Incidental Mutation 'IGL03404:Ttc23'
ID421543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc23
Ensembl Gene ENSMUSG00000030555
Gene Nametetratricopeptide repeat domain 23
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL03404
Quality Score
Status
Chromosome7
Chromosomal Location67647410-67762912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 67678897 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 195 (L195F)
Ref Sequence ENSEMBL: ENSMUSP00000103095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032774] [ENSMUST00000107470] [ENSMUST00000107471]
Predicted Effect probably damaging
Transcript: ENSMUST00000032774
AA Change: L195F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: L195F

DomainStartEndE-ValueType
Blast:TPR 45 78 5e-10 BLAST
SCOP:d1a17__ 50 214 6e-8 SMART
Blast:TPR 87 121 3e-10 BLAST
Blast:TPR 137 170 3e-8 BLAST
Blast:TPR 186 219 1e-6 BLAST
low complexity region 310 323 N/A INTRINSIC
Blast:TPR 398 431 5e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107470
AA Change: L195F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: L195F

DomainStartEndE-ValueType
Blast:TPR 45 78 4e-10 BLAST
Blast:TPR 87 121 2e-10 BLAST
Blast:TPR 137 170 3e-8 BLAST
Pfam:TPR_12 185 257 5.9e-10 PFAM
low complexity region 268 281 N/A INTRINSIC
Blast:TPR 356 389 5e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107471
AA Change: L195F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: L195F

DomainStartEndE-ValueType
Blast:TPR 45 78 4e-10 BLAST
Blast:TPR 87 121 2e-10 BLAST
Blast:TPR 137 170 3e-8 BLAST
Pfam:TPR_12 185 257 5.9e-10 PFAM
low complexity region 268 281 N/A INTRINSIC
Blast:TPR 356 389 5e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207774
Predicted Effect unknown
Transcript: ENSMUST00000208764
AA Change: L43F
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 T G 17: 32,312,276 probably benign Het
Ap3d1 A G 10: 80,730,037 S99P probably damaging Het
Arhgef1 T A 7: 24,916,843 M304K probably benign Het
Arpc5l T C 2: 39,013,883 L128P probably damaging Het
Chl1 A T 6: 103,693,091 I497F probably damaging Het
Dnah3 C T 7: 119,938,977 G616E probably damaging Het
Filip1 T C 9: 79,818,559 E926G probably damaging Het
Fras1 A T 5: 96,728,581 H2391L probably damaging Het
Fry A T 5: 150,326,168 D148V probably damaging Het
Glg1 A T 8: 111,159,902 M1086K probably damaging Het
Gm12185 T A 11: 48,908,037 Y543F probably damaging Het
Gtf3a T C 5: 146,950,639 probably null Het
Hydin A T 8: 110,569,777 Y3646F probably benign Het
Itpr3 A G 17: 27,091,518 D425G probably damaging Het
Lipo3 A C 19: 33,583,040 probably benign Het
Ltbp1 A C 17: 75,225,306 K443T probably damaging Het
Mylk3 A G 8: 85,342,681 I497T probably damaging Het
Nlrp5 A G 7: 23,430,034 D842G probably benign Het
Olfr1087 A G 2: 86,690,028 probably benign Het
Olfr218 T C 1: 173,204,199 V281A probably benign Het
Olfr429 A G 1: 174,089,898 N286S probably damaging Het
Olfr605 A T 7: 103,442,988 V45E possibly damaging Het
Pkd1 A T 17: 24,564,406 I120L probably damaging Het
Ptprc T C 1: 138,093,001 N401S probably damaging Het
Rptn A G 3: 93,398,129 H923R possibly damaging Het
Rrp8 T C 7: 105,734,938 K119R probably benign Het
Setd7 A T 3: 51,532,986 Y211* probably null Het
Sfxn5 G A 6: 85,299,536 probably benign Het
Sun5 T C 2: 153,871,004 probably benign Het
Tnks A T 8: 34,940,704 V290D probably damaging Het
Trrap C T 5: 144,833,186 P2740L probably benign Het
Tubb1 G T 2: 174,457,448 G308C probably damaging Het
Vmn1r217 A T 13: 23,114,640 F31I probably benign Het
Zp1 A T 19: 10,914,461 probably benign Het
Other mutations in Ttc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02852:Ttc23 APN 7 67667155 unclassified probably benign
IGL03257:Ttc23 APN 7 67711378 missense probably damaging 1.00
IGL03365:Ttc23 APN 7 67662337 utr 5 prime probably benign
F5770:Ttc23 UTSW 7 67709315 splice site probably benign
PIT4445001:Ttc23 UTSW 7 67667213 missense probably damaging 1.00
PIT4791001:Ttc23 UTSW 7 67662387 missense probably damaging 1.00
R0295:Ttc23 UTSW 7 67669852 unclassified probably benign
R0316:Ttc23 UTSW 7 67679073 critical splice donor site probably null
R0336:Ttc23 UTSW 7 67662483 missense probably benign 0.01
R1456:Ttc23 UTSW 7 67667154 unclassified probably benign
R1543:Ttc23 UTSW 7 67678995 missense probably benign 0.01
R1662:Ttc23 UTSW 7 67725321 splice site probably null
R1708:Ttc23 UTSW 7 67667176 missense probably damaging 0.99
R1857:Ttc23 UTSW 7 67679073 critical splice donor site probably null
R2292:Ttc23 UTSW 7 67669787 missense probably benign 0.08
R4471:Ttc23 UTSW 7 67670156 missense probably benign 0.37
R6036:Ttc23 UTSW 7 67711366 missense possibly damaging 0.85
R6036:Ttc23 UTSW 7 67711366 missense possibly damaging 0.85
R6841:Ttc23 UTSW 7 67669728 missense possibly damaging 0.91
R7690:Ttc23 UTSW 7 67670170 missense possibly damaging 0.76
R8305:Ttc23 UTSW 7 67662387 missense probably damaging 0.99
RF009:Ttc23 UTSW 7 67726029 missense possibly damaging 0.61
X0021:Ttc23 UTSW 7 67670131 missense probably damaging 1.00
Posted On2016-08-02