Incidental Mutation 'R7398:Gas8'
ID 573968
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 045480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R7398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124245573-124263389 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 124245690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000090730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000176155] [ENSMUST00000176286] [ENSMUST00000177240] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect probably null
Transcript: ENSMUST00000093043
AA Change: M1K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220
AA Change: M1K

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: ENSMUST00000176155
SMART Domains Protein: ENSMUSP00000135524
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 189 3.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176286
SMART Domains Protein: ENSMUSP00000134757
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 96 3.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177240
SMART Domains Protein: ENSMUSP00000135216
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 101 4.5e-10 PFAM
Pfam:Dysbindin 96 142 2.7e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212923
AA Change: M1K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,680,811 (GRCm39) S368T probably damaging Het
Acmsd A G 1: 127,657,172 (GRCm39) probably benign Het
Arid3b A T 9: 57,703,495 (GRCm39) S445T probably benign Het
Brinp1 A G 4: 68,759,591 (GRCm39) V91A probably benign Het
Ccne1 A G 7: 37,805,702 (GRCm39) probably null Het
Col3a1 A T 1: 45,366,973 (GRCm39) I249F unknown Het
Crybg3 T C 16: 59,377,688 (GRCm39) I1189V probably benign Het
Cyp2d34 A T 15: 82,500,964 (GRCm39) D389E probably benign Het
D130043K22Rik A C 13: 25,077,360 (GRCm39) I998L probably damaging Het
Dgkq A G 5: 108,803,056 (GRCm39) I298T possibly damaging Het
Dnah17 T C 11: 117,971,550 (GRCm39) E2161G probably damaging Het
Dnajc25 T C 4: 59,017,824 (GRCm39) probably null Het
Dpp9 G A 17: 56,496,405 (GRCm39) R768* probably null Het
Dusp6 T A 10: 99,100,740 (GRCm39) N245K probably damaging Het
Eea1 C A 10: 95,831,493 (GRCm39) H195N probably benign Het
Efhc1 A G 1: 21,059,744 (GRCm39) E598G probably benign Het
Epb41l1 T C 2: 156,376,682 (GRCm39) V809A probably damaging Het
Gcm1 G A 9: 77,971,961 (GRCm39) V301I probably benign Het
Gm11554 T A 11: 99,695,085 (GRCm39) S43C unknown Het
Gm7298 A G 6: 121,758,912 (GRCm39) I1177V probably benign Het
Gm8011 A G 14: 42,285,918 (GRCm39) T27A Het
Hmcn1 A G 1: 150,522,421 (GRCm39) I3493T probably benign Het
Insrr T G 3: 87,716,039 (GRCm39) I578S probably damaging Het
Kif13b A G 14: 64,994,972 (GRCm39) D908G probably null Het
Lhcgr G C 17: 89,079,474 (GRCm39) Q71E probably benign Het
Lrrc34 T C 3: 30,697,491 (GRCm39) D80G probably damaging Het
Lrrc7 C A 3: 157,997,595 (GRCm39) E156* probably null Het
Lrrc9 A G 12: 72,547,590 (GRCm39) D1255G probably damaging Het
Mcidas A G 13: 113,133,416 (GRCm39) N116D probably benign Het
Mmp7 A G 9: 7,697,594 (GRCm39) N210D probably damaging Het
Morc3 A G 16: 93,671,748 (GRCm39) D926G probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Muc16 C A 9: 18,549,038 (GRCm39) V5752F possibly damaging Het
Myo16 A T 8: 10,612,183 (GRCm39) D1276V unknown Het
Nlrc4 T G 17: 74,753,537 (GRCm39) E282A probably damaging Het
Nos2 T A 11: 78,827,297 (GRCm39) Y227* probably null Het
Obox5 A C 7: 15,492,713 (GRCm39) M223L probably benign Het
Or10ak13 C A 4: 118,638,896 (GRCm39) L295F possibly damaging Het
Pygm G A 19: 6,435,966 (GRCm39) R139H probably damaging Het
Ranbp2 C A 10: 58,303,099 (GRCm39) P789T probably damaging Het
Riok2 T G 17: 17,607,501 (GRCm39) S350A probably benign Het
Rnf214 C T 9: 45,778,845 (GRCm39) V445I possibly damaging Het
Skida1 C T 2: 18,051,083 (GRCm39) V603I unknown Het
Skint6 T A 4: 112,755,335 (GRCm39) R747S probably benign Het
Slc24a5 G A 2: 124,927,694 (GRCm39) W331* probably null Het
Slc5a10 A T 11: 61,564,405 (GRCm39) C525S probably benign Het
Styxl2 A G 1: 165,928,044 (GRCm39) S523P probably damaging Het
Sult2b1 T C 7: 45,380,718 (GRCm39) Y288C probably damaging Het
Tagln3 G T 16: 45,543,440 (GRCm39) N67K probably damaging Het
Trav21-dv12 A T 14: 54,114,162 (GRCm39) H94L probably benign Het
Tshz2 A G 2: 169,726,094 (GRCm39) E230G probably damaging Het
Usb1 T A 8: 96,071,931 (GRCm39) H210Q probably damaging Het
Vill C T 9: 118,899,716 (GRCm39) P767L probably benign Het
Vmn2r94 A T 17: 18,477,603 (GRCm39) N269K 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
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
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'- CAACACTAGCTCTTCTGGCG -3'
(R):5'- CCCAGAGAACCTGAATGCAG -3'

Sequencing Primer
(F):5'- CGTTGTTAGGGACGCACTC -3'
(R):5'- CTGAATGCAGGCCCCGG -3'
Posted On 2019-09-13