Incidental Mutation 'R2068:Gas8'
ID 226848
Institutional Source Beutler Lab
Gene Symbol Gas8
Ensembl Gene ENSMUSG00000040220
Gene Name growth arrest specific 8
Synonyms Gas11
MMRRC Submission 040073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R2068 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124245573-124263389 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124253276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 208 (I208N)
Ref Sequence ENSEMBL: ENSMUSP00000148576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093043] [ENSMUST00000127664] [ENSMUST00000212923]
AlphaFold Q60779
Predicted Effect possibly damaging
Transcript: ENSMUST00000093043
AA Change: I208N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090730
Gene: ENSMUSG00000040220
AA Change: I208N

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 probably damaging
Transcript: ENSMUST00000212923
AA Change: I208N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
Abcb5 A T 12: 118,904,303 (GRCm39) C162* probably null Het
Akr1c19 A T 13: 4,288,391 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bsn T G 9: 107,987,883 (GRCm39) probably benign Het
Bsn T A 9: 108,003,749 (GRCm39) M219L possibly damaging Het
Btnl9 T C 11: 49,060,390 (GRCm39) T453A probably damaging Het
C6 G T 15: 4,820,552 (GRCm39) C521F probably damaging Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cdh20 A T 1: 110,065,666 (GRCm39) R647* probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cmya5 T A 13: 93,227,032 (GRCm39) K2685N possibly damaging Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cntn1 T C 15: 92,215,943 (GRCm39) V992A possibly damaging Het
Dapk1 G A 13: 60,899,022 (GRCm39) D831N probably damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah6 A G 6: 72,998,165 (GRCm39) Y4034H probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Eps8 A T 6: 137,499,172 (GRCm39) W239R probably benign Het
Fance T C 17: 28,539,799 (GRCm39) F83S possibly damaging Het
Fn1 A G 1: 71,639,598 (GRCm39) V1731A probably damaging Het
Gak G T 5: 108,718,091 (GRCm39) T1244K probably benign Het
Gm9830 A T 9: 44,375,579 (GRCm39) noncoding transcript Het
Gm9837 T A 11: 53,361,092 (GRCm39) probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hdac3 C A 18: 38,076,569 (GRCm39) G257V probably damaging Het
Heg1 A G 16: 33,547,960 (GRCm39) T916A probably benign Het
Herc2 G T 7: 55,782,245 (GRCm39) G1311C probably damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Klrg2 G A 6: 38,613,928 (GRCm39) T25I probably benign Het
Lcn5 G A 2: 25,548,053 (GRCm39) V21M probably damaging Het
Liat1 T C 11: 75,891,077 (GRCm39) S64P possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lrrn3 A T 12: 41,502,995 (GRCm39) S441T probably damaging Het
Mpdz G A 4: 81,254,067 (GRCm39) R1W probably null Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mpzl2 G A 9: 44,955,169 (GRCm39) probably null Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Notch3 A G 17: 32,354,482 (GRCm39) C1748R probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oasl2 A C 5: 115,049,298 (GRCm39) D466A probably benign Het
Opa3 T C 7: 18,978,739 (GRCm39) I68T possibly damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or8g37 T C 9: 39,731,846 (GRCm39) F304L probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pdzrn3 T C 6: 101,127,660 (GRCm39) E1002G probably damaging Het
Pik3c2a A T 7: 115,972,126 (GRCm39) L768* probably null Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Pramel11 T C 4: 143,623,482 (GRCm39) M231V probably damaging Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Pum1 A G 4: 130,501,745 (GRCm39) T845A probably benign Het
Rad21l T C 2: 151,509,927 (GRCm39) H58R probably damaging Het
Rgma A C 7: 73,059,379 (GRCm39) D161A probably damaging Het
Scai T C 2: 39,013,025 (GRCm39) Y135C probably damaging Het
Scn2a T A 2: 65,582,417 (GRCm39) H1588Q probably benign Het
Sdha A T 13: 74,472,087 (GRCm39) probably null Het
Slc12a3 A G 8: 95,072,456 (GRCm39) D658G probably damaging Het
Slc5a3 A G 16: 91,874,128 (GRCm39) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Sulf1 A G 1: 12,910,627 (GRCm39) I649V probably damaging Het
Thbs1 C T 2: 117,954,018 (GRCm39) Q1090* probably null Het
Tjp2 C A 19: 24,099,687 (GRCm39) R400L probably benign Het
Tle4 A T 19: 14,427,113 (GRCm39) Y769* probably null Het
Trmt5 A T 12: 73,331,444 (GRCm39) probably null Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubac2 T A 14: 122,145,691 (GRCm39) Y116* probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Usp36 T C 11: 118,165,844 (GRCm39) T160A possibly damaging Het
Usp54 G T 14: 20,627,273 (GRCm39) P462T probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vps11 A G 9: 44,269,613 (GRCm39) S213P probably damaging Het
Zfp668 C T 7: 127,465,837 (GRCm39) G449D probably benign 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
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
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'- GTGCTGAATATGCCACTTGC -3'
(R):5'- TTCTAGAACACCCCACCGTG -3'

Sequencing Primer
(F):5'- TTGCAGGGAAAGCTCCAC -3'
(R):5'- CACCTTGAGGGAGTTGAT -3'
Posted On 2014-09-17