Incidental Mutation 'IGL02979:Chtop'
ID406474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chtop
Ensembl Gene ENSMUSG00000001017
Gene Namechromatin target of PRMT1
Synonymsfriend of Prmt1, 2500003M10Rik, Fop
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02979
Quality Score
Status
Chromosome3
Chromosomal Location90498956-90509498 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90500095 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 161 (I161T)
Ref Sequence ENSEMBL: ENSMUSP00000102967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001043] [ENSMUST00000049937] [ENSMUST00000076639] [ENSMUST00000107342] [ENSMUST00000107343] [ENSMUST00000107344] [ENSMUST00000107346] [ENSMUST00000131868] [ENSMUST00000146740]
Predicted Effect probably benign
Transcript: ENSMUST00000001043
AA Change: I161T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001043
Gene: ENSMUSG00000001017
AA Change: I161T

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
FoP_duplication 133 221 3.35e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049937
AA Change: I186T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000061800
Gene: ENSMUSG00000001017
AA Change: I186T

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
low complexity region 111 131 N/A INTRINSIC
FoP_duplication 158 246 3.35e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000076639
AA Change: I139T
SMART Domains Protein: ENSMUSP00000075936
Gene: ENSMUSG00000001017
AA Change: I139T

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
Blast:FoP_duplication 59 84 3e-6 BLAST
low complexity region 86 108 N/A INTRINSIC
FoP_duplication 114 199 1.21e-24 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107342
AA Change: I114T
SMART Domains Protein: ENSMUSP00000102965
Gene: ENSMUSG00000001017
AA Change: I114T

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Blast:FoP_duplication 34 59 3e-6 BLAST
low complexity region 61 83 N/A INTRINSIC
FoP_duplication 89 174 1.21e-24 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107343
AA Change: I115T
SMART Domains Protein: ENSMUSP00000102966
Gene: ENSMUSG00000001017
AA Change: I115T

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
FoP_duplication 90 175 1.21e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107344
AA Change: I161T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102967
Gene: ENSMUSG00000001017
AA Change: I161T

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 62 84 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
FoP_duplication 133 221 3.35e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107346
AA Change: I140T
SMART Domains Protein: ENSMUSP00000102969
Gene: ENSMUSG00000001017
AA Change: I140T

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
FoP_duplication 115 200 1.21e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131868
SMART Domains Protein: ENSMUSP00000123448
Gene: ENSMUSG00000001017

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 87 109 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146740
SMART Domains Protein: ENSMUSP00000116945
Gene: ENSMUSG00000001017

DomainStartEndE-ValueType
low complexity region 38 58 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 139 159 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,218,554 V1529A possibly damaging Het
Adam34 A T 8: 43,651,371 N412K probably damaging Het
Ank3 A G 10: 70,002,099 T1646A probably benign Het
C8b T A 4: 104,774,388 S67T probably damaging Het
Cemip T A 7: 84,003,306 probably benign Het
Chd6 T C 2: 160,966,170 E1708G possibly damaging Het
Dus3l T C 17: 56,768,140 V388A possibly damaging Het
Dzank1 A G 2: 144,488,738 F466L probably damaging Het
Exo1 A G 1: 175,899,407 D428G probably damaging Het
Fam20c C T 5: 138,757,865 P219S probably damaging Het
Hyls1 A T 9: 35,561,674 F149I probably benign Het
Kif13b A T 14: 64,789,697 Q1486L probably damaging Het
Lonp1 A G 17: 56,621,940 V274A probably benign Het
Myh13 T C 11: 67,334,962 V322A possibly damaging Het
Olfr954 T C 9: 39,461,523 F28L probably benign Het
Pkd1l3 T C 8: 109,662,104 probably benign Het
Prpf31 G A 7: 3,630,599 probably benign Het
Rock2 C A 12: 16,977,940 T1391K probably benign Het
Slc4a10 A G 2: 62,288,747 I769V probably null Het
Spag9 A G 11: 94,097,364 T416A probably benign Het
Tspoap1 C T 11: 87,770,521 L600F probably damaging Het
Ttll5 A G 12: 85,826,582 E11G probably damaging Het
Uox A T 3: 146,610,491 probably null Het
Wdr72 T C 9: 74,179,556 I602T probably damaging Het
Other mutations in Chtop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Chtop APN 3 90502250 missense possibly damaging 0.69
R1672:Chtop UTSW 3 90507567 missense probably damaging 0.99
R2163:Chtop UTSW 3 90502211 missense probably benign 0.02
R5728:Chtop UTSW 3 90500092 missense probably damaging 1.00
R5734:Chtop UTSW 3 90502115 critical splice donor site probably null
R7082:Chtop UTSW 3 90507584 missense probably benign
Posted On2016-08-02