Incidental Mutation 'R0850:Tmed10'
ID 82530
Institutional Source Beutler Lab
Gene Symbol Tmed10
Ensembl Gene ENSMUSG00000021248
Gene Name transmembrane p24 trafficking protein 10
Synonyms p24delta1, 1110014C03Rik, p23
MMRRC Submission 039029-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0850 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85387388-85421491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85390279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 195 (F195L)
Ref Sequence ENSEMBL: ENSMUSP00000037583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040766] [ENSMUST00000040992] [ENSMUST00000222585]
AlphaFold Q9D1D4
Predicted Effect probably benign
Transcript: ENSMUST00000040766
AA Change: F195L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037583
Gene: ENSMUSG00000021248
AA Change: F195L

DomainStartEndE-ValueType
EMP24_GP25L 31 213 3.4e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040992
SMART Domains Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290

DomainStartEndE-ValueType
low complexity region 19 49 N/A INTRINSIC
S_TKc 52 308 1.07e-73 SMART
Pfam:RCC1 389 441 1.2e-9 PFAM
Pfam:RCC1_2 428 457 1.5e-8 PFAM
Pfam:RCC1 444 495 3.6e-13 PFAM
Pfam:RCC1_2 482 511 3.6e-11 PFAM
Pfam:RCC1 499 547 7.6e-14 PFAM
Pfam:RCC1 615 665 4.2e-8 PFAM
Pfam:RCC1_2 652 681 4.4e-7 PFAM
low complexity region 752 767 N/A INTRINSIC
low complexity region 889 900 N/A INTRINSIC
low complexity region 910 927 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222529
Predicted Effect probably benign
Transcript: ENSMUST00000222585
AA Change: F92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation. Heterozygous mice display abnormalities of the Golgi apparatus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Aadacl2fm2 T G 3: 59,659,669 (GRCm39) I374R possibly damaging Het
Agbl3 T A 6: 34,776,139 (GRCm39) F210Y probably damaging Het
Dgkq A G 5: 108,802,444 (GRCm39) V418A possibly damaging Het
Dmp1 A T 5: 104,360,653 (GRCm39) D443V possibly damaging Het
Elapor2 T A 5: 9,467,993 (GRCm39) N220K probably damaging Het
Elavl3 T G 9: 21,948,059 (GRCm39) D35A probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fbxw25 T C 9: 109,478,685 (GRCm39) K425R probably benign Het
Gypa A G 8: 81,222,974 (GRCm39) H26R unknown Het
H2-DMb1 T C 17: 34,374,536 (GRCm39) V62A probably benign Het
Helb T C 10: 119,941,272 (GRCm39) H472R probably damaging Het
Herc1 T G 9: 66,373,952 (GRCm39) V3197G probably damaging Het
Herc2 C A 7: 55,854,231 (GRCm39) N3712K probably benign Het
Herc6 T C 6: 57,560,227 (GRCm39) V89A possibly damaging Het
Hspa1l A G 17: 35,196,599 (GRCm39) T213A probably benign Het
Kcna7 T C 7: 45,058,855 (GRCm39) S381P probably damaging Het
Kif19a C A 11: 114,671,613 (GRCm39) P164Q probably damaging Het
Macf1 A G 4: 123,368,195 (GRCm39) S2189P probably benign Het
Mpo A G 11: 87,688,328 (GRCm39) N329S probably damaging Het
Mrps15 A G 4: 125,942,479 (GRCm39) Y76C probably damaging Het
Or51a42 T A 7: 103,708,252 (GRCm39) M186L probably benign Het
Or6c75 T C 10: 129,337,593 (GRCm39) V280A probably damaging Het
Prdm2 T C 4: 142,858,773 (GRCm39) R1506G possibly damaging Het
Ptprb A T 10: 116,138,030 (GRCm39) Q311H possibly damaging Het
Ptprb T C 10: 116,175,415 (GRCm39) Y1137H probably damaging Het
Scaf8 A G 17: 3,246,049 (GRCm39) probably null Het
Slc25a1 A T 16: 17,745,145 (GRCm39) F105Y probably benign Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Spmip3 A G 1: 177,568,571 (GRCm39) T23A probably benign Het
Tmem45a2 T A 16: 56,865,732 (GRCm39) I151F probably benign Het
Vmn2r93 C A 17: 18,525,279 (GRCm39) F312L possibly damaging Het
Zfp326 A G 5: 106,026,663 (GRCm39) probably null Het
Other mutations in Tmed10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0655:Tmed10 UTSW 12 85,390,291 (GRCm39) missense probably damaging 0.96
R1780:Tmed10 UTSW 12 85,401,653 (GRCm39) missense probably damaging 1.00
R1845:Tmed10 UTSW 12 85,421,277 (GRCm39) missense possibly damaging 0.73
R7409:Tmed10 UTSW 12 85,391,065 (GRCm39) missense possibly damaging 0.74
R7549:Tmed10 UTSW 12 85,391,036 (GRCm39) nonsense probably null
R8139:Tmed10 UTSW 12 85,391,091 (GRCm39) missense probably damaging 0.97
R8790:Tmed10 UTSW 12 85,390,254 (GRCm39) missense probably damaging 0.99
R9483:Tmed10 UTSW 12 85,397,621 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAAACAGCTCAAACAGATCCTGTG -3'
(R):5'- TGAGGCTAACTAATTGTCTTTACGCCC -3'

Sequencing Primer
(F):5'- CCGGTTTGttgttttgttttattttg -3'
(R):5'- CTAGCCATTGTTTAGCCAAACTG -3'
Posted On 2013-11-08