Incidental Mutation 'IGL00517:Trappc14'
ID 6386
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 # IGL00517
Quality Score
Status
Chromosome 5
Chromosomal Location 138257918-138262295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138259967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 363 (V363A)
Ref Sequence ENSEMBL: ENSMUSP00000046898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159649] [ENSMUST00000159123] [ENSMUST00000159067] [ENSMUST00000161279] [ENSMUST00000159146] [ENSMUST00000161647]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048421
AA Change: V363A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: V363A

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: V94A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948
AA Change: V94A

DomainStartEndE-ValueType
low complexity region 219 233 N/A INTRINSIC
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: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
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: 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 probably benign
Transcript: ENSMUST00000159146
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: ENSMUST00000164203
AA Change: V363A

PolyPhen 2 Score 0.100 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127440
Gene: ENSMUSG00000091964
AA Change: V363A

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
Pfam:DUF4707 139 579 4.7e-252 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162632
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C T 7: 101,037,256 (GRCm39) R180W probably damaging Het
Atg4a T A X: 139,945,488 (GRCm39) M345K probably damaging Het
Cacna1s T C 1: 136,015,077 (GRCm39) V408A probably damaging Het
Ccdc141 C T 2: 76,884,988 (GRCm39) G551D probably damaging Het
Cdh2 A C 18: 16,760,693 (GRCm39) V558G possibly damaging Het
Col9a1 T A 1: 24,234,615 (GRCm39) probably benign Het
Fbxo15 T A 18: 84,977,225 (GRCm39) F46I probably damaging Het
Gdpd4 T C 7: 97,653,478 (GRCm39) I497T probably damaging Het
Gtf2f2 A G 14: 76,232,941 (GRCm39) V75A probably benign Het
Hpse T C 5: 100,839,196 (GRCm39) H384R possibly damaging Het
Lama2 T A 10: 27,073,326 (GRCm39) T1044S probably benign Het
Lamp2 T C X: 37,545,186 (GRCm39) probably benign Het
Lipe C A 7: 25,087,985 (GRCm39) probably null Het
Marf1 T C 16: 13,933,606 (GRCm39) E1594G possibly damaging Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Patj G T 4: 98,329,308 (GRCm39) V521F possibly damaging Het
Prkg1 A T 19: 30,872,068 (GRCm39) D242E probably benign Het
Qsox2 T C 2: 26,112,267 (GRCm39) I92V probably benign Het
Rasgrf1 T C 9: 89,852,534 (GRCm39) Y367H probably damaging Het
Rpl21-ps4 T C 14: 11,227,544 (GRCm38) noncoding transcript Het
Sigirr T C 7: 140,672,147 (GRCm39) E266G probably benign Het
Slitrk6 T C 14: 110,988,547 (GRCm39) T387A probably benign Het
Smim22 T C 16: 4,825,860 (GRCm39) L54P probably damaging Het
Taf4 G A 2: 179,566,206 (GRCm39) probably benign Het
Zswim3 T C 2: 164,663,011 (GRCm39) L497S probably damaging Het
Other mutations in Trappc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02904:Trappc14 APN 5 138,258,864 (GRCm39) missense probably benign 0.04
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 2012-04-20