Incidental Mutation 'R6862:Trappc13'
ID535718
Institutional Source Beutler Lab
Gene Symbol Trappc13
Ensembl Gene ENSMUSG00000021711
Gene Nametrafficking protein particle complex 13
Synonyms2410002O22Rik, 2610524F24Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.720) question?
Stock #R6862 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location104142149-104178469 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104150152 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 199 (Q199R)
Ref Sequence ENSEMBL: ENSMUSP00000136986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022224] [ENSMUST00000141557] [ENSMUST00000144060] [ENSMUST00000179891]
Predicted Effect probably damaging
Transcript: ENSMUST00000022224
AA Change: Q199R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711
AA Change: Q199R

DomainStartEndE-ValueType
Pfam:DUF974 65 298 1.3e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141557
AA Change: Q199R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711
AA Change: Q199R

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1.6e-88 PFAM
low complexity region 365 387 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000144060
AA Change: Q193R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711
AA Change: Q193R

DomainStartEndE-ValueType
Pfam:DUF974 65 293 4.4e-87 PFAM
low complexity region 360 382 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179891
AA Change: Q199R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711
AA Change: Q199R

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C T 3: 138,186,188 probably benign Het
Adgra2 C A 8: 27,113,436 H416Q probably benign Het
Adgra2 T A 8: 27,113,437 C417S probably damaging Het
Aff3 C A 1: 38,406,497 R307L possibly damaging Het
Arhgap17 T C 7: 123,321,901 D121G probably damaging Het
Ascc3 G T 10: 50,849,646 R2155I probably null Het
Ccdc115 C T 1: 34,439,283 S19N possibly damaging Het
Ccser2 T C 14: 36,940,081 N382S probably benign Het
Cct6b A T 11: 82,719,959 V500E probably damaging Het
Cenpo A T 12: 4,216,539 Y190N probably damaging Het
Cfh T A 1: 140,102,362 K924N probably damaging Het
Col4a1 A G 8: 11,202,926 probably benign Het
Coro1b T C 19: 4,150,771 V234A probably benign Het
Crot T C 5: 8,989,641 K69E probably damaging Het
Cyp2d11 A T 15: 82,390,138 H347Q probably benign Het
Fam71b G A 11: 46,407,591 G574D possibly damaging Het
Fbn2 T A 18: 58,124,321 I325F probably benign Het
Fbxw4 T A 19: 45,582,748 R41S probably benign Het
Fn1 T A 1: 71,613,907 I1308F probably benign Het
Frem1 C A 4: 83,012,014 E232* probably null Het
Gabrg3 T C 7: 56,773,311 Q213R possibly damaging Het
Gm11639 A T 11: 104,721,458 K636* probably null Het
Gm428 A G 4: 73,687,384 N344S probably benign Het
Gsdme A T 6: 50,227,398 V193E probably damaging Het
Hadha C A 5: 30,147,979 probably null Het
Hdgfl2 C A 17: 56,099,211 A533E probably damaging Het
Hivep2 T C 10: 14,130,583 F975S probably damaging Het
Htatip2 T A 7: 49,770,918 S171T probably benign Het
Ift57 A T 16: 49,763,804 I307F possibly damaging Het
Il22 A T 10: 118,205,810 R110W probably benign Het
Kcnk13 G T 12: 100,061,689 R341L probably damaging Het
Kif2b G A 11: 91,575,915 T514M probably damaging Het
Kmt2c A C 5: 25,310,517 I2776S probably damaging Het
Ly9 T C 1: 171,601,155 D189G probably benign Het
Mal2 T C 15: 54,588,357 V58A probably damaging Het
Mettl21e T A 1: 44,206,366 N240I probably benign Het
Muc5ac C T 7: 141,809,744 probably benign Het
Nacc1 G A 8: 84,673,215 R458C probably damaging Het
Ncapd3 T C 9: 27,030,809 C14R probably damaging Het
Obscn G T 11: 58,995,453 probably benign Het
Olfr273 A G 4: 52,855,695 F273L probably benign Het
Olfr350 A T 2: 36,850,222 M59L possibly damaging Het
Olfr930 T A 9: 38,930,476 F102I possibly damaging Het
Parp12 T C 6: 39,111,736 I189V probably benign Het
Pde4dip C A 3: 97,767,024 R192L possibly damaging Het
Pdlim4 C A 11: 54,055,848 E204D probably damaging Het
Phf3 T C 1: 30,813,982 Q1049R probably damaging Het
Prr14l A G 5: 32,827,759 L1464P probably damaging Het
Psg25 C T 7: 18,521,398 V398I probably benign Het
Ptprq T A 10: 107,686,225 N622Y probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 probably benign Het
Tex36 A G 7: 133,587,273 L190P probably benign Het
Tk1 A G 11: 117,816,494 C156R probably damaging Het
Tmem144 T A 3: 79,832,099 M126L probably benign Het
Tmem208 G A 8: 105,328,230 probably null Het
Trim30b T A 7: 104,363,753 K156N probably damaging Het
Trps1 A G 15: 50,831,605 probably null Het
Washc4 T A 10: 83,558,893 F329Y possibly damaging Het
Zbed5 T G 5: 129,903,185 D658E probably benign Het
Zfyve28 T G 5: 34,288,105 K11N probably benign Het
Zp1 C T 19: 10,916,513 V443I possibly damaging Het
Other mutations in Trappc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Trappc13 APN 13 104144508 missense probably benign 0.30
IGL01930:Trappc13 APN 13 104148078 splice site probably benign
IGL02637:Trappc13 APN 13 104150062 missense probably benign 0.00
R0470:Trappc13 UTSW 13 104161004 missense possibly damaging 0.51
R0620:Trappc13 UTSW 13 104161081 missense probably damaging 1.00
R0628:Trappc13 UTSW 13 104154916 splice site probably benign
R1402:Trappc13 UTSW 13 104150116 missense probably damaging 1.00
R1402:Trappc13 UTSW 13 104150116 missense probably damaging 1.00
R1530:Trappc13 UTSW 13 104150143 missense probably damaging 1.00
R1826:Trappc13 UTSW 13 104169819 critical splice donor site probably null
R1951:Trappc13 UTSW 13 104174642 missense probably benign 0.43
R3755:Trappc13 UTSW 13 104168560 missense probably benign
R3756:Trappc13 UTSW 13 104168560 missense probably benign
R3918:Trappc13 UTSW 13 104161082 missense probably damaging 1.00
R4704:Trappc13 UTSW 13 104166821 intron probably benign
R4916:Trappc13 UTSW 13 104154294 critical splice donor site probably null
R5590:Trappc13 UTSW 13 104148241 missense probably damaging 1.00
R5635:Trappc13 UTSW 13 104150098 missense probably benign 0.01
R7708:Trappc13 UTSW 13 104147337 missense probably benign 0.06
R8049:Trappc13 UTSW 13 104144544 missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCTAGCTTGAGCCTAGCC -3'
(R):5'- AGGGCATCTGTGGACTAACAC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GTGGACTAACACCTCACTTTGC -3'
Posted On2018-10-18