Incidental Mutation 'R2161:Trmt9b'
ID 235156
Institutional Source Beutler Lab
Gene Symbol Trmt9b
Ensembl Gene ENSMUSG00000039620
Gene Name tRNA methyltransferase 9B
Synonyms 6430573F11Rik
MMRRC Submission 040164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2161 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 36924643-36981738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36972804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 85 (C85R)
Ref Sequence ENSEMBL: ENSMUSP00000127875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135373] [ENSMUST00000147525] [ENSMUST00000152039] [ENSMUST00000171777]
AlphaFold Q80WQ4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125492
Predicted Effect possibly damaging
Transcript: ENSMUST00000135373
AA Change: C85R

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620
AA Change: C85R

DomainStartEndE-ValueType
Pfam:Methyltransf_11 49 114 7.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147525
AA Change: C85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: C85R

DomainStartEndE-ValueType
Pfam:Methyltransf_8 4 158 3.6e-9 PFAM
Pfam:Ubie_methyltran 9 153 2.9e-7 PFAM
Pfam:Methyltransf_23 23 184 4.2e-12 PFAM
Pfam:Methyltransf_31 42 186 1.3e-10 PFAM
Pfam:Methyltransf_25 48 135 4.2e-9 PFAM
Pfam:Methyltransf_12 49 137 4.1e-11 PFAM
Pfam:Methyltransf_11 49 139 3.6e-18 PFAM
low complexity region 377 387 N/A INTRINSIC
low complexity region 410 430 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152039
AA Change: C85R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620
AA Change: C85R

DomainStartEndE-ValueType
Pfam:Methyltransf_11 49 109 2.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171777
AA Change: C85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: C85R

DomainStartEndE-ValueType
Pfam:Methyltransf_8 4 158 3.6e-9 PFAM
Pfam:Ubie_methyltran 9 153 2.9e-7 PFAM
Pfam:Methyltransf_23 23 186 1.5e-11 PFAM
Pfam:Methyltransf_31 42 186 3.5e-10 PFAM
Pfam:Methyltransf_25 48 135 4.3e-9 PFAM
Pfam:Methyltransf_12 49 137 4.1e-11 PFAM
Pfam:Methyltransf_11 49 139 3.2e-18 PFAM
low complexity region 377 387 N/A INTRINSIC
low complexity region 410 430 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,215,821 (GRCm39) M281V probably damaging Het
Ap1g1 A T 8: 110,570,986 (GRCm39) D423V probably damaging Het
Arel1 A G 12: 84,968,030 (GRCm39) probably null Het
Arhgap33 T C 7: 30,228,075 (GRCm39) probably null Het
Arhgef18 T G 8: 3,489,575 (GRCm39) Y302* probably null Het
Blm T C 7: 80,131,118 (GRCm39) probably null Het
Cep295 T G 9: 15,264,354 (GRCm39) E97D probably damaging Het
Cep295nl T C 11: 118,223,335 (GRCm39) D503G possibly damaging Het
Chchd2 G T 5: 129,912,989 (GRCm39) A29E probably damaging Het
Cic A G 7: 24,987,559 (GRCm39) probably null Het
Cmtr1 C T 17: 29,921,147 (GRCm39) L798F probably benign Het
Col11a2 C A 17: 34,283,771 (GRCm39) probably benign Het
Crispld2 A G 8: 120,742,078 (GRCm39) Y142C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dsp G A 13: 38,380,427 (GRCm39) D1792N probably damaging Het
Esp4 C A 17: 40,913,284 (GRCm39) N50K probably benign Het
Fbxo21 T C 5: 118,133,451 (GRCm39) S404P probably damaging Het
Ggnbp2 A G 11: 84,725,259 (GRCm39) F639L probably benign Het
Golph3l G A 3: 95,524,436 (GRCm39) G229D probably damaging Het
Hlx G T 1: 184,459,838 (GRCm39) S433R probably benign Het
Kdm2b T A 5: 123,018,762 (GRCm39) S233C probably damaging Het
Krt14 C T 11: 100,097,939 (GRCm39) G115R unknown Het
Ldb3 A G 14: 34,289,353 (GRCm39) probably null Het
Lrp1 T A 10: 127,391,607 (GRCm39) E2937D probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Naa20 T A 2: 145,753,715 (GRCm39) probably null Het
Ndufa8 A T 2: 35,926,527 (GRCm39) W170R probably damaging Het
Nlrp2 A T 7: 5,328,041 (GRCm39) L671I probably damaging Het
Or52e19b T A 7: 103,032,407 (GRCm39) R267S probably benign Het
Or5b108 T A 19: 13,168,673 (GRCm39) I214K probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpro A G 6: 137,426,885 (GRCm39) D280G probably benign Het
Reps1 A G 10: 17,972,031 (GRCm39) E361G probably damaging Het
Rgs6 A G 12: 83,138,578 (GRCm39) E304G probably damaging Het
Siglece T C 7: 43,308,793 (GRCm39) T187A probably benign Het
Slc5a10 C T 11: 61,610,760 (GRCm39) G5R probably null Het
Sohlh1 A G 2: 25,734,648 (GRCm39) I215T probably benign Het
Stag1 T A 9: 100,771,648 (GRCm39) V691D probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmed8 A G 12: 87,221,031 (GRCm39) V185A probably damaging Het
Trim71 A G 9: 114,341,840 (GRCm39) F814S probably damaging Het
Tsnax A T 8: 125,742,428 (GRCm39) K52N probably damaging Het
Tubgcp3 T C 8: 12,682,292 (GRCm39) T676A probably benign Het
Other mutations in Trmt9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Trmt9b APN 8 36,979,453 (GRCm39) missense possibly damaging 0.90
IGL01360:Trmt9b APN 8 36,979,713 (GRCm39) missense probably benign 0.08
IGL01364:Trmt9b APN 8 36,979,501 (GRCm39) missense probably benign 0.03
IGL03401:Trmt9b APN 8 36,972,823 (GRCm39) missense probably damaging 1.00
Bear_market UTSW 8 36,965,637 (GRCm39) critical splice donor site probably null
R2230:Trmt9b UTSW 8 36,979,707 (GRCm39) missense probably damaging 1.00
R2232:Trmt9b UTSW 8 36,979,707 (GRCm39) missense probably damaging 1.00
R4250:Trmt9b UTSW 8 36,979,366 (GRCm39) missense probably benign 0.05
R4432:Trmt9b UTSW 8 36,965,632 (GRCm39) missense probably damaging 1.00
R4491:Trmt9b UTSW 8 36,972,760 (GRCm39) missense probably damaging 1.00
R5242:Trmt9b UTSW 8 36,979,084 (GRCm39) missense probably benign 0.02
R5261:Trmt9b UTSW 8 36,979,078 (GRCm39) missense probably benign 0.07
R5482:Trmt9b UTSW 8 36,979,203 (GRCm39) missense probably benign
R5579:Trmt9b UTSW 8 36,979,195 (GRCm39) missense probably benign 0.00
R5594:Trmt9b UTSW 8 36,979,452 (GRCm39) missense probably benign 0.00
R5797:Trmt9b UTSW 8 36,965,569 (GRCm39) nonsense probably null
R6481:Trmt9b UTSW 8 36,965,637 (GRCm39) critical splice donor site probably null
R7504:Trmt9b UTSW 8 36,979,309 (GRCm39) missense probably benign 0.03
R8119:Trmt9b UTSW 8 36,965,576 (GRCm39) nonsense probably null
R8169:Trmt9b UTSW 8 36,978,857 (GRCm39) missense probably damaging 0.97
R8962:Trmt9b UTSW 8 36,972,729 (GRCm39) missense probably damaging 1.00
R9034:Trmt9b UTSW 8 36,978,954 (GRCm39) nonsense probably null
R9035:Trmt9b UTSW 8 36,978,954 (GRCm39) nonsense probably null
R9647:Trmt9b UTSW 8 36,979,210 (GRCm39) missense probably benign 0.00
X0057:Trmt9b UTSW 8 36,979,142 (GRCm39) nonsense probably null
X0065:Trmt9b UTSW 8 36,979,010 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- AAGTGTTCTCTGAAGTGTTGCATC -3'
(R):5'- CAGGAGTCAAATAAGTCATGCG -3'

Sequencing Primer
(F):5'- AAGTGTTGCATCTTGGTCATTTAC -3'
(R):5'- ATGATAGCATCGAAGCCC -3'
Posted On 2014-10-01