Incidental Mutation 'IGL01081:Msl3l2'
ID52068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msl3l2
Ensembl Gene ENSMUSG00000047669
Gene NameMSL3 like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01081
Quality Score
Status
Chromosome10
Chromosomal Location56106917-56116880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 56115925 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 249 (A249T)
Ref Sequence ENSEMBL: ENSMUSP00000051220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063138] [ENSMUST00000099739]
Predicted Effect probably benign
Transcript: ENSMUST00000063138
AA Change: A249T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051220
Gene: ENSMUSG00000047669
AA Change: A249T

DomainStartEndE-ValueType
Pfam:MRG 30 352 1.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099739
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219385
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,990,594 L158P probably damaging Het
Aco1 A G 4: 40,197,576 Q860R probably benign Het
Actl11 A T 9: 107,928,982 Q168L possibly damaging Het
Adam26b T C 8: 43,519,938 I676V probably benign Het
Aldoart2 A C 12: 55,566,135 I282L probably benign Het
Capns1 G T 7: 30,190,140 S211R probably benign Het
Cps1 T C 1: 67,206,824 V1158A probably damaging Het
Cryl1 C T 14: 57,286,364 probably null Het
Cxcr5 A G 9: 44,514,310 probably benign Het
Dcaf13 A G 15: 39,118,806 K56E probably damaging Het
Dlx6 T G 6: 6,867,068 S85A probably damaging Het
Dsg2 C T 18: 20,589,942 probably benign Het
Dync1li1 T A 9: 114,720,597 S412T possibly damaging Het
Ebf3 C A 7: 137,225,896 probably benign Het
Fads3 T C 19: 10,053,002 I168T probably benign Het
Gm10295 G A 7: 71,350,548 P95S unknown Het
Gm43638 T C 5: 87,486,596 T51A probably damaging Het
Gm5114 G A 7: 39,410,647 probably benign Het
Gucy2c G A 6: 136,702,739 T974M probably damaging Het
Ighv1-19-1 T C 12: 114,708,638 probably benign Het
Kri1 A T 9: 21,280,427 L173Q probably damaging Het
Lztfl1 T C 9: 123,702,273 D210G probably benign Het
Morc2a T A 11: 3,688,149 N958K probably damaging Het
Nlrp4a A G 7: 26,449,829 E287G probably benign Het
Nlrp9a A T 7: 26,558,094 N290I possibly damaging Het
Olfr1040 C T 2: 86,146,611 G41D probably benign Het
Olfr1367 T G 13: 21,347,015 L29R probably damaging Het
Olfr1509 A G 14: 52,451,027 T205A probably benign Het
Pcsk7 A G 9: 45,928,707 D731G probably benign Het
Plppr5 T A 3: 117,686,649 probably benign Het
Podxl T C 6: 31,528,704 T135A possibly damaging Het
Pole T G 5: 110,337,240 C407G possibly damaging Het
Prl C A 13: 27,065,041 N224K possibly damaging Het
Prnp A T 2: 131,936,420 probably benign Het
Proser2 A G 2: 6,100,338 *472R probably null Het
Rhag T C 17: 40,811,287 S38P possibly damaging Het
Rnf146 T C 10: 29,347,860 D10G probably damaging Het
Rps3a1 T C 3: 86,141,778 D29G probably benign Het
Sv2a A T 3: 96,189,696 I446F probably benign Het
Tbc1d30 C A 10: 121,267,414 R571L probably damaging Het
Tfrc T A 16: 32,624,828 probably null Het
Tnfaip1 G A 11: 78,528,303 P156S probably damaging Het
Vmn1r226 T C 17: 20,687,904 S133P probably damaging Het
Wnt9b C T 11: 103,732,010 R189K probably damaging Het
Ythdc2 A G 18: 44,850,659 H564R probably benign Het
Zfp442 C A 2: 150,409,347 E211* probably null Het
Other mutations in Msl3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Msl3l2 APN 10 56116244 missense probably damaging 0.97
IGL02379:Msl3l2 APN 10 56115921 missense possibly damaging 0.88
R0364:Msl3l2 UTSW 10 56115851 missense possibly damaging 0.90
R0478:Msl3l2 UTSW 10 56115315 missense probably damaging 0.99
R0693:Msl3l2 UTSW 10 56115851 missense possibly damaging 0.90
R1305:Msl3l2 UTSW 10 56115535 missense probably damaging 1.00
R2059:Msl3l2 UTSW 10 56115944 missense probably damaging 1.00
R2310:Msl3l2 UTSW 10 56115325 missense probably benign 0.01
R2377:Msl3l2 UTSW 10 56115563 missense probably damaging 1.00
R2849:Msl3l2 UTSW 10 56115442 missense probably benign 0.37
R4596:Msl3l2 UTSW 10 56115645 missense probably benign 0.00
R4834:Msl3l2 UTSW 10 56115559 missense probably damaging 1.00
R5380:Msl3l2 UTSW 10 56115572 missense probably damaging 1.00
R6142:Msl3l2 UTSW 10 56115365 missense possibly damaging 0.88
Posted On2013-06-21