Incidental Mutation 'IGL01064:Trmt10b'
ID50836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt10b
Ensembl Gene ENSMUSG00000035601
Gene NametRNA methyltransferase 10B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01064
Quality Score
Status
Chromosome4
Chromosomal Location45297127-45316131 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45314347 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 261 (Y261C)
Ref Sequence ENSEMBL: ENSMUSP00000103429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673] [ENSMUST00000107800]
Predicted Effect probably benign
Transcript: ENSMUST00000030003
SMART Domains Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322

DomainStartEndE-ValueType
Blast:S1 111 180 4e-36 BLAST
Pfam:KH_6 196 243 3.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000044673
AA Change: Y263C

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
AA Change: Y263C

DomainStartEndE-ValueType
low complexity region 76 95 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
Pfam:tRNA_m1G_MT 135 308 2.6e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107800
AA Change: Y261C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
AA Change: Y261C

DomainStartEndE-ValueType
low complexity region 76 95 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
Pfam:tRNA_m1G_MT 133 306 1.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145756
Predicted Effect probably benign
Transcript: ENSMUST00000152056
SMART Domains Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322

DomainStartEndE-ValueType
Blast:S1 24 93 8e-38 BLAST
Pfam:KH_6 109 145 8e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,483,855 T4137S probably benign Het
Abcb1a T C 5: 8,732,388 Y924H possibly damaging Het
Ash1l T G 3: 89,072,484 C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpne6 T C 14: 55,512,730 F106S probably damaging Het
Cysltr1 A T X: 106,578,736 I48N probably damaging Het
Dsg1a A T 18: 20,340,206 I779F probably damaging Het
Fpr-rs4 T A 17: 18,022,517 L262H probably damaging Het
Gart G A 16: 91,623,007 R871C probably damaging Het
Get4 C T 5: 139,252,522 R20C probably damaging Het
Gm13030 G A 4: 138,873,558 probably benign Het
Gm17654 A T 14: 43,578,998 H49Q unknown Het
Gpnmb A G 6: 49,055,659 I506V probably benign Het
Ist1 T C 8: 109,682,611 I86V probably damaging Het
Kcnip1 C T 11: 33,633,192 D198N probably damaging Het
Kif5c A G 2: 49,694,816 I184V possibly damaging Het
Mink1 A T 11: 70,603,481 M236L probably benign Het
Muc5ac A T 7: 141,807,473 N1507I probably benign Het
Nrxn2 G T 19: 6,517,053 E1326D probably damaging Het
Olfr1329 A T 4: 118,916,894 M191K possibly damaging Het
Olfr1469 T C 19: 13,411,226 I219T probably benign Het
Olfr635 A T 7: 103,979,792 Y200F probably benign Het
Patj T C 4: 98,496,973 S326P possibly damaging Het
Pdha2 T C 3: 141,211,015 H244R possibly damaging Het
Pkhd1 C T 1: 20,534,530 probably benign Het
Ptk7 A T 17: 46,573,566 L746* probably null Het
Rad54b G A 4: 11,604,866 G438D probably damaging Het
Rbm27 T C 18: 42,319,814 V536A possibly damaging Het
Rundc3b T A 5: 8,569,553 M135L probably damaging Het
Sorcs2 T C 5: 36,065,352 Y353C probably damaging Het
Srcap T C 7: 127,559,892 probably benign Het
Sytl5 A G X: 9,905,595 H66R probably benign Het
Tlr7 T A X: 167,308,211 E93V probably damaging Het
Tmem156 A G 5: 65,079,984 L76S probably damaging Het
Tmem246 C T 4: 49,586,860 V103M possibly damaging Het
Tomm70a T C 16: 57,152,612 F571S probably damaging Het
Other mutations in Trmt10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Trmt10b APN 4 45305879 missense probably damaging 1.00
IGL02012:Trmt10b APN 4 45315045 missense probably benign 0.00
IGL02174:Trmt10b APN 4 45308508 missense possibly damaging 0.88
R0454:Trmt10b UTSW 4 45304286 missense probably damaging 1.00
R0506:Trmt10b UTSW 4 45304306 missense probably damaging 0.98
R1757:Trmt10b UTSW 4 45307946 missense probably damaging 1.00
R1962:Trmt10b UTSW 4 45314378 nonsense probably null
R2944:Trmt10b UTSW 4 45300445 start codon destroyed probably null 0.99
R4781:Trmt10b UTSW 4 45305817 missense probably damaging 0.98
R5802:Trmt10b UTSW 4 45314236 unclassified probably benign
R6400:Trmt10b UTSW 4 45308562 missense probably damaging 1.00
R6460:Trmt10b UTSW 4 45314322 missense possibly damaging 0.81
R7165:Trmt10b UTSW 4 45308549 missense probably damaging 1.00
R7182:Trmt10b UTSW 4 45308520 missense probably benign 0.36
Posted On2013-06-21