Incidental Mutation 'IGL01935:Tmed7'
ID 180636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmed7
Ensembl Gene ENSMUSG00000033184
Gene Name transmembrane p24 trafficking protein 7
Synonyms 5830493P14Rik, 3930401E15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL01935
Quality Score
Status
Chromosome 18
Chromosomal Location 46718995-46730602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46730190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 54 (T54A)
Ref Sequence ENSEMBL: ENSMUSP00000120904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036030] [ENSMUST00000078079] [ENSMUST00000151189] [ENSMUST00000168382]
AlphaFold D3YZZ5
Predicted Effect probably benign
Transcript: ENSMUST00000036030
AA Change: T54A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000043660
Gene: ENSMUSG00000033184
AA Change: T54A

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
EMP24_GP25L 36 188 1.1e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078079
SMART Domains Protein: ENSMUSP00000077223
Gene: ENSMUSG00000057561

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 9.42e-49 SMART
low complexity region 124 144 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143178
Predicted Effect probably benign
Transcript: ENSMUST00000151189
AA Change: T54A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120904
Gene: ENSMUSG00000033184
AA Change: T54A

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
EMP24_GP25L 36 213 2.76e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168382
SMART Domains Protein: ENSMUSP00000132018
Gene: ENSMUSG00000057561

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 9.42e-49 SMART
low complexity region 124 144 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging Het
Other mutations in Tmed7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1881:Tmed7 UTSW 18 46,721,622 (GRCm39) splice site probably null
R4201:Tmed7 UTSW 18 46,726,314 (GRCm39) critical splice donor site probably null
R4821:Tmed7 UTSW 18 46,726,480 (GRCm39) nonsense probably null
R6878:Tmed7 UTSW 18 46,726,532 (GRCm39) missense probably damaging 1.00
R9118:Tmed7 UTSW 18 46,726,338 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07