Incidental Mutation 'IGL02815:Mysm1'
ID360784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mysm1
Ensembl Gene ENSMUSG00000062627
Gene Namemyb-like, SWIRM and MPN domains 1
SynonymsC130067A03Rik, C530050H10Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.319) question?
Stock #IGL02815
Quality Score
Status
Chromosome4
Chromosomal Location94942040-94979100 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 94957048 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075872]
Predicted Effect probably null
Transcript: ENSMUST00000075872
SMART Domains Protein: ENSMUSP00000075269
Gene: ENSMUSG00000062627

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
SANT 114 162 3.24e-13 SMART
low complexity region 214 229 N/A INTRINSIC
Pfam:SWIRM 365 452 3.1e-22 PFAM
JAB_MPN 569 691 1.63e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125427
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes exhibit pigmentation, epidermis, hair follicle and hair cycle abnormalities. Abnormalities in behavior, the hematopoietic and immune systems, body size, metabolism, and skeletal and eye phenotypes are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably damaging Het
Other mutations in Mysm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Mysm1 APN 4 94972909 splice site probably benign
IGL00657:Mysm1 APN 4 94960365 missense probably benign 0.17
IGL00908:Mysm1 APN 4 94958935 missense probably damaging 1.00
IGL01095:Mysm1 APN 4 94967869 critical splice donor site probably null
IGL02454:Mysm1 APN 4 94970504 splice site probably benign
IGL02544:Mysm1 APN 4 94952306 missense probably damaging 1.00
IGL02966:Mysm1 APN 4 94975286 missense probably benign 0.31
IGL03273:Mysm1 APN 4 94965718 missense probably damaging 1.00
R1746:Mysm1 UTSW 4 94948411 nonsense probably null
R1826:Mysm1 UTSW 4 94970686 missense probably benign 0.01
R1980:Mysm1 UTSW 4 94952213 missense probably benign 0.27
R3424:Mysm1 UTSW 4 94965321 missense probably benign 0.05
R3700:Mysm1 UTSW 4 94970652 missense probably benign 0.04
R4243:Mysm1 UTSW 4 94969011 missense probably benign 0.15
R4798:Mysm1 UTSW 4 94965673 missense probably benign 0.00
R4884:Mysm1 UTSW 4 94958948 missense probably damaging 0.98
R4983:Mysm1 UTSW 4 94972970 missense probably benign 0.01
R5024:Mysm1 UTSW 4 94951016 missense possibly damaging 0.47
R5213:Mysm1 UTSW 4 94948377 missense probably damaging 0.96
R5758:Mysm1 UTSW 4 94952361 missense probably damaging 0.98
R6129:Mysm1 UTSW 4 94967955 missense probably damaging 1.00
R7399:Mysm1 UTSW 4 94961727 missense probably benign 0.29
R7535:Mysm1 UTSW 4 94952215 missense probably benign 0.01
R7793:Mysm1 UTSW 4 94965132 missense probably damaging 0.99
R7861:Mysm1 UTSW 4 94946967 makesense probably null
R7944:Mysm1 UTSW 4 94946967 makesense probably null
X0021:Mysm1 UTSW 4 94975225 missense probably damaging 1.00
Posted On2015-12-18