Incidental Mutation 'R5720:Trappc14'
ID 451404
Institutional Source Beutler Lab
Gene Symbol Trappc14
Ensembl Gene ENSMUSG00000036948
Gene Name trafficking protein particle complex 14
Synonyms Map11, BC037034
MMRRC Submission 043188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5720 (G1)
Quality Score 119
Status Not validated
Chromosome 5
Chromosomal Location 138257918-138262295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138261964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000046898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159123] [ENSMUST00000159649] [ENSMUST00000159067] [ENSMUST00000161647] [ENSMUST00000161279] [ENSMUST00000159146]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048421
AA Change: V44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: V44A

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 unknown
Transcript: ENSMUST00000159123
AA Change: V44A
SMART Domains Protein: ENSMUSP00000137679
Gene: ENSMUSG00000036948
AA Change: V44A

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 noncoding transcript
Transcript: ENSMUST00000159534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160157
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: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
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: ENSMUST00000159146
Predicted Effect probably benign
Transcript: ENSMUST00000164203
AA Change: V44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127440
Gene: ENSMUSG00000091964
AA Change: V44A

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: ENSMUST00000170479
AA Change: V111A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162632
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Cdh23 T C 10: 60,228,802 (GRCm39) T1125A possibly damaging Het
Cplane1 T A 15: 8,233,171 (GRCm39) N1165K probably benign Het
Ctf1 A T 7: 127,316,174 (GRCm39) probably null Het
Defb26 T C 2: 152,350,122 (GRCm39) N53D possibly damaging Het
Dhtkd1 T C 2: 5,907,825 (GRCm39) T787A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxl7 A G 15: 26,552,979 (GRCm39) L96P probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr65 A T 12: 98,241,361 (GRCm39) S5C probably damaging Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Itga8 G A 2: 12,115,898 (GRCm39) S76L probably damaging Het
Mpdz A T 4: 81,205,931 (GRCm39) F1810Y probably damaging Het
Nfrkb T C 9: 31,306,038 (GRCm39) L126P probably damaging Het
Or4a77 T C 2: 89,487,299 (GRCm39) Y162C probably benign Het
Primpol A G 8: 47,034,677 (GRCm39) V417A probably damaging Het
Pus1 C T 5: 110,925,584 (GRCm39) E79K probably damaging Het
Rspo2 C T 15: 43,033,210 (GRCm39) C4Y probably benign Het
Serpina12 T C 12: 104,004,563 (GRCm39) D23G probably benign Het
Serpind1 A T 16: 17,157,696 (GRCm39) R297S probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc17a6 C T 7: 51,275,145 (GRCm39) P68L probably damaging Het
Slc6a5 C T 7: 49,606,264 (GRCm39) P724L possibly damaging Het
Spaca7 A G 8: 12,649,004 (GRCm39) E166G possibly damaging Het
Supt5 A G 7: 28,021,993 (GRCm39) S345P probably damaging Het
Syne2 G A 12: 76,014,441 (GRCm39) D3211N probably benign Het
Tmem132e G A 11: 82,333,276 (GRCm39) probably null Het
Zfp384 T C 6: 125,013,587 (GRCm39) S536P 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTCACCCAGAGATCCTCAC -3'
(R):5'- TAAAGGTTCCTCAGCAGCCC -3'

Sequencing Primer
(F):5'- AGAGATCCTCACCGTGGTC -3'
(R):5'- TCAGCCAAGAAGCCTCGGAG -3'
Posted On 2017-01-03