Incidental Mutation 'R8507:Gas8'
ID 655639
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 067843-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R8507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124245573-124263389 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 124257777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect probably null
Transcript: ENSMUST00000093043
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220

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 null
Transcript: ENSMUST00000093043
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,763,773 (GRCm39) C126R probably damaging Het
Agpat5 G A 8: 18,928,043 (GRCm39) V203I possibly damaging Het
Ankrd12 T A 17: 66,293,904 (GRCm39) R510* probably null Het
Anxa6 C T 11: 54,904,696 (GRCm39) A22T probably benign Het
Barx2 A T 9: 31,770,309 (GRCm39) L73Q probably damaging Het
BC024139 T C 15: 76,004,333 (GRCm39) K702R possibly damaging Het
Cc2d1a T C 8: 84,861,605 (GRCm39) K739R probably benign Het
Cdk12 A G 11: 98,141,111 (GRCm39) T1451A unknown Het
Chd7 A G 4: 8,858,675 (GRCm39) E2367G probably damaging Het
Cp A G 3: 20,025,193 (GRCm39) Y384C probably damaging Het
Dnah14 T A 1: 181,468,979 (GRCm39) W1270R probably benign Het
Dyrk2 G T 10: 118,696,567 (GRCm39) S230R probably damaging Het
Epn3 A T 11: 94,384,602 (GRCm39) S290R probably damaging Het
Fas C T 19: 34,304,626 (GRCm39) R296C probably benign Het
Fmnl1 A T 11: 103,084,859 (GRCm39) N659I unknown Het
Gpr156 A G 16: 37,768,598 (GRCm39) T40A probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Itgal C T 7: 126,928,607 (GRCm39) T1044I probably benign Het
Itprid2 A G 2: 79,475,208 (GRCm39) Q389R probably benign Het
Kcnip4 T G 5: 48,639,997 (GRCm39) D38A possibly damaging Het
Kcnma1 G T 14: 23,641,706 (GRCm39) Q216K probably benign Het
Kdsr T A 1: 106,671,400 (GRCm39) E203V probably null Het
Lrp1b T C 2: 41,298,387 (GRCm39) E999G Het
Malt1 T A 18: 65,603,594 (GRCm39) W577R probably damaging Het
Mroh2b A C 15: 4,978,572 (GRCm39) T1373P probably damaging Het
Mymk A G 2: 26,952,712 (GRCm39) probably null Het
Myo1f T A 17: 33,816,992 (GRCm39) H707Q probably benign Het
Ncam2 C A 16: 81,309,867 (GRCm39) H452Q possibly damaging Het
Ndrg4 A G 8: 96,404,975 (GRCm39) M1V probably null Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Nup155 T A 15: 8,177,044 (GRCm39) Y1040* probably null Het
Or1j15 T C 2: 36,459,443 (GRCm39) Y278H probably damaging Het
Or2ak4 C T 11: 58,648,985 (GRCm39) Q165* probably null Het
Or4f7 T C 2: 111,645,051 (GRCm39) T7A probably benign Het
Or5h22 C T 16: 58,895,243 (GRCm39) V67M possibly damaging Het
Pak1ip1 G A 13: 41,162,770 (GRCm39) R191Q probably benign Het
Pcdh17 G A 14: 84,683,384 (GRCm39) probably benign Het
Pcdhgc5 G T 18: 37,952,945 (GRCm39) R73L probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Plxnd1 A T 6: 115,943,866 (GRCm39) N1144K probably damaging Het
Ppp1r1b G T 11: 98,246,310 (GRCm39) E133D probably damaging Het
Ptpn13 A G 5: 103,705,815 (GRCm39) E1396G probably damaging Het
Reps1 T C 10: 17,970,218 (GRCm39) S272P probably damaging Het
Ric8b T C 10: 84,816,039 (GRCm39) V430A probably damaging Het
Septin10 A T 10: 59,012,825 (GRCm39) N264K possibly damaging Het
Sgms1 A T 19: 32,137,109 (GRCm39) F152L probably benign Het
Snapc1 C A 12: 74,011,506 (GRCm39) F57L probably damaging Het
Spidr A G 16: 15,786,540 (GRCm39) L401P probably damaging Het
Spn C T 7: 126,735,728 (GRCm39) V260M probably damaging Het
Sptan1 G A 2: 29,916,596 (GRCm39) A2095T probably damaging Het
Tbc1d15 A G 10: 115,038,407 (GRCm39) probably null Het
Thsd7b T A 1: 129,605,790 (GRCm39) F510L probably benign Het
Trpm5 T A 7: 142,632,050 (GRCm39) I920F probably damaging Het
Tspear C A 10: 77,710,898 (GRCm39) H507N probably benign Het
Vmn2r108 T A 17: 20,683,195 (GRCm39) K670* probably null Het
Vmn2r75 A T 7: 85,797,685 (GRCm39) C709* probably null Het
Wdfy3 G T 5: 102,020,767 (GRCm39) S2494R probably benign Het
Zfp456 A T 13: 67,515,108 (GRCm39) F199L probably damaging Het
Zfp830 A G 11: 82,655,529 (GRCm39) Q111R probably benign Het
Znrf1 G A 8: 112,263,842 (GRCm39) A24T probably damaging 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
R7652:Gas8 UTSW 8 124,253,275 (GRCm39) missense probably benign 0.00
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'- GAAGTTTGCAGACGCCATC -3'
(R):5'- CAGTGAATCTGGCCCCAAAC -3'

Sequencing Primer
(F):5'- TTTGCAGACGCCATCCAGGAG -3'
(R):5'- TGATGCCAGTTCGGTCTACACAG -3'
Posted On 2020-10-20