Incidental Mutation 'IGL02904:Trappc14'
ID 363748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc14
Ensembl Gene ENSMUSG00000036948
Gene Name trafficking protein particle complex 14
Synonyms Map11, BC037034
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02904
Quality Score
Status
Chromosome 5
Chromosomal Location 138257918-138262295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138258864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 232 (V232I)
Ref Sequence ENSEMBL: ENSMUSP00000125208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159649] [ENSMUST00000159146] [ENSMUST00000159123] [ENSMUST00000161647] [ENSMUST00000159067] [ENSMUST00000161279]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048421
AA Change: V501I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: V501I

DomainStartEndE-ValueType
low complexity region 53 71 N/A INTRINSIC
low complexity region 75 93 N/A INTRINSIC
low complexity region 95 114 N/A INTRINSIC
low complexity region 215 225 N/A INTRINSIC
low complexity region 488 502 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062067
Predicted Effect probably benign
Transcript: ENSMUST00000100530
SMART Domains Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138911
Predicted Effect probably benign
Transcript: ENSMUST00000159649
AA Change: V232I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948
AA Change: V232I

DomainStartEndE-ValueType
low complexity region 219 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159146
AA Change: C35Y

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect probably benign
Transcript: ENSMUST00000159123
SMART Domains Protein: ENSMUSP00000137679
Gene: ENSMUSG00000036948

DomainStartEndE-ValueType
low complexity region 53 71 N/A INTRINSIC
low complexity region 75 93 N/A INTRINSIC
low complexity region 95 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161647
SMART Domains Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 4 226 5.3e-58 PFAM
Pfam:Gal-3-0_sulfotr 265 458 3.8e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161279
SMART Domains Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162632
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign Het
Other mutations in Trappc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Trappc14 APN 5 138,259,967 (GRCm39) missense possibly damaging 0.46
IGL01617:Trappc14 APN 5 138,260,478 (GRCm39) missense probably damaging 1.00
IGL02256:Trappc14 APN 5 138,258,577 (GRCm39) missense probably damaging 0.99
IGL02493:Trappc14 APN 5 138,261,432 (GRCm39) splice site probably null
IGL03151:Trappc14 APN 5 138,260,934 (GRCm39) missense possibly damaging 0.95
R0005:Trappc14 UTSW 5 138,260,916 (GRCm39) splice site probably null
R0010:Trappc14 UTSW 5 138,258,555 (GRCm39) splice site probably null
R0010:Trappc14 UTSW 5 138,258,555 (GRCm39) splice site probably null
R0619:Trappc14 UTSW 5 138,262,088 (GRCm39) unclassified probably benign
R0630:Trappc14 UTSW 5 138,260,551 (GRCm39) missense probably damaging 0.98
R1579:Trappc14 UTSW 5 138,260,128 (GRCm39) missense probably benign 0.00
R1778:Trappc14 UTSW 5 138,260,739 (GRCm39) splice site probably null
R1816:Trappc14 UTSW 5 138,258,603 (GRCm39) missense possibly damaging 0.91
R2009:Trappc14 UTSW 5 138,259,191 (GRCm39) missense probably damaging 1.00
R4711:Trappc14 UTSW 5 138,261,167 (GRCm39) unclassified probably benign
R4923:Trappc14 UTSW 5 138,260,641 (GRCm39) unclassified probably benign
R4999:Trappc14 UTSW 5 138,259,884 (GRCm39) missense probably damaging 1.00
R5103:Trappc14 UTSW 5 138,260,562 (GRCm39) missense probably benign 0.15
R5221:Trappc14 UTSW 5 138,260,502 (GRCm39) missense probably benign 0.14
R5444:Trappc14 UTSW 5 138,259,260 (GRCm39) splice site probably null
R5720:Trappc14 UTSW 5 138,261,964 (GRCm39) missense probably benign 0.00
R6519:Trappc14 UTSW 5 138,260,110 (GRCm39) missense probably damaging 0.99
R6599:Trappc14 UTSW 5 138,261,720 (GRCm39) splice site probably null
R6918:Trappc14 UTSW 5 138,258,926 (GRCm39) missense probably benign 0.03
R7275:Trappc14 UTSW 5 138,261,839 (GRCm39) missense probably benign 0.18
R7460:Trappc14 UTSW 5 138,260,991 (GRCm39) missense probably benign 0.32
R7564:Trappc14 UTSW 5 138,261,104 (GRCm39) splice site probably null
R8745:Trappc14 UTSW 5 138,261,327 (GRCm39) critical splice donor site probably null
R9043:Trappc14 UTSW 5 138,259,889 (GRCm39) missense possibly damaging 0.84
R9057:Trappc14 UTSW 5 138,260,949 (GRCm39) missense probably damaging 1.00
R9540:Trappc14 UTSW 5 138,260,127 (GRCm39) missense probably benign 0.28
R9607:Trappc14 UTSW 5 138,259,862 (GRCm39) missense probably damaging 1.00
R9798:Trappc14 UTSW 5 138,259,940 (GRCm39) missense possibly damaging 0.48
Posted On 2015-12-18