Incidental Mutation 'R2926:Tmed4'
ID255770
Institutional Source Beutler Lab
Gene Symbol Tmed4
Ensembl Gene ENSMUSG00000004394
Gene Nametransmembrane p24 trafficking protein 4
Synonyms1110014L17Rik
MMRRC Submission 040511-MU
Accession Numbers

Genbank: NM_134020; MGI: 1915070

Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #R2926 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location6270369-6274870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6271728 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000004508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004508] [ENSMUST00000132147] [ENSMUST00000151446]
Predicted Effect probably benign
Transcript: ENSMUST00000004507
SMART Domains Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393

DomainStartEndE-ValueType
DEXDc 26 234 4.13e-46 SMART
low complexity region 246 256 N/A INTRINSIC
HELICc 272 380 2.42e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000004508
AA Change: T203A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000004508
Gene: ENSMUSG00000004394
AA Change: T203A

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
SMART Domains Protein: ENSMUSP00000121643
Gene: ENSMUSG00000004394

DomainStartEndE-ValueType
EMP24_GP25L 29 170 3.3e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151446
SMART Domains Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393

DomainStartEndE-ValueType
DEXDc 26 216 3.65e-38 SMART
low complexity region 228 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155874
Meta Mutation Damage Score 0.0988 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,078,839 S438R possibly damaging Het
Add3 A G 19: 53,226,822 probably null Het
Adgrb2 T C 4: 130,008,344 L506P probably damaging Het
Atp6v0a1 A T 11: 101,043,948 I621L probably damaging Het
AV320801 G T X: 135,499,548 A96S possibly damaging Het
Calb1 T G 4: 15,904,302 L218R probably damaging Het
Ccdc162 G A 10: 41,561,207 probably benign Het
Ccser2 A T 14: 36,879,561 S842T possibly damaging Het
Cd300a A G 11: 114,893,313 E49G possibly damaging Het
Colec11 T A 12: 28,617,429 Q37L probably damaging Het
D630045J12Rik T A 6: 38,168,171 I1307F probably damaging Het
Dapk1 T C 13: 60,719,750 V257A possibly damaging Het
Dnah3 T A 7: 119,951,115 N3327I probably damaging Het
Gja8 C T 3: 96,919,153 V398I probably benign Het
Gm4450 A G 3: 98,450,556 probably benign Het
Hfm1 A T 5: 106,874,282 L179* probably null Het
Ift88 T C 14: 57,488,918 Y678H probably damaging Het
Itga10 A G 3: 96,652,849 N560D probably damaging Het
Itpk1 G T 12: 102,579,130 P238Q probably damaging Het
Kl T C 5: 150,953,341 W209R probably damaging Het
Lama4 A G 10: 39,078,832 N1127S probably benign Het
Lrp1 C T 10: 127,588,113 C830Y probably damaging Het
Mcmbp G A 7: 128,698,014 probably benign Het
Mrps33 A G 6: 39,805,504 S28P probably damaging Het
Myo9b G A 8: 71,334,337 R721Q probably benign Het
Myt1 C T 2: 181,826,010 T1079M possibly damaging Het
N4bp1 A T 8: 86,861,796 Y171* probably null Het
Ncln G T 10: 81,488,438 T442K probably benign Het
Nphp4 T C 4: 152,518,139 V390A probably damaging Het
Ntrk2 C A 13: 59,060,284 T648K probably damaging Het
Nwd1 A G 8: 72,667,012 H301R probably damaging Het
Olfr729 A T 14: 50,148,436 V146E probably benign Het
Pcdh12 T C 18: 38,282,390 N561D probably damaging Het
Pcnx T A 12: 81,994,995 S2134T probably damaging Het
Ppp1cc G A 5: 122,174,088 A306T probably benign Het
Prrc2c C T 1: 162,706,127 probably benign Het
Rabggta C T 14: 55,719,290 R319H probably benign Het
Scn10a A C 9: 119,638,701 F791C possibly damaging Het
Stab1 T A 14: 31,161,799 D267V probably damaging Het
Sva A T 6: 42,042,662 Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,075,629 M104L probably damaging Het
Toe1 C T 4: 116,804,980 A331T possibly damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trpm7 T C 2: 126,858,409 probably benign Het
Ttll7 C T 3: 146,930,415 R438* probably null Het
Usp11 G T X: 20,717,792 G601W probably damaging Het
Vmn2r112 A G 17: 22,615,003 T551A possibly damaging Het
Vmn2r73 T C 7: 85,871,663 K366E probably benign Het
Vps33a A G 5: 123,569,571 I111T possibly 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
R3081:Tmed4 UTSW 11 6274151 missense probably benign 0.09
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'- ATGACGCCAGTGCCATGATG -3'
(R):5'- TGGTATTCCACAGGCATTTGG -3'

Sequencing Primer
(F):5'- ATGATGCCAGTGTGACACC -3'
(R):5'- GTCTGAAGTTGTGCGGTCAC -3'
Posted On2014-12-29