Incidental Mutation 'R9026:Gas8'
ID 686743
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 068855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R9026 (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 124260134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 455 (D455G)
Ref Sequence ENSEMBL: ENSMUSP00000148576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect probably benign
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
AA Change: D455G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,770,909 (GRCm39) Q33K possibly damaging Het
Acap2 A G 16: 30,925,906 (GRCm39) L550P probably damaging Het
Acsm3 A T 7: 119,373,845 (GRCm39) S244C probably benign Het
Adam28 T A 14: 68,846,593 (GRCm39) D740V probably benign Het
Adcy4 C A 14: 56,016,426 (GRCm39) V342L probably damaging Het
Adcyap1r1 A G 6: 55,458,107 (GRCm39) T303A probably benign Het
Agr2 T C 12: 36,046,091 (GRCm39) V74A probably benign Het
Akp3 A T 1: 87,054,786 (GRCm39) T374S possibly damaging Het
Ankrd36 A T 11: 5,610,696 (GRCm39) I1181L probably benign Het
Arhgap11a A T 2: 113,664,411 (GRCm39) V624E probably benign Het
Arhgap30 A T 1: 171,228,258 (GRCm39) D112V probably damaging Het
Atp8b4 A G 2: 126,184,883 (GRCm39) F927L probably benign Het
Bend4 C A 5: 67,584,475 (GRCm39) G150C unknown Het
Cd300lg T A 11: 101,944,998 (GRCm39) S403T probably damaging Het
Cep57l1 T A 10: 41,607,086 (GRCm39) Q159L probably damaging Het
Cipc C T 12: 86,999,634 (GRCm39) T57M probably damaging Het
Def8 T C 8: 124,186,391 (GRCm39) C377R probably damaging Het
Dock1 A G 7: 134,720,746 (GRCm39) D1285G probably damaging Het
Efcab10 A G 12: 33,448,398 (GRCm39) D77G probably damaging Het
Eml4 C T 17: 83,764,479 (GRCm39) T663M probably damaging Het
Ercc8 A G 13: 108,320,389 (GRCm39) E325G possibly damaging Het
Ermap C A 4: 119,035,240 (GRCm39) A583S probably damaging Het
F13a1 C T 13: 37,102,506 (GRCm39) G406S probably null Het
Faap20 T A 4: 155,335,426 (GRCm39) C141S probably benign Het
Fam193a A G 5: 34,616,536 (GRCm39) T904A possibly damaging Het
Garin2 T C 12: 78,757,097 (GRCm39) F18S probably benign Het
Gm21863 T C 12: 20,004,521 (GRCm39) S6P probably damaging Het
Gm4841 A T 18: 60,403,988 (GRCm39) I35N probably damaging Het
Grk4 T A 5: 34,877,084 (GRCm39) C260S probably damaging Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ighv5-6 A G 12: 113,589,247 (GRCm39) Y78H probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kl T A 5: 150,876,491 (GRCm39) S104T probably benign Het
Lyve1 C A 7: 110,453,182 (GRCm39) C138F probably damaging Het
Med27 G A 2: 29,399,446 (GRCm39) W92* probably null Het
Mical3 A T 6: 120,986,848 (GRCm39) probably benign Het
Mrgpra4 C A 7: 47,631,208 (GRCm39) R131L possibly damaging Het
Myf5 T C 10: 107,321,308 (GRCm39) N162S probably benign Het
Myh15 G A 16: 49,007,433 (GRCm39) E1835K probably damaging Het
Myo9a T A 9: 59,716,757 (GRCm39) Y486N probably damaging Het
Ncapg T A 5: 45,853,115 (GRCm39) N860K probably benign Het
Nr4a3 T C 4: 48,052,194 (GRCm39) F316S possibly damaging Het
Nsd3 T A 8: 26,172,576 (GRCm39) S778R probably benign Het
Or2r2 A G 6: 42,463,795 (GRCm39) F111L probably damaging Het
Or4c119 A T 2: 88,986,988 (GRCm39) V177E probably benign Het
Or4c31 A G 2: 88,292,196 (GRCm39) I190V probably damaging Het
Or5p6 A G 7: 107,631,286 (GRCm39) F88S probably damaging Het
Or7e173 T C 9: 19,938,344 (GRCm39) N297D Het
Or8b37 T A 9: 37,958,885 (GRCm39) Y122* probably null Het
Or8w1 A T 2: 87,465,369 (GRCm39) C241S probably damaging Het
Or9m2 A G 2: 87,820,568 (GRCm39) T38A probably damaging Het
Pdlim4 C T 11: 53,946,280 (GRCm39) G231S probably benign Het
Pknox2 C T 9: 36,821,044 (GRCm39) V273I possibly damaging Het
Pm20d1 A G 1: 131,739,822 (GRCm39) H390R probably benign Het
Prkg2 A T 5: 99,114,386 (GRCm39) D587E probably benign Het
Prps1l1 T A 12: 35,035,546 (GRCm39) D220E possibly damaging Het
Prss3l A G 6: 41,422,990 (GRCm39) F4L probably benign Het
Ptchd3 T C 11: 121,721,682 (GRCm39) V185A possibly damaging Het
Rag2 A T 2: 101,460,494 (GRCm39) N268I possibly damaging Het
Rarres2 A G 6: 48,549,020 (GRCm39) probably null Het
Rrp12 T C 19: 41,860,223 (GRCm39) H1000R probably benign Het
S100a2 A T 3: 90,498,811 (GRCm39) Y104F unknown Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpinb6d A T 13: 33,851,656 (GRCm39) T138S possibly damaging Het
Slamf7 T A 1: 171,466,312 (GRCm39) I228F probably benign Het
Slc11a1 G A 1: 74,416,325 (GRCm39) V92M probably damaging Het
Spi1 A G 2: 90,912,862 (GRCm39) N5S unknown Het
Stard9 G T 2: 120,536,283 (GRCm39) D4151Y probably damaging Het
Stmnd1 A G 13: 46,452,983 (GRCm39) T220A probably benign Het
Tacc2 G T 7: 130,225,266 (GRCm39) W650C probably damaging Het
Tmc5 A G 7: 118,241,594 (GRCm39) N429S possibly damaging Het
Tmem201 A C 4: 149,812,627 (GRCm39) L230V probably benign Het
Tmem222 T C 4: 132,997,119 (GRCm39) E94G possibly damaging Het
Trappc4 A G 9: 44,315,655 (GRCm39) F186S probably damaging Het
Trim17 A G 11: 58,862,273 (GRCm39) N435S probably benign Het
Trim68 A T 7: 102,329,447 (GRCm39) L227Q probably damaging Het
Tuba3b T G 6: 145,563,996 (GRCm39) V14G possibly damaging Het
Ubr2 G T 17: 47,245,041 (GRCm39) H1662N probably damaging Het
Vps13c T A 9: 67,861,863 (GRCm39) V2915E probably damaging Het
Vsig10 C T 5: 117,476,323 (GRCm39) T259I probably benign Het
Zfp267 A G 3: 36,219,066 (GRCm39) Y363C possibly 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
R8507:Gas8 UTSW 8 124,257,777 (GRCm39) critical splice donor site probably null
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'- TGACAATATCAGAGTCACACCTG -3'
(R):5'- AAGGTGAGAGCCCGAATTGC -3'

Sequencing Primer
(F):5'- ACACCTGTGTCTCCTTAGGATG -3'
(R):5'- CAGTGGGCTTTAATCTGGAAGAC -3'
Posted On 2021-11-19