Incidental Mutation 'R1722:Trim9'
ID 191571
Institutional Source Beutler Lab
Gene Symbol Trim9
Ensembl Gene ENSMUSG00000021071
Gene Name tripartite motif-containing 9
Synonyms C030048G07Rik
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 70291307-70394388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70295148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 658 (N658S)
Ref Sequence ENSEMBL: ENSMUSP00000106149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110520] [ENSMUST00000110522] [ENSMUST00000222316] [ENSMUST00000223160]
AlphaFold Q8C7M3
Predicted Effect probably benign
Transcript: ENSMUST00000110520
AA Change: N658S

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: N658S

DomainStartEndE-ValueType
RING 10 131 1.23e-4 SMART
BBOX 163 212 2.84e-9 SMART
BBOX 224 266 9.89e-9 SMART
BBC 273 399 1.29e-38 SMART
FN3 439 522 4.09e-7 SMART
Pfam:SPRY 598 702 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110522
AA Change: N732S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: N732S

DomainStartEndE-ValueType
RING 10 131 1.23e-4 SMART
BBOX 163 212 2.84e-9 SMART
BBOX 224 266 9.89e-9 SMART
BBC 273 399 1.29e-38 SMART
FN3 439 522 4.09e-7 SMART
low complexity region 591 605 N/A INTRINSIC
Pfam:SPRY 674 776 1.5e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221294
AA Change: N704S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222173
Predicted Effect probably benign
Transcript: ENSMUST00000222316
AA Change: N750S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000223160
AA Change: N654S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223518
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display increased axonal branching and increased corpus callosum thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Other mutations in Trim9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Trim9 APN 12 70,393,887 (GRCm39) missense probably damaging 0.98
IGL01618:Trim9 APN 12 70,295,125 (GRCm39) missense probably benign
IGL01794:Trim9 APN 12 70,328,654 (GRCm39) missense probably damaging 1.00
IGL03101:Trim9 APN 12 70,393,428 (GRCm39) missense probably damaging 1.00
IGL03184:Trim9 APN 12 70,297,995 (GRCm39) missense probably damaging 0.99
E0354:Trim9 UTSW 12 70,319,233 (GRCm39) missense probably benign 0.01
IGL03098:Trim9 UTSW 12 70,327,467 (GRCm39) missense possibly damaging 0.95
R0518:Trim9 UTSW 12 70,393,359 (GRCm39) missense probably damaging 0.99
R0622:Trim9 UTSW 12 70,393,378 (GRCm39) missense probably damaging 1.00
R0941:Trim9 UTSW 12 70,295,037 (GRCm39) missense probably damaging 0.97
R1022:Trim9 UTSW 12 70,298,791 (GRCm39) splice site probably null
R1024:Trim9 UTSW 12 70,298,791 (GRCm39) splice site probably null
R1204:Trim9 UTSW 12 70,393,501 (GRCm39) missense probably damaging 1.00
R1439:Trim9 UTSW 12 70,297,867 (GRCm39) missense probably damaging 1.00
R1530:Trim9 UTSW 12 70,319,202 (GRCm39) missense probably damaging 0.98
R1613:Trim9 UTSW 12 70,295,169 (GRCm39) missense probably damaging 1.00
R1661:Trim9 UTSW 12 70,301,887 (GRCm39) missense probably damaging 0.99
R1665:Trim9 UTSW 12 70,301,887 (GRCm39) missense probably damaging 0.99
R2097:Trim9 UTSW 12 70,393,933 (GRCm39) missense probably damaging 1.00
R3082:Trim9 UTSW 12 70,301,887 (GRCm39) missense possibly damaging 0.93
R3123:Trim9 UTSW 12 70,295,167 (GRCm39) missense probably damaging 1.00
R3124:Trim9 UTSW 12 70,295,167 (GRCm39) missense probably damaging 1.00
R3125:Trim9 UTSW 12 70,295,167 (GRCm39) missense probably damaging 1.00
R3738:Trim9 UTSW 12 70,297,969 (GRCm39) missense probably damaging 1.00
R4013:Trim9 UTSW 12 70,393,126 (GRCm39) missense probably damaging 1.00
R4017:Trim9 UTSW 12 70,393,126 (GRCm39) missense probably damaging 1.00
R4560:Trim9 UTSW 12 70,393,892 (GRCm39) nonsense probably null
R4734:Trim9 UTSW 12 70,295,047 (GRCm39) missense probably damaging 1.00
R4748:Trim9 UTSW 12 70,295,047 (GRCm39) missense probably damaging 1.00
R4749:Trim9 UTSW 12 70,295,047 (GRCm39) missense probably damaging 1.00
R4777:Trim9 UTSW 12 70,393,845 (GRCm39) missense probably damaging 1.00
R5027:Trim9 UTSW 12 70,393,482 (GRCm39) missense probably damaging 0.96
R5451:Trim9 UTSW 12 70,393,603 (GRCm39) missense probably benign 0.17
R5471:Trim9 UTSW 12 70,393,566 (GRCm39) missense possibly damaging 0.93
R6394:Trim9 UTSW 12 70,301,987 (GRCm39) missense possibly damaging 0.91
R6901:Trim9 UTSW 12 70,393,413 (GRCm39) missense probably damaging 0.96
R7549:Trim9 UTSW 12 70,393,715 (GRCm39) missense probably damaging 1.00
R7690:Trim9 UTSW 12 70,295,117 (GRCm39) missense probably benign
R7895:Trim9 UTSW 12 70,301,961 (GRCm39) missense probably benign 0.03
R8003:Trim9 UTSW 12 70,393,608 (GRCm39) missense probably benign 0.39
R8026:Trim9 UTSW 12 70,337,161 (GRCm39) missense probably benign 0.00
R8223:Trim9 UTSW 12 70,297,789 (GRCm39) missense probably damaging 0.99
R8956:Trim9 UTSW 12 70,393,665 (GRCm39) missense probably damaging 0.97
R9017:Trim9 UTSW 12 70,314,013 (GRCm39) missense probably benign
R9475:Trim9 UTSW 12 70,393,228 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- AGCAGCCAGTCTGTTGAAGTCATTC -3'
(R):5'- GGTAAAAGCCAGCGGCAAACTC -3'

Sequencing Primer
(F):5'- CTGTTGAAGTCATTCAGGTCTAC -3'
(R):5'- CTACTATACATGGGGCCAAGTTC -3'
Posted On 2014-05-14