAGGCAG -3'
(R):5'- AGATTAACCCTCGCCTGGATG -3'
Posted On 2016-12-15