Incidental Mutation 'R6302:Gas1'
ID 509305
Institutional Source Beutler Lab
Gene Symbol Gas1
Ensembl Gene ENSMUSG00000052957
Gene Name growth arrest specific 1
Synonyms Gas-1
MMRRC Submission 044467-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R6302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 60322219-60325179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60323970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 221 (D221E)
Ref Sequence ENSEMBL: ENSMUSP00000064555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065086] [ENSMUST00000223933]
AlphaFold Q01721
Predicted Effect probably damaging
Transcript: ENSMUST00000065086
AA Change: D221E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064555
Gene: ENSMUSG00000052957
AA Change: D221E

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 probably damaging
Transcript: ENSMUST00000223933
AA Change: D262E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225172
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G T 4: 144,396,760 (GRCm39) S324* probably null Het
Actl11 T G 9: 107,806,772 (GRCm39) V365G probably benign Het
Adgrg6 T A 10: 14,317,227 (GRCm39) D531V probably benign Het
Ankrd11 A G 8: 123,616,728 (GRCm39) S2354P probably benign Het
Ano9 A T 7: 140,684,221 (GRCm39) W514R probably damaging Het
Arfgef3 A T 10: 18,528,589 (GRCm39) V266E probably damaging Het
Bahcc1 T C 11: 120,167,634 (GRCm39) I1345T probably damaging Het
Bpifb4 G A 2: 153,801,587 (GRCm39) M355I probably benign Het
Catsperb T C 12: 101,554,402 (GRCm39) S699P possibly damaging Het
Cdh23 T G 10: 60,140,872 (GRCm39) I3161L possibly damaging Het
Chd3 T C 11: 69,244,604 (GRCm39) T1257A probably damaging Het
Cnnm4 C T 1: 36,539,036 (GRCm39) T638I probably benign Het
Cspg4b A G 13: 113,504,646 (GRCm39) D1925G probably damaging Het
Cyp26c1 A G 19: 37,674,936 (GRCm39) T86A probably damaging Het
Cyp3a63-ps A G 5: 145,564,847 (GRCm39) noncoding transcript Het
Dnah14 T A 1: 181,428,771 (GRCm39) I259N possibly damaging Het
Dnah17 T C 11: 118,019,981 (GRCm39) D22G probably benign Het
Epn2 T G 11: 61,437,312 (GRCm39) T87P probably damaging Het
Fbxl18 A G 5: 142,874,578 (GRCm39) L81P probably damaging Het
Gm8356 T C 14: 17,691,275 (GRCm39) Y130C probably damaging Het
Gpr151 T G 18: 42,712,459 (GRCm39) K73T probably damaging Het
Helq A C 5: 100,946,305 (GRCm39) V12G probably damaging Het
Inpp4b A G 8: 82,494,806 (GRCm39) T74A probably benign Het
Kirrel3 G A 9: 34,919,045 (GRCm39) V234I probably damaging Het
Kxd1 T A 8: 70,972,713 (GRCm39) probably null Het
Lif T C 11: 4,218,924 (GRCm39) Y68H probably damaging Het
Map6 A G 7: 98,985,314 (GRCm39) Q406R probably damaging Het
Mcoln3 A T 3: 145,830,527 (GRCm39) M86L probably benign Het
Mei1 T A 15: 81,987,439 (GRCm39) Y834* probably null Het
Mroh1 T C 15: 76,320,319 (GRCm39) probably null Het
Myo15b T C 11: 115,777,065 (GRCm39) I2319T possibly damaging Het
Myo7b T G 18: 32,127,439 (GRCm39) D621A probably damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nek7 T C 1: 138,426,351 (GRCm39) D254G probably damaging Het
Nsd2 A G 5: 34,024,921 (GRCm39) R560G possibly damaging Het
Or2t46 T C 11: 58,472,464 (GRCm39) F265L probably benign Het
Or52x1 A T 7: 104,852,926 (GRCm39) L208H probably damaging Het
Pbx1 T A 1: 168,018,910 (GRCm39) T312S probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,610,097 (GRCm39) S390G probably damaging Het
Plcxd3 C T 15: 4,546,239 (GRCm39) T81M probably damaging Het
Pmf1 C T 3: 88,307,017 (GRCm39) probably null Het
Rabep1 T C 11: 70,825,947 (GRCm39) V739A probably damaging Het
Rex2 A G 4: 147,142,451 (GRCm39) D313G possibly damaging Het
Rpia C T 6: 70,750,485 (GRCm39) V216I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sec13 T A 6: 113,712,167 (GRCm39) H56L probably damaging Het
Sec16a A T 2: 26,315,817 (GRCm39) V1733D probably damaging Het
Sim2 G A 16: 93,898,089 (GRCm39) A108T probably damaging Het
Slc27a5 T C 7: 12,722,479 (GRCm39) D665G probably damaging Het
Slc38a6 T A 12: 73,383,849 (GRCm39) V180E probably damaging Het
Smarcad1 T G 6: 65,052,122 (GRCm39) N38K possibly damaging Het
Spem2 T C 11: 69,709,091 (GRCm39) T45A possibly damaging Het
Svil T C 18: 5,057,432 (GRCm39) S714P probably benign Het
Taar7b T A 10: 23,876,158 (GRCm39) S108T possibly damaging Het
Tbl3 T C 17: 24,923,645 (GRCm39) K256E probably benign Het
Tcam1 T G 11: 106,177,276 (GRCm39) C423G probably damaging Het
Trpm4 A T 7: 44,977,143 (GRCm39) probably null Het
Ttyh2 T C 11: 114,592,662 (GRCm39) C231R probably damaging Het
Ugt3a1 C T 15: 9,365,397 (GRCm39) P337S probably damaging Het
Vmn2r83 A C 10: 79,304,837 (GRCm39) T16P possibly damaging Het
Vps52 T C 17: 34,182,189 (GRCm39) F589S probably damaging Het
Xkr4 T C 1: 3,286,961 (GRCm39) T410A probably damaging Het
Xkr9 A G 1: 13,742,726 (GRCm39) T4A probably damaging Het
Yars2 T C 16: 16,122,438 (GRCm39) L268P probably damaging Het
Zbtb41 C A 1: 139,357,027 (GRCm39) N427K possibly damaging Het
Zeb2 T C 2: 44,887,771 (GRCm39) T414A probably benign Het
Other mutations in Gas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2420:Gas1 UTSW 13 60,324,744 (GRCm39) utr 5 prime probably benign
R4011:Gas1 UTSW 13 60,323,791 (GRCm39) missense unknown
R6187:Gas1 UTSW 13 60,324,186 (GRCm39) missense possibly damaging 0.93
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'- CAGGAGCTACAAGTGTGACC -3'
(R):5'- ACTGCATCTCGGCGCTTATC -3'

Sequencing Primer
(F):5'- CTACAAGTGTGACCCGAGCAG -3'
(R):5'- CAGGACGAACACTGCAGGTC -3'
Posted On 2018-04-02