Incidental Mutation 'R7652:Gas8'
ID 590920
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 045729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R7652 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124245573-124263389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124253275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 208 (I208V)
Ref Sequence ENSEMBL: ENSMUSP00000090730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect probably benign
Transcript: ENSMUST00000093043
AA Change: I208V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220
AA Change: I208V

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
coiled coil region 26 105 N/A INTRINSIC
coiled coil region 164 199 N/A INTRINSIC
Pfam:GAS 221 420 1.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212923
AA Change: I208V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,253,675 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Anxa2r2 A T 13: 120,488,529 (GRCm39) S7T possibly damaging Het
Aph1b T C 9: 66,691,823 (GRCm39) T195A probably benign Het
Apoe G T 7: 19,430,535 (GRCm39) R236S possibly damaging Het
Arap3 G T 18: 38,111,505 (GRCm39) T1137K probably damaging Het
Arhgap45 C T 10: 79,864,672 (GRCm39) A908V probably benign Het
Atp13a1 T C 8: 70,258,209 (GRCm39) C965R probably damaging Het
C7 A G 15: 5,041,587 (GRCm39) Y440H probably damaging Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Ddah2 C A 17: 35,280,026 (GRCm39) R173S possibly damaging Het
Dnajc11 T C 4: 152,058,682 (GRCm39) Y337H probably damaging Het
Dnajc25 A G 4: 59,020,483 (GRCm39) K302R probably benign Het
Dnajc6 A T 4: 101,463,874 (GRCm39) Q209L probably damaging Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Ebf2 G T 14: 67,628,016 (GRCm39) probably null Het
Epx A G 11: 87,766,160 (GRCm39) probably null Het
Eqtn T C 4: 94,816,574 (GRCm39) Y73C probably damaging Het
Fam107b A G 2: 3,773,884 (GRCm39) N21S probably benign Het
Fasn G A 11: 120,707,154 (GRCm39) S857F probably damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Gm3269 T C 14: 16,026,209 (GRCm39) I88T probably benign Het
Gm8005 C A 14: 42,258,919 (GRCm39) L136F Het
Grid2ip C A 5: 143,368,393 (GRCm39) P743Q probably damaging Het
H2-T15 A T 17: 36,367,675 (GRCm39) V221D probably damaging Het
Hbs1l C T 10: 21,240,659 (GRCm39) T626I probably benign Het
Hdac3 T A 18: 38,087,972 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,496,400 (GRCm39) Y94C probably damaging Het
Homer2 T C 7: 81,299,414 (GRCm39) D17G probably damaging Het
Ikbke C T 1: 131,199,569 (GRCm39) R308Q probably damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Klhl3 G A 13: 58,261,146 (GRCm39) probably benign Het
Klk1b9 A T 7: 43,445,514 (GRCm39) T235S probably benign Het
Kmt2c T C 5: 25,520,717 (GRCm39) T1798A probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Krtap4-6 T C 11: 99,556,440 (GRCm39) I96V unknown Het
Lef1 A C 3: 130,994,003 (GRCm39) R354S probably damaging Het
Lrp6 A T 6: 134,488,208 (GRCm39) L296* probably null Het
Maml2 T C 9: 13,532,945 (GRCm39) Y720H Het
Mmrn1 A G 6: 60,954,490 (GRCm39) N924D probably benign Het
Myh7b A G 2: 155,474,156 (GRCm39) K1624E probably damaging Het
Nos3 T A 5: 24,588,610 (GRCm39) V1112D probably damaging Het
Or2y14 T C 11: 49,404,512 (GRCm39) F16L probably damaging Het
Or4c111 C T 2: 88,843,893 (GRCm39) V172I probably benign Het
Or5an1b C A 19: 12,299,651 (GRCm39) C180F probably damaging Het
Or5w13 A G 2: 87,523,704 (GRCm39) I174T probably damaging Het
Or6c70 A T 10: 129,710,346 (GRCm39) N93K probably damaging Het
Phospho1 T C 11: 95,721,645 (GRCm39) L105S probably damaging Het
Prss35 T A 9: 86,638,023 (GRCm39) N264K probably benign Het
Ptpn13 A G 5: 103,677,578 (GRCm39) D732G probably benign Het
Rab18 A T 18: 6,783,123 (GRCm39) T64S possibly damaging Het
Rft1 A G 14: 30,399,773 (GRCm39) Q319R probably benign Het
Rgs7 T A 1: 174,921,396 (GRCm39) M220L probably benign Het
Rnf13 A G 3: 57,671,772 (GRCm39) N28S probably benign Het
Setd3 A T 12: 108,078,548 (GRCm39) I311N probably damaging Het
Setd5 G A 6: 113,098,725 (GRCm39) R786H probably damaging Het
Slc26a6 T C 9: 108,733,143 (GRCm39) probably null Het
Slc26a9 A T 1: 131,691,634 (GRCm39) T626S probably benign Het
Stambp A T 6: 83,540,910 (GRCm39) probably null Het
Stom A T 2: 35,206,041 (GRCm39) N229K probably benign Het
Tlr1 A T 5: 65,084,130 (GRCm39) L149* probably null Het
Trpc3 C A 3: 36,692,677 (GRCm39) V772F probably benign Het
Ube3a A G 7: 58,893,102 (GRCm39) probably benign Het
Ugt2b35 T A 5: 87,149,369 (GRCm39) F207I probably damaging Het
Usp53 A T 3: 122,746,884 (GRCm39) D360E possibly damaging Het
Vmn2r96 T G 17: 18,793,832 (GRCm39) S59A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Wnt3 A G 11: 103,703,290 (GRCm39) T258A possibly damaging Het
Zfp729b T C 13: 67,739,371 (GRCm39) T965A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Gas8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0689:Gas8 UTSW 8 124,250,845 (GRCm39) missense probably damaging 1.00
R1552:Gas8 UTSW 8 124,247,385 (GRCm39) missense probably benign 0.00
R2068:Gas8 UTSW 8 124,253,276 (GRCm39) missense probably damaging 0.96
R4722:Gas8 UTSW 8 124,252,374 (GRCm39) missense possibly damaging 0.88
R4840:Gas8 UTSW 8 124,257,753 (GRCm39) missense probably benign 0.25
R5424:Gas8 UTSW 8 124,253,251 (GRCm39) missense possibly damaging 0.58
R6511:Gas8 UTSW 8 124,250,896 (GRCm39) missense probably benign 0.00
R6520:Gas8 UTSW 8 124,253,213 (GRCm39) missense probably benign 0.03
R7318:Gas8 UTSW 8 124,257,707 (GRCm39) missense probably benign
R7398:Gas8 UTSW 8 124,245,690 (GRCm39) start codon destroyed probably null 0.09
R7623:Gas8 UTSW 8 124,249,718 (GRCm39) missense probably damaging 0.96
R8507:Gas8 UTSW 8 124,257,777 (GRCm39) critical splice donor site probably null
R9026:Gas8 UTSW 8 124,260,134 (GRCm39) missense probably benign 0.03
R9563:Gas8 UTSW 8 124,263,179 (GRCm39) missense possibly damaging 0.79
R9564:Gas8 UTSW 8 124,263,179 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- ACTTGCAGGGAAAGCTCCAC -3'
(R):5'- TTCTAGAACACCCCACCGTG -3'

Sequencing Primer
(F):5'- GCACCGCTATAGGTTCCAC -3'
(R):5'- CACCTTGAGGGAGTTGAT -3'
Posted On 2019-10-24