Incidental Mutation 'R4011:Gas1'
ID 359704
Institutional Source Beutler Lab
Gene Symbol Gas1
Ensembl Gene ENSMUSG00000052957
Gene Name growth arrest specific 1
Synonyms Gas-1
MMRRC Submission 040948-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R4011 (G1)
Quality Score 62
Status Validated
Chromosome 13
Chromosomal Location 60322219-60325179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 60323791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 322 (D322A)
Ref Sequence ENSEMBL: ENSMUSP00000153311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065086] [ENSMUST00000223933]
AlphaFold Q01721
Predicted Effect unknown
Transcript: ENSMUST00000065086
AA Change: D281A
SMART Domains Protein: ENSMUSP00000064555
Gene: ENSMUSG00000052957
AA Change: D281A

DomainStartEndE-ValueType
low complexity region 35 71 N/A INTRINSIC
GDNF 88 184 1.27e-12 SMART
low complexity region 189 202 N/A INTRINSIC
GDNF 203 280 5.34e-6 SMART
low complexity region 290 309 N/A INTRINSIC
low complexity region 320 359 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000223933
AA Change: D322A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225172
Meta Mutation Damage Score 0.0744 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene experience background sensitive reduction of viability. Developmental defects are found in the eyes, cerebellum and limbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,572,013 (GRCm39) probably benign Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
C1qtnf1 G A 11: 118,337,365 (GRCm39) G65D probably benign Het
Chd1l A T 3: 97,477,718 (GRCm39) M679K probably benign Het
Cspg4 A G 9: 56,794,601 (GRCm39) T779A probably benign Het
Ddx18 T C 1: 121,489,810 (GRCm39) I200V probably benign Het
Dnah9 T A 11: 65,725,290 (GRCm39) M4288L probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Gfm2 T A 13: 97,279,608 (GRCm39) probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Hbb-bh2 T A 7: 103,489,416 (GRCm39) H45L probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Igdcc4 T C 9: 65,042,761 (GRCm39) V1237A probably benign Het
Kat2b G A 17: 53,951,769 (GRCm39) probably null Het
Lmtk2 A G 5: 144,112,697 (GRCm39) N1139S probably benign Het
Map1a G A 2: 121,130,608 (GRCm39) A475T probably damaging Het
Map3k20 G A 2: 72,214,468 (GRCm39) probably benign Het
Mga T C 2: 119,762,261 (GRCm39) V1084A probably damaging Het
Msantd5f6 T C 4: 73,320,047 (GRCm39) Y244C probably damaging Het
Myo3b A G 2: 69,926,720 (GRCm39) I5V probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag56 A G 2: 87,139,555 (GRCm39) I141V probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or56b1 A G 7: 104,285,555 (GRCm39) T225A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5v1 T C 17: 37,810,382 (GRCm39) V280A possibly damaging Het
Osmr G T 15: 6,854,014 (GRCm39) R565S probably benign Het
Pcolce G T 5: 137,604,036 (GRCm39) Q344K probably benign Het
Prdm11 A G 2: 92,843,175 (GRCm39) F95L probably damaging Het
Psd2 C T 18: 36,120,300 (GRCm39) T383I probably benign Het
Reg3a G A 6: 78,360,553 (GRCm39) D164N probably damaging Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sgce G T 6: 4,691,563 (GRCm39) Y301* probably null Het
Slc28a3 T C 13: 58,714,064 (GRCm39) K434E probably benign Het
Slc30a3 A G 5: 31,244,203 (GRCm39) F360L probably damaging Het
Tdpoz3 A T 3: 93,733,550 (GRCm39) Y75F possibly damaging Het
Trim65 A G 11: 116,018,529 (GRCm39) F249L probably benign Het
Tubgcp3 A T 8: 12,689,634 (GRCm39) L544* probably null Het
Vit C T 17: 78,842,121 (GRCm39) probably benign Het
Wdfy4 C A 14: 32,824,637 (GRCm39) probably benign Het
Xpo6 T C 7: 125,739,780 (GRCm39) K431E probably benign Het
Xrn1 T A 9: 95,867,278 (GRCm39) Y545* probably null Het
Other mutations in Gas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2420:Gas1 UTSW 13 60,324,744 (GRCm39) utr 5 prime probably benign
R6187:Gas1 UTSW 13 60,324,186 (GRCm39) missense possibly damaging 0.93
R6302:Gas1 UTSW 13 60,323,970 (GRCm39) missense probably damaging 0.99
R7027:Gas1 UTSW 13 60,324,047 (GRCm39) missense probably damaging 0.99
R7830:Gas1 UTSW 13 60,323,848 (GRCm39) missense probably damaging 0.96
R8175:Gas1 UTSW 13 60,323,932 (GRCm39) missense
R9402:Gas1 UTSW 13 60,324,016 (GRCm39) missense probably damaging 0.98
R9578:Gas1 UTSW 13 60,323,905 (GRCm39) missense possibly damaging 0.95
RF011:Gas1 UTSW 13 60,324,345 (GRCm39) small insertion probably benign
RF038:Gas1 UTSW 13 60,324,344 (GRCm39) small insertion probably benign
RF038:Gas1 UTSW 13 60,324,342 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- AACATGTTGGCTGCGGTAC -3'
(R):5'- CAAGCTTTTCAACGGGCTG -3'

Sequencing Primer
(F):5'- CAGGAGCTACAAGTGTGACCC -3'
(R):5'- TCATCGAGGACATGCTGGC -3'
Posted On 2015-12-02