Incidental Mutation 'R3081:Tmed4'
ID265438
Institutional Source Beutler Lab
Gene Symbol Tmed4
Ensembl Gene ENSMUSG00000004394
Gene Nametransmembrane p24 trafficking protein 4
Synonyms1110014L17Rik
MMRRC Submission 040571-MU
Accession Numbers

Genbank: NM_134020; MGI: 1915070

Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #R3081 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location6270369-6274870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6274151 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 115 (H115R)
Ref Sequence ENSEMBL: ENSMUSP00000004508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004508] [ENSMUST00000132147]
Predicted Effect probably benign
Transcript: ENSMUST00000004508
AA Change: H115R

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394
AA Change: H115R

DomainStartEndE-ValueType
EMP24_GP25L 29 222 3.21e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130621
Predicted Effect probably benign
Transcript: ENSMUST00000132147
AA Change: H107R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121643
Gene: ENSMUSG00000004394
AA Change: H107R

DomainStartEndE-ValueType
EMP24_GP25L 29 170 3.3e-26 SMART
Meta Mutation Damage Score 0.04 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (58/58)
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamdc T A 7: 97,565,225 T48S probably benign Het
Abcc3 T A 11: 94,356,976 L1230F probably damaging Het
Abcf3 T A 16: 20,559,364 I542N probably benign Het
Als2 A G 1: 59,187,349 L932P probably damaging Het
Arhgap45 G A 10: 80,026,447 R583H probably damaging Het
Asl T C 5: 130,013,404 Y277C probably damaging Het
Bcl9 A T 3: 97,205,673 N1155K possibly damaging Het
Carm1 C A 9: 21,579,396 probably null Het
Cdkn2aip T C 8: 47,711,497 K394E probably damaging Het
Cfap70 A G 14: 20,420,762 Y472H probably damaging Het
Cfap77 T A 2: 28,962,650 K203N probably damaging Het
Cldn14 T C 16: 93,919,304 K218R probably damaging Het
Coro6 T C 11: 77,468,912 F336S probably damaging Het
Derl1 C A 15: 57,875,611 probably benign Het
Dixdc1 G A 9: 50,710,959 A25V probably damaging Het
Dock2 T A 11: 34,231,610 H1651L probably benign Het
Dock6 A G 9: 21,839,200 F473L possibly damaging Het
Dzip3 T C 16: 48,927,558 H1163R probably damaging Het
Efcab9 T C 11: 32,523,689 D35G probably benign Het
Evpl T C 11: 116,220,852 D2004G probably damaging Het
Faiml A G 9: 99,232,474 C121R probably damaging Het
Fastkd3 T C 13: 68,584,868 V436A probably benign Het
Fbxl5 A G 5: 43,750,880 Y660H probably damaging Het
Glt8d1 T C 14: 31,006,660 V15A probably benign Het
Gpr25 A C 1: 136,259,885 I330S possibly damaging Het
Hdac5 A T 11: 102,205,610 V257E probably damaging Het
Lama2 C T 10: 27,001,235 E2652K probably benign Het
Lrriq1 T A 10: 103,144,889 S1462C probably damaging Het
Mgat3 A G 15: 80,211,854 D294G probably benign Het
Mylk2 A G 2: 152,919,354 N459S probably benign Het
Myo3b A C 2: 70,256,583 probably benign Het
Naip6 T C 13: 100,300,453 T521A probably benign Het
Nfxl1 C T 5: 72,529,035 A608T possibly damaging Het
Nmd3 A G 3: 69,724,399 probably benign Het
Nol8 C T 13: 49,678,392 probably benign Het
Olfr389 A T 11: 73,777,225 M34K probably damaging Het
Olfr870 C A 9: 20,170,765 G269W probably benign Het
Olfr901 T A 9: 38,431,056 M258K possibly damaging Het
Olfr954 G A 9: 39,461,930 M166I probably benign Het
Pcdhgb2 T C 18: 37,691,513 F519S probably damaging Het
Phf11c A G 14: 59,381,484 V284A probably benign Het
Rasl11a G T 5: 146,847,303 C186F probably benign Het
Rps18-ps3 T C 8: 107,262,837 noncoding transcript Het
Rusc1 A G 3: 89,091,723 S251P possibly damaging Het
Rxfp3 T C 15: 11,037,217 E23G probably benign Het
Senp6 G A 9: 80,143,842 A1134T probably benign Het
Slc22a4 A G 11: 54,007,789 V159A probably benign Het
Spata31d1a T C 13: 59,703,093 N407S probably benign Het
Ssc4d T C 5: 135,965,724 T51A possibly damaging Het
Stip1 C T 19: 7,035,648 A23T probably benign Het
Tecta A T 9: 42,377,994 M425K possibly damaging Het
Tmem255b T A 8: 13,451,048 L74H probably damaging Het
Trav6n-5 A T 14: 53,105,284 H93L possibly damaging Het
Tsen54 T A 11: 115,820,164 D187E probably benign Het
Ttc39d A G 17: 80,217,553 Y547C probably damaging Het
Vmn2r88 A G 14: 51,418,632 N775S probably damaging Het
Vps13a G T 19: 16,664,737 N2175K probably benign Het
Wnk4 A G 11: 101,276,891 probably benign Het
Zfp180 A T 7: 24,105,503 Q449L probably damaging Het
Other mutations in Tmed4
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Tmed4 UTSW 11 6273750 missense probably benign 0.01
P4717OSA:Tmed4 UTSW 11 6273727 unclassified probably benign
P4748:Tmed4 UTSW 11 6273727 unclassified probably benign
R0005:Tmed4 UTSW 11 6271781 missense probably damaging 1.00
R1909:Tmed4 UTSW 11 6274694 missense probably damaging 1.00
R2926:Tmed4 UTSW 11 6271728 missense probably benign 0.01
R3801:Tmed4 UTSW 11 6274233 missense probably damaging 0.98
R4572:Tmed4 UTSW 11 6274461 frame shift probably null
R4748:Tmed4 UTSW 11 6271716 missense possibly damaging 0.67
R4858:Tmed4 UTSW 11 6274456 missense possibly damaging 0.64
R4997:Tmed4 UTSW 11 6274500 critical splice acceptor site probably null
R5788:Tmed4 UTSW 11 6271743 missense probably damaging 1.00
R6033:Tmed4 UTSW 11 6274491 nonsense probably null
R6033:Tmed4 UTSW 11 6274491 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTTACCGCTATGGAGTCTGATTC -3'
(R):5'- GGATGGAAAATACCGCCGTG -3'

Sequencing Primer
(F):5'- ACCGCTATGGAGTCTGATTCTTGTC -3'
(R):5'- TGGTCCTGAGAAAGTCCCCAG -3'
Posted On2015-02-05