Incidental Mutation 'R4089:Trim30d'
ID 317508
Institutional Source Beutler Lab
Gene Symbol Trim30d
Ensembl Gene ENSMUSG00000057596
Gene Name tripartite motif-containing 30D
Synonyms TRIM30-3, Trim79
MMRRC Submission 040982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4089 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104119221-104157056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104137007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 66 (N66D)
Ref Sequence ENSEMBL: ENSMUSP00000033211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033211] [ENSMUST00000071069]
AlphaFold E9PWL0
Predicted Effect probably damaging
Transcript: ENSMUST00000033211
AA Change: N66D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033211
Gene: ENSMUSG00000057596
AA Change: N66D

DomainStartEndE-ValueType
RING 15 58 1.72e-8 SMART
BBOX 91 132 5.25e-13 SMART
low complexity region 196 228 N/A INTRINSIC
Pfam:SPRY 350 491 1.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071069
SMART Domains Protein: ENSMUSP00000065020
Gene: ENSMUSG00000057596

DomainStartEndE-ValueType
coiled coil region 23 84 N/A INTRINSIC
Pfam:SPRY 198 346 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141063
SMART Domains Protein: ENSMUSP00000115684
Gene: ENSMUSG00000057596

DomainStartEndE-ValueType
PDB:4B3N|B 58 197 3e-19 PDB
Blast:SPRY 122 209 4e-13 BLAST
Meta Mutation Damage Score 0.2947 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Actr5 T C 2: 158,467,022 (GRCm39) probably benign Het
Arhgef17 T A 7: 100,533,006 (GRCm39) E1173V probably damaging Het
Brca1 T C 11: 101,415,002 (GRCm39) N1044S possibly damaging Het
Cap1 A G 4: 122,756,202 (GRCm39) V398A probably benign Het
Cbs A C 17: 31,851,980 (GRCm39) C8G probably benign Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dip2a T C 10: 76,114,323 (GRCm39) probably null Het
Dock9 A T 14: 121,820,883 (GRCm39) C1494S probably damaging Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fbn2 C T 18: 58,186,841 (GRCm39) D1687N probably benign Het
Flt1 C A 5: 147,501,051 (GRCm39) L1327F probably benign Het
Frem3 T C 8: 81,341,802 (GRCm39) F1365S probably damaging Het
Gigyf2 A G 1: 87,371,394 (GRCm39) E1169G probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm14443 T C 2: 175,013,685 (GRCm39) Y29C probably damaging Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Ifngr1 T C 10: 19,477,233 (GRCm39) probably null Het
Il31ra C T 13: 112,688,453 (GRCm39) W41* probably null Het
Ints4 T A 7: 97,178,462 (GRCm39) Y687* probably null Het
Jpt2 A G 17: 25,175,076 (GRCm39) S37P probably benign Het
Kcnk9 A G 15: 72,418,112 (GRCm39) V6A probably benign Het
Lamc3 C T 2: 31,810,520 (GRCm39) R797* probably null Het
Lrig1 A G 6: 94,586,840 (GRCm39) I612T possibly damaging Het
Mapk4 C A 18: 74,063,530 (GRCm39) C564F probably damaging Het
Marveld2 T A 13: 100,736,988 (GRCm39) H215L probably benign Het
Mindy3 T C 2: 12,369,327 (GRCm39) M84V probably benign Het
Nek3 T C 8: 22,639,929 (GRCm39) D182G probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Pkp3 G A 7: 140,664,056 (GRCm39) R411H probably damaging Het
Plau A G 14: 20,891,134 (GRCm39) D366G probably damaging Het
Prkd3 A G 17: 79,278,817 (GRCm39) M423T possibly damaging Het
Prmt9 A T 8: 78,299,174 (GRCm39) I623L probably benign Het
Rgs6 A T 12: 83,110,261 (GRCm39) E175D probably damaging Het
Rnf135 G A 11: 80,089,872 (GRCm39) G403S probably damaging Het
Scn11a C T 9: 119,624,719 (GRCm39) probably null Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Sox10 C T 15: 79,040,563 (GRCm39) V165M possibly damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Tex14 A G 11: 87,403,029 (GRCm39) D533G probably damaging Het
Topbp1 T C 9: 103,201,700 (GRCm39) probably null Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Trip4 A G 9: 65,765,565 (GRCm39) V378A probably benign Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Washc2 A T 6: 116,233,253 (GRCm39) probably null Het
Other mutations in Trim30d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Trim30d APN 7 104,121,333 (GRCm39) missense possibly damaging 0.81
IGL01818:Trim30d APN 7 104,121,267 (GRCm39) missense probably damaging 1.00
IGL02552:Trim30d APN 7 104,121,623 (GRCm39) missense probably damaging 0.98
IGL03000:Trim30d APN 7 104,122,476 (GRCm39) missense probably benign 0.26
R0608:Trim30d UTSW 7 104,121,692 (GRCm39) missense probably damaging 0.99
R0629:Trim30d UTSW 7 104,136,862 (GRCm39) missense probably damaging 1.00
R1390:Trim30d UTSW 7 104,132,610 (GRCm39) missense probably benign 0.41
R1460:Trim30d UTSW 7 104,121,311 (GRCm39) missense probably benign 0.00
R1474:Trim30d UTSW 7 104,121,701 (GRCm39) missense probably damaging 1.00
R1701:Trim30d UTSW 7 104,133,389 (GRCm39) nonsense probably null
R1799:Trim30d UTSW 7 104,132,682 (GRCm39) missense probably damaging 0.98
R2295:Trim30d UTSW 7 104,137,149 (GRCm39) missense probably damaging 1.00
R3898:Trim30d UTSW 7 104,132,736 (GRCm39) missense probably benign 0.01
R3953:Trim30d UTSW 7 104,121,728 (GRCm39) missense probably damaging 1.00
R3954:Trim30d UTSW 7 104,121,728 (GRCm39) missense probably damaging 1.00
R3955:Trim30d UTSW 7 104,121,728 (GRCm39) missense probably damaging 1.00
R3957:Trim30d UTSW 7 104,121,728 (GRCm39) missense probably damaging 1.00
R4086:Trim30d UTSW 7 104,137,007 (GRCm39) missense probably damaging 1.00
R4087:Trim30d UTSW 7 104,137,007 (GRCm39) missense probably damaging 1.00
R4580:Trim30d UTSW 7 104,121,765 (GRCm39) missense possibly damaging 0.68
R4596:Trim30d UTSW 7 104,121,733 (GRCm39) missense probably benign 0.02
R4926:Trim30d UTSW 7 104,132,564 (GRCm39) missense probably benign 0.09
R5071:Trim30d UTSW 7 104,137,165 (GRCm39) missense probably damaging 1.00
R5074:Trim30d UTSW 7 104,137,165 (GRCm39) missense probably damaging 1.00
R5294:Trim30d UTSW 7 104,121,695 (GRCm39) missense probably damaging 1.00
R5477:Trim30d UTSW 7 104,121,347 (GRCm39) missense probably damaging 1.00
R5629:Trim30d UTSW 7 104,137,136 (GRCm39) missense possibly damaging 0.87
R5743:Trim30d UTSW 7 104,121,535 (GRCm39) nonsense probably null
R6178:Trim30d UTSW 7 104,137,202 (GRCm39) start codon destroyed probably damaging 1.00
R6244:Trim30d UTSW 7 104,136,817 (GRCm39) missense probably damaging 1.00
R6937:Trim30d UTSW 7 104,132,634 (GRCm39) missense probably damaging 1.00
R7014:Trim30d UTSW 7 104,132,543 (GRCm39) missense probably benign 0.01
R7323:Trim30d UTSW 7 104,132,555 (GRCm39) missense probably benign 0.41
R7659:Trim30d UTSW 7 104,121,554 (GRCm39) missense probably benign 0.01
R7982:Trim30d UTSW 7 104,121,817 (GRCm39) missense possibly damaging 0.95
R8353:Trim30d UTSW 7 104,136,947 (GRCm39) missense probably damaging 0.99
R8453:Trim30d UTSW 7 104,136,947 (GRCm39) missense probably damaging 0.99
X0026:Trim30d UTSW 7 104,137,172 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGGTGACCACTGTGCTCC -3'
(R):5'- AGGATCACAGCAACTATGGC -3'

Sequencing Primer
(F):5'- GCTCCTGGGATTGCTTACAAAG -3'
(R):5'- CCTCATCAGTCCTGGAGATGATAAAG -3'
Posted On 2015-05-15