Incidental Mutation 'IGL03375:Gas2l2'
ID420469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Namegrowth arrest-specific 2 like 2
SynonymsOTTMUSG00000000934
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03375
Quality Score
Status
Chromosome11
Chromosomal Location83421902-83429455 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 83426210 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052521] [ENSMUST00000147301]
Predicted Effect probably benign
Transcript: ENSMUST00000052521
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
CH 34 154 2.15e-15 SMART
low complexity region 167 200 N/A INTRINSIC
Pfam:GAS2 206 274 1.2e-35 PFAM
low complexity region 444 460 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147301
SMART Domains Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
CH 34 154 2.15e-15 SMART
low complexity region 167 185 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,602,828 S959P probably damaging Het
Arrb2 G A 11: 70,436,179 G24D probably damaging Het
Catsper4 A G 4: 134,218,208 I180T probably damaging Het
Chst15 G A 7: 132,270,457 Q32* probably null Het
Cntnap5c A T 17: 58,162,205 Y594F possibly damaging Het
Cse1l T A 2: 166,943,057 probably benign Het
Dab1 A T 4: 104,681,601 I201F possibly damaging Het
Eif2ak4 T C 2: 118,422,318 V457A probably benign Het
Fkbp1b T C 12: 4,838,220 probably benign Het
Fryl C A 5: 73,088,449 V1122F possibly damaging Het
Gm960 T C 19: 4,698,178 E164G probably benign Het
Gstt2 A T 10: 75,832,821 probably null Het
Hcst T G 7: 30,418,611 probably benign Het
Hectd4 A G 5: 121,328,382 E2420G possibly damaging Het
Hist2h4 T C 3: 96,263,142 T55A possibly damaging Het
Ifi206 A T 1: 173,480,778 S551T probably benign Het
Itgb3bp A G 4: 99,769,487 probably benign Het
Krtap6-2 A G 16: 89,419,756 Y108H unknown Het
Krtap6-5 T G 16: 89,047,852 probably benign Het
Muc5b A G 7: 141,861,962 T2882A possibly damaging Het
Nup214 C T 2: 32,010,221 T854M probably damaging Het
Olfml2b A G 1: 170,649,832 K179E probably benign Het
Olfr1281 A T 2: 111,328,884 H155L probably damaging Het
Olfr149 A G 9: 39,702,575 S65P probably damaging Het
Per2 A T 1: 91,424,228 I852K possibly damaging Het
Pkhd1 A T 1: 20,117,023 I3687N probably damaging Het
Slc7a2 A T 8: 40,916,373 S622C probably damaging Het
Smarcc2 G A 10: 128,482,912 V719I probably damaging Het
Syne2 T C 12: 75,925,435 I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 I264T probably damaging Het
Tmtc3 G A 10: 100,447,719 A658V possibly damaging Het
Tpm3 A G 3: 90,073,772 E56G possibly damaging Het
Tra2b T C 16: 22,247,243 probably benign Het
Trmu T A 15: 85,894,937 Y262N possibly damaging Het
Uox C T 3: 146,625,835 T213I probably damaging Het
Vps13d A G 4: 145,091,947 W2R probably damaging Het
Other mutations in Gas2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Gas2l2 APN 11 83422080 missense probably benign 0.05
IGL02304:Gas2l2 APN 11 83424238 unclassified probably benign
IGL02672:Gas2l2 APN 11 83425131 missense probably damaging 1.00
IGL02695:Gas2l2 APN 11 83422642 missense probably damaging 1.00
R0046:Gas2l2 UTSW 11 83421910 missense probably damaging 1.00
R0046:Gas2l2 UTSW 11 83421910 missense probably damaging 1.00
R0081:Gas2l2 UTSW 11 83422867 missense possibly damaging 0.95
R0183:Gas2l2 UTSW 11 83429056 missense probably benign 0.36
R0383:Gas2l2 UTSW 11 83423097 missense probably benign 0.06
R1157:Gas2l2 UTSW 11 83423328 missense probably benign 0.00
R1439:Gas2l2 UTSW 11 83427472 missense probably damaging 1.00
R1453:Gas2l2 UTSW 11 83422081 missense probably benign 0.02
R2071:Gas2l2 UTSW 11 83421949 missense probably benign
R2085:Gas2l2 UTSW 11 83427383 missense probably benign
R2310:Gas2l2 UTSW 11 83427439 missense possibly damaging 0.92
R4619:Gas2l2 UTSW 11 83423098 missense probably benign 0.01
R4620:Gas2l2 UTSW 11 83423098 missense probably benign 0.01
R4655:Gas2l2 UTSW 11 83423175 missense possibly damaging 0.92
R4755:Gas2l2 UTSW 11 83429367 missense probably damaging 0.99
R4897:Gas2l2 UTSW 11 83429215 missense probably damaging 1.00
R6466:Gas2l2 UTSW 11 83429353 missense probably damaging 1.00
R6705:Gas2l2 UTSW 11 83422636 nonsense probably null
R7074:Gas2l2 UTSW 11 83423067 missense probably benign 0.14
R7179:Gas2l2 UTSW 11 83422462 missense probably benign 0.09
R7343:Gas2l2 UTSW 11 83421990 nonsense probably null
R7554:Gas2l2 UTSW 11 83424410 nonsense probably null
R7748:Gas2l2 UTSW 11 83422398 missense probably benign 0.00
R7772:Gas2l2 UTSW 11 83429277 missense possibly damaging 0.79
R7869:Gas2l2 UTSW 11 83421990 nonsense probably null
R7952:Gas2l2 UTSW 11 83421990 nonsense probably null
X0021:Gas2l2 UTSW 11 83427440 missense probably benign 0.24
Posted On2016-08-02