Incidental Mutation 'IGL02931:Gas6'
ID 364106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas6
Ensembl Gene ENSMUSG00000031451
Gene Name growth arrest specific 6
Synonyms growth arrest-specific, Gas-6, GAS 6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02931
Quality Score
Status
Chromosome 8
Chromosomal Location 13515374-13544490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13527136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 204 (C204F)
Ref Sequence ENSEMBL: ENSMUSP00000033828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033828]
AlphaFold Q61592
Predicted Effect probably damaging
Transcript: ENSMUST00000033828
AA Change: C204F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033828
Gene: ENSMUSG00000031451
AA Change: C204F

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
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L probably benign 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
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
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
Posted On 2015-12-18