Incidental Mutation 'IGL01617:Trappc14'
ID 92417
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 # IGL01617
Quality Score
Status
Chromosome 5
Chromosomal Location 138257918-138262295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138260478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 47 (L47Q)
Ref Sequence ENSEMBL: ENSMUSP00000125208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159649] [ENSMUST00000159123] [ENSMUST00000161647] [ENSMUST00000159067] [ENSMUST00000161279] [ENSMUST00000159146]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048421
AA Change: L316Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: L316Q

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 damaging
Transcript: ENSMUST00000159649
AA Change: L47Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948
AA Change: L47Q

DomainStartEndE-ValueType
low complexity region 219 233 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159534
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 probably benign
Transcript: ENSMUST00000159146
Predicted Effect probably damaging
Transcript: ENSMUST00000164203
AA Change: L316Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127440
Gene: ENSMUSG00000091964
AA Change: L316Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,149 (GRCm39) I160F possibly damaging Het
Cacna1d C T 14: 29,824,328 (GRCm39) A1030T probably damaging Het
Ceacam13 A T 7: 17,745,308 (GRCm39) D126V possibly damaging Het
Cep68 G T 11: 20,189,510 (GRCm39) Q501K probably benign Het
Cfhr1 A T 1: 139,481,417 (GRCm39) C154* probably null Het
Chd3 A G 11: 69,249,060 (GRCm39) probably benign Het
Chrna5 A G 9: 54,912,297 (GRCm39) M262V probably damaging Het
Csrnp2 T C 15: 100,382,524 (GRCm39) Y172C probably benign Het
Dzip1 G T 14: 119,118,477 (GRCm39) P752Q probably benign Het
Frem1 G A 4: 82,854,376 (GRCm39) T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 (GRCm39) S400N probably benign Het
Hmcn1 C T 1: 150,547,783 (GRCm39) A2723T probably benign Het
Htt A G 5: 35,034,099 (GRCm39) H1895R possibly damaging Het
Kif21a T C 15: 90,879,840 (GRCm39) probably benign Het
Mitf A G 6: 97,973,389 (GRCm39) I241V probably benign Het
Mterf1b A T 5: 4,246,503 (GRCm39) D48V probably benign Het
Nmbr G T 10: 14,646,173 (GRCm39) R349M probably benign Het
Pik3r4 T C 9: 105,532,164 (GRCm39) S579P probably benign Het
Polr2i T C 7: 29,931,817 (GRCm39) F16S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rgs11 A G 17: 26,427,224 (GRCm39) H385R probably damaging Het
Rufy4 G A 1: 74,168,513 (GRCm39) G99R probably damaging Het
Slc29a1 A G 17: 45,900,375 (GRCm39) F185S probably benign Het
Spag17 G A 3: 100,016,824 (GRCm39) V2200I possibly damaging Het
Ttc7b G T 12: 100,352,215 (GRCm39) A414D possibly damaging Het
Ugt2b37 A T 5: 87,399,738 (GRCm39) W257R probably damaging Het
Ythdc2 A G 18: 44,974,482 (GRCm39) I381M possibly damaging Het
Other mutations in Trappc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Trappc14 APN 5 138,259,967 (GRCm39) missense possibly damaging 0.46
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 2013-12-09