Incidental Mutation 'R5424:Gas8'
ID 426765
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 042990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R5424 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124245573-124263389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124253251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 200 (L200I)
Ref Sequence ENSEMBL: ENSMUSP00000148576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect probably benign
Transcript: ENSMUST00000093043
AA Change: L200I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220
AA Change: L200I

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 noncoding transcript
Transcript: ENSMUST00000158007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212809
Predicted Effect possibly damaging
Transcript: ENSMUST00000212923
AA Change: L200I

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (59/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,678 (GRCm39) A300D probably damaging Het
Abca14 T C 7: 119,810,777 (GRCm39) Y119H probably benign Het
Actb A G 5: 142,891,306 (GRCm39) probably benign Het
Ada T A 2: 163,570,045 (GRCm39) K323* probably null Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Aire A T 10: 77,872,553 (GRCm39) V355E probably damaging Het
Atp8a1 T C 5: 67,969,443 (GRCm39) I117M probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Clca3a2 A G 3: 144,789,942 (GRCm39) F465L probably damaging Het
Cpne8 T A 15: 90,400,260 (GRCm39) M345L probably benign Het
Ddx54 T C 5: 120,757,926 (GRCm39) probably null Het
Dnah14 T G 1: 181,590,875 (GRCm39) M3256R possibly damaging Het
Epha2 T A 4: 141,046,251 (GRCm39) Y483* probably null Het
Ermard T A 17: 15,280,032 (GRCm39) S509T possibly damaging Het
Fam186a G T 15: 99,843,644 (GRCm39) H867N unknown Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gfra2 A T 14: 71,133,287 (GRCm39) D39V probably damaging Het
Gm10770 T C 2: 150,020,948 (GRCm39) T190A probably benign Het
Gm2617 T C 19: 9,301,320 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,805,017 (GRCm39) probably benign Het
Gmppb T A 9: 107,929,204 (GRCm39) probably null Het
Ifit2 T A 19: 34,551,458 (GRCm39) C333S probably benign Het
Ighg2b T C 12: 113,271,550 (GRCm39) K1R unknown Het
Impdh2-ps G T 8: 100,758,141 (GRCm39) noncoding transcript Het
Kdelr2 A C 5: 143,403,899 (GRCm39) E96A probably benign Het
Lama2 G A 10: 26,860,392 (GRCm39) R3032C probably damaging Het
Lipg T A 18: 75,087,324 (GRCm39) I166F probably damaging Het
Lrrc8b T C 5: 105,628,569 (GRCm39) V305A probably damaging Het
Marveld2 T C 13: 100,748,695 (GRCm39) H128R probably benign Het
Mgat4a A G 1: 37,505,636 (GRCm39) V189A probably benign Het
Mroh2b A T 15: 4,971,094 (GRCm39) E1033V probably damaging Het
Mtmr7 A G 8: 41,059,873 (GRCm39) V80A probably benign Het
Ndrg2 A G 14: 52,146,342 (GRCm39) S153P probably damaging Het
Nelfa C T 5: 34,079,189 (GRCm39) probably null Het
Nes G T 3: 87,886,131 (GRCm39) E1419D possibly damaging Het
Nipa1 C A 7: 55,629,223 (GRCm39) V297L possibly damaging Het
Obox5 T A 7: 15,492,807 (GRCm39) I254K probably benign Het
Or56b35 T C 7: 104,963,778 (GRCm39) V189A possibly damaging Het
Or8k24 G A 2: 86,216,184 (GRCm39) Q193* probably null Het
Pcdhga7 G A 18: 37,848,388 (GRCm39) A132T probably benign Het
Pla1a T A 16: 38,235,137 (GRCm39) I186F probably damaging Het
Plscr4 T A 9: 92,372,075 (GRCm39) M282K possibly damaging Het
Rpl22l1 T C 3: 28,861,047 (GRCm39) probably benign Het
Scn5a T C 9: 119,330,800 (GRCm39) D1246G probably damaging Het
Senp7 A G 16: 56,006,471 (GRCm39) S932G possibly damaging Het
Slc51a C A 16: 32,297,565 (GRCm39) A111S probably benign Het
Srcin1 T A 11: 97,427,885 (GRCm39) K236* probably null Het
Tbxas1 A G 6: 39,004,839 (GRCm39) D362G possibly damaging Het
Tcl1b5 T C 12: 105,146,275 (GRCm39) I116T possibly damaging Het
Tgm7 T A 2: 120,929,522 (GRCm39) M251L probably damaging Het
Tnn T A 1: 159,950,272 (GRCm39) Q778L possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp622 T C 15: 25,984,855 (GRCm39) C74R probably damaging Het
Zfp646 C A 7: 127,481,875 (GRCm39) H1351N 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
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
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'- TGTGCTGAATATGCCACTTGC -3'
(R):5'- TTCTAGAACACCCCACCGTG -3'

Sequencing Primer
(F):5'- TTGCAGGGAAAGCTCCAC -3'
(R):5'- AGCTCCTCTCCCAGAGC -3'
Posted On 2016-09-01