Incidental Mutation 'R8705:Gas6'
ID 669235
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 068559-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8705 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13515374-13544490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13525156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 276 (D276G)
Ref Sequence ENSEMBL: ENSMUSP00000033828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033828]
AlphaFold Q61592
Predicted Effect probably damaging
Transcript: ENSMUST00000033828
AA Change: D276G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451
AA Change: D276G

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
Meta Mutation Damage Score 0.1256 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (36/37)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 G T 13: 4,484,447 (GRCm39) G20W probably damaging Het
Ces1c A G 8: 93,857,518 (GRCm39) L21P probably benign Het
Col11a2 G T 17: 34,268,769 (GRCm39) G394V unknown Het
Cyp2c70 A G 19: 40,168,948 (GRCm39) V113A probably benign Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Fras1 A T 5: 96,839,260 (GRCm39) D1593V probably benign Het
Frzb G A 2: 80,277,241 (GRCm39) probably benign Het
Gdf7 C T 12: 8,348,167 (GRCm39) E377K probably damaging Het
Ggnbp2 A G 11: 84,753,132 (GRCm39) F36L possibly damaging Het
Gm40460 A T 7: 141,794,734 (GRCm39) C28S unknown Het
Hnrnpd A G 5: 100,111,588 (GRCm39) probably benign Het
Hsd17b11 G A 5: 104,140,703 (GRCm39) L265F probably benign Het
Hyal6 G A 6: 24,734,673 (GRCm39) R202H probably benign Het
Igkv5-43 A G 6: 69,800,592 (GRCm39) S32P probably benign Het
Kank1 A G 19: 25,388,907 (GRCm39) Y860C probably damaging Het
Krt79 G A 15: 101,846,441 (GRCm39) T169M probably damaging Het
Lama5 C T 2: 179,820,354 (GRCm39) C3296Y probably damaging Het
Ly75 A T 2: 60,148,729 (GRCm39) I1200K probably damaging Het
Myo1b A T 1: 51,902,495 (GRCm39) Y78* probably null Het
Napb A G 2: 148,542,396 (GRCm39) V188A probably benign Het
Neb T C 2: 52,148,795 (GRCm39) Y2584C probably damaging Het
Or52e8 T C 7: 104,624,446 (GRCm39) I253V possibly damaging Het
P4htm G A 9: 108,457,240 (GRCm39) A381V probably damaging Het
Pcdha8 T A 18: 37,126,906 (GRCm39) F463I probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phip T C 9: 82,775,612 (GRCm39) T1030A probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Prrc2a A G 17: 35,372,542 (GRCm39) S1700P possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Sf3b5 G T 10: 12,884,554 (GRCm39) R63L probably damaging Het
Sh3rf1 T C 8: 61,802,591 (GRCm39) L308P probably damaging Het
Slc7a2 A T 8: 41,368,032 (GRCm39) T599S probably damaging Het
Sox5 T C 6: 143,987,012 (GRCm39) N184S possibly damaging Het
Traf3 A G 12: 111,208,938 (GRCm39) E119G possibly damaging Het
Trim24 T C 6: 37,880,588 (GRCm39) probably benign Het
Ubxn11 A T 4: 133,853,551 (GRCm39) I368F probably damaging Het
Vmn2r27 C T 6: 124,207,188 (GRCm39) G151D probably damaging Het
Wfdc16 T A 2: 164,480,395 (GRCm39) R33S possibly damaging Het
Zfp654 A G 16: 64,605,433 (GRCm39) V382A possibly 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
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
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'- TTCTCTCAGAGGTGGAGCTG -3'
(R):5'- AATCAGAACCCTGGTCCCTG -3'

Sequencing Primer
(F):5'- TGAGGTCCTGGATCAGCTCTC -3'
(R):5'- AGGCACCGACATGAGCTG -3'
Posted On 2021-04-30