Incidental Mutation 'IGL03151:Trappc14'
ID 411096
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 # IGL03151
Quality Score
Status
Chromosome 5
Chromosomal Location 138257918-138262295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138260934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 237 (L237S)
Ref Sequence ENSEMBL: ENSMUSP00000046898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159649] [ENSMUST00000159123] [ENSMUST00000159146] [ENSMUST00000161647] [ENSMUST00000161279] [ENSMUST00000159067]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048421
AA Change: L237S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: L237S

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 noncoding transcript
Transcript: ENSMUST00000159534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141454
Predicted Effect probably benign
Transcript: ENSMUST00000159649
SMART Domains Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948

DomainStartEndE-ValueType
low complexity region 219 233 N/A INTRINSIC
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: 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: 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: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162632
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 G A 12: 84,061,326 (GRCm39) A211T probably damaging Het
Ampd1 T C 3: 102,999,786 (GRCm39) probably null Het
Armc3 T G 2: 19,243,509 (GRCm39) L75R probably damaging Het
Atp9b T C 18: 80,820,065 (GRCm39) D573G probably benign Het
Baz1a T A 12: 54,955,934 (GRCm39) probably null Het
C1ra A T 6: 124,496,730 (GRCm39) I389F probably benign Het
Ccdc87 T A 19: 4,891,585 (GRCm39) N692K probably benign Het
Ccr9 A G 9: 123,603,638 (GRCm39) probably benign Het
Ces4a G T 8: 105,874,829 (GRCm39) probably null Het
Dazap1 G A 10: 80,116,754 (GRCm39) probably benign Het
Dock5 A G 14: 68,103,516 (GRCm39) Y45H probably damaging Het
Eloa A T 4: 135,737,732 (GRCm39) Y409* probably null Het
Fam170a A G 18: 50,414,708 (GRCm39) E118G probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Glra1 C T 11: 55,418,206 (GRCm39) V180I probably damaging Het
Il17rb T C 14: 29,728,810 (GRCm39) T28A probably benign Het
Ints9 T A 14: 65,269,789 (GRCm39) V493E possibly damaging Het
Kcnq5 C T 1: 21,605,293 (GRCm39) C204Y probably damaging Het
Npc1 A T 18: 12,352,332 (GRCm39) N122K probably benign Het
Or2b4 G A 17: 38,116,159 (GRCm39) G41D probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prss21 A G 17: 24,088,376 (GRCm39) T114A probably damaging Het
Prss59 A G 6: 40,902,946 (GRCm39) F142S probably damaging Het
Rab10 G A 12: 3,299,812 (GRCm39) T193M probably benign Het
Serpini1 T A 3: 75,520,603 (GRCm39) S67T probably benign Het
Slc35b1 T C 11: 95,281,212 (GRCm39) probably null Het
Sorbs2 A T 8: 46,252,750 (GRCm39) H388L probably benign Het
Tfap2c T A 2: 172,399,110 (GRCm39) C427* probably null Het
Ttn G T 2: 76,632,732 (GRCm39) F14107L probably damaging Het
Upf1 G T 8: 70,788,037 (GRCm39) T774K probably damaging Het
Vmn1r170 G A 7: 23,306,002 (GRCm39) V135M probably benign Het
Vmn2r14 C T 5: 109,364,260 (GRCm39) C552Y probably damaging Het
Zfp367 A G 13: 64,293,445 (GRCm39) I147T probably damaging Het
Zfp952 T C 17: 33,221,982 (GRCm39) S116P 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
IGL02904:Trappc14 APN 5 138,258,864 (GRCm39) missense probably benign 0.04
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 2016-08-02