Incidental Mutation 'R0655:Tmed10'
ID 62509
Institutional Source Beutler Lab
Gene Symbol Tmed10
Ensembl Gene ENSMUSG00000021248
Gene Name transmembrane p24 trafficking protein 10
Synonyms p24delta1, 1110014C03Rik, p23
MMRRC Submission 038840-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0655 (G1)
Quality Score 110
Status Not validated
Chromosome 12
Chromosomal Location 85387388-85421491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85390291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 88 (I88F)
Ref Sequence ENSEMBL: ENSMUSP00000152811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040766] [ENSMUST00000040992] [ENSMUST00000222585]
AlphaFold Q9D1D4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040766
AA Change: I191F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037583
Gene: ENSMUSG00000021248
AA Change: I191F

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 damaging
Transcript: ENSMUST00000222585
AA Change: I88F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 36,268,737 (GRCm39) I757M probably benign Het
Abtb3 A G 10: 85,481,390 (GRCm39) T931A probably damaging Het
Atg16l1 T A 1: 87,694,551 (GRCm39) I76N probably damaging Het
Baz1b T A 5: 135,271,284 (GRCm39) I1289N probably benign Het
Bcl2l15 T A 3: 103,740,285 (GRCm39) probably null Het
Cbl G T 9: 44,070,049 (GRCm39) T566K probably damaging Het
Cd96 T C 16: 45,919,482 (GRCm39) K180E probably benign Het
Cpxm2 G A 7: 131,656,549 (GRCm39) T571I possibly damaging Het
Cyp2a12 A T 7: 26,736,046 (GRCm39) Y485F probably benign Het
Cyp4f17 T A 17: 32,743,871 (GRCm39) Y350N possibly damaging Het
Dstn T A 2: 143,780,342 (GRCm39) I14N probably damaging Het
Eea1 A G 10: 95,831,460 (GRCm39) S184G probably benign Het
Eif1a G T 18: 46,741,130 (GRCm39) G122C probably damaging Het
Esf1 T A 2: 139,990,799 (GRCm39) T562S probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Fig4 T C 10: 41,161,673 (GRCm39) N30S probably damaging Het
Gria2 C A 3: 80,639,377 (GRCm39) E212* probably null Het
Gsdmc2 C T 15: 63,699,622 (GRCm39) A269T probably benign Het
Herc4 T C 10: 63,109,350 (GRCm39) V195A probably benign Het
Hivep1 T C 13: 42,321,061 (GRCm39) S2123P probably damaging Het
Hspa4 T C 11: 53,160,519 (GRCm39) E519G probably benign Het
Htr2b A G 1: 86,038,565 (GRCm39) S14P probably benign Het
Ifit1 T C 19: 34,625,047 (GRCm39) V61A probably damaging Het
Ifitm1 C A 7: 140,549,449 (GRCm39) F77L probably benign Het
Matn2 T C 15: 34,345,346 (GRCm39) S118P probably benign Het
Mtmr3 C A 11: 4,438,610 (GRCm39) D615Y probably damaging Het
Mtss1 C A 15: 58,953,351 (GRCm39) C9F probably damaging Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Nwd2 T C 5: 63,948,928 (GRCm39) S167P possibly damaging Het
Or1e34 T C 11: 73,778,631 (GRCm39) D189G possibly damaging Het
Or2ag1b A T 7: 106,288,632 (GRCm39) F102Y probably damaging Het
Or8b54 C T 9: 38,686,850 (GRCm39) Q100* probably null Het
Oscp1 T C 4: 125,952,526 (GRCm39) L18P probably damaging Het
Pax5 A G 4: 44,537,462 (GRCm39) S297P probably damaging Het
Phldb3 A T 7: 24,323,797 (GRCm39) D476V probably benign Het
Phlpp2 A T 8: 110,622,219 (GRCm39) I154L probably benign Het
Prx T A 7: 27,216,846 (GRCm39) V449E probably damaging Het
Psd3 A G 8: 68,416,341 (GRCm39) S519P probably benign Het
Rnf138 T G 18: 21,143,840 (GRCm39) V128G probably benign Het
Safb T A 17: 56,904,803 (GRCm39) S209T probably benign Het
Sbno1 C A 5: 124,514,212 (GRCm39) V1327L possibly damaging Het
Scarb1 A G 5: 125,377,504 (GRCm39) V176A probably damaging Het
Scd4 A G 19: 44,327,407 (GRCm39) H161R possibly damaging Het
Selenoo T A 15: 88,979,858 (GRCm39) H335Q probably damaging Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Spef2 T C 15: 9,626,217 (GRCm39) I1116M possibly damaging Het
Taf2 G A 15: 54,901,690 (GRCm39) R835W probably damaging Het
Tdrd9 A G 12: 112,006,899 (GRCm39) E921G probably damaging Het
Tectb G A 19: 55,178,302 (GRCm39) G234S possibly damaging Het
Tmc1 C T 19: 20,776,540 (GRCm39) M606I probably damaging Het
Tnfrsf11a G A 1: 105,735,880 (GRCm39) V31I unknown Het
Trp53inp2 G T 2: 155,228,088 (GRCm39) G98* probably null Het
Tssc4 A G 7: 142,623,782 (GRCm39) D30G probably damaging Het
Uaca T C 9: 60,779,311 (GRCm39) Y1233H probably benign Het
Unc13c G A 9: 73,838,235 (GRCm39) T872I probably damaging Het
Unc80 A G 1: 66,542,940 (GRCm39) H398R probably damaging Het
Vmn1r64 G A 7: 5,887,207 (GRCm39) T112I probably benign Het
Vmn1r85 A G 7: 12,818,650 (GRCm39) Y165H probably damaging Het
Vmn2r72 A T 7: 85,387,319 (GRCm39) C748* probably null Het
Wdr17 A G 8: 55,102,233 (GRCm39) W929R probably damaging Het
Yeats2 A T 16: 20,012,574 (GRCm39) K591* probably null Het
Zbtb9 T A 17: 27,193,074 (GRCm39) S160T probably damaging Het
Znfx1 T A 2: 166,898,827 (GRCm39) R32S probably damaging Het
Zng1 T C 19: 24,930,684 (GRCm39) M122V possibly damaging Het
Other mutations in Tmed10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0850:Tmed10 UTSW 12 85,390,279 (GRCm39) missense probably benign 0.00
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'- AGCTCAAACAGATCCTGTGAGGCG -3'
(R):5'- TCTGAGACCTATGGACAGAATGAGGC -3'

Sequencing Primer
(F):5'- CCGGTTTGttgttttgttttattttg -3'
(R):5'- GAGGCTAACTAATTGTCTTTACGC -3'
Posted On 2013-07-30