Incidental Mutation 'IGL03144:Trmt44'
ID 410820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt44
Ensembl Gene ENSMUSG00000029097
Gene Name tRNA methyltransferase 44
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03144
Quality Score
Status
Chromosome 5
Chromosomal Location 35556203-35575070 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35564422 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 466 (P466T)
Ref Sequence ENSEMBL: ENSMUSP00000030980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030980]
AlphaFold Q9D2Q2
Predicted Effect probably benign
Transcript: ENSMUST00000030980
AA Change: P466T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: P466T

DomainStartEndE-ValueType
Pfam:AdoMet_MTase 252 363 3.1e-42 PFAM
low complexity region 524 540 N/A INTRINSIC
Coding Region Coverage
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 putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C A 17: 24,381,964 Q451K probably benign Het
Acly A T 11: 100,515,083 D294E possibly damaging Het
Arid3a C T 10: 79,946,482 probably benign Het
Ascc3 T C 10: 50,767,443 V1830A probably benign Het
Atp6v1b1 T C 6: 83,758,351 V467A probably benign Het
Ccdc171 A T 4: 83,818,090 I1233L probably damaging Het
Ccdc74a C A 16: 17,648,866 Q146K possibly damaging Het
Cdh26 A G 2: 178,468,174 D420G probably damaging Het
Ceacam20 T C 7: 19,971,519 V145A possibly damaging Het
Cmya5 C A 13: 93,090,868 A2571S probably damaging Het
Cog2 T C 8: 124,541,024 S360P probably damaging Het
Col26a1 G T 5: 136,765,348 T132N probably damaging Het
Col6a2 T A 10: 76,614,425 H224L probably benign Het
Cpm C T 10: 117,683,414 S409L probably benign Het
Dock4 G T 12: 40,692,907 probably benign Het
Dpy19l2 T A 9: 24,646,307 N391Y possibly damaging Het
Exosc9 G A 3: 36,554,135 G126D probably damaging Het
Eya3 T C 4: 132,693,142 S256P probably benign Het
Fat3 T C 9: 16,375,245 D994G probably damaging Het
Fat4 A G 3: 38,956,859 Q2036R possibly damaging Het
Fryl T C 5: 73,101,455 Q662R probably null Het
Gm13271 A G 4: 88,755,399 R178G probably benign Het
Gpr165 T A X: 96,716,954 L279Q probably damaging Het
Htr1b A G 9: 81,631,945 L203P probably damaging Het
Kcnb2 T C 1: 15,709,888 L328P probably damaging Het
Klhl26 C T 8: 70,452,564 R198H probably damaging Het
Nhsl2 A G X: 102,079,509 R973G possibly damaging Het
Nmi A T 2: 51,952,534 F182Y probably damaging Het
Nop2 T A 6: 125,137,512 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr50 A G 2: 36,794,081 T282A probably benign Het
Ooep G T 9: 78,378,007 A109E possibly damaging Het
Pan3 T C 5: 147,450,781 probably benign Het
Pcdhb6 A G 18: 37,334,406 N127D probably damaging Het
Rabgap1 G A 2: 37,540,532 R695H probably damaging Het
Rxrg G A 1: 167,598,758 G3R possibly damaging Het
Slc17a3 T C 13: 23,846,440 M178T probably benign Het
Slc39a8 A G 3: 135,884,210 E287G probably benign Het
Slc44a5 G T 3: 154,243,540 D217Y possibly damaging Het
Slc4a10 G T 2: 62,250,466 V346L probably benign Het
Slc9a4 T C 1: 40,612,202 Y547H probably damaging Het
St6galnac3 A C 3: 153,205,527 Y266D probably damaging Het
Stard6 A T 18: 70,476,111 Y3F possibly damaging Het
Stk25 C A 1: 93,629,136 L53F probably damaging Het
Tep1 A T 14: 50,844,017 probably benign Het
Tmem151a T A 19: 5,085,372 M1L probably benign Het
Trim10 T C 17: 36,876,848 S319P probably damaging Het
Unc79 T C 12: 103,042,142 I256T probably damaging Het
Vmn2r125 G T 4: 156,350,019 L33F possibly damaging Het
Other mutations in Trmt44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Trmt44 APN 5 35568803 missense possibly damaging 0.61
IGL02139:Trmt44 APN 5 35568799 nonsense probably null
IGL02223:Trmt44 APN 5 35574645 missense probably benign 0.00
IGL02273:Trmt44 APN 5 35574113 missense probably damaging 1.00
IGL02667:Trmt44 APN 5 35571052 missense probably damaging 1.00
R0207:Trmt44 UTSW 5 35572917 missense possibly damaging 0.95
R0540:Trmt44 UTSW 5 35568759 critical splice donor site probably null
R0607:Trmt44 UTSW 5 35568759 critical splice donor site probably null
R1681:Trmt44 UTSW 5 35569977 missense probably benign 0.13
R1746:Trmt44 UTSW 5 35564059 missense probably benign 0.00
R2128:Trmt44 UTSW 5 35574832 missense probably benign 0.05
R4190:Trmt44 UTSW 5 35574970 missense possibly damaging 0.60
R4611:Trmt44 UTSW 5 35575007 missense probably benign 0.13
R4684:Trmt44 UTSW 5 35558043 missense probably benign 0.07
R5114:Trmt44 UTSW 5 35565468 missense possibly damaging 0.67
R5951:Trmt44 UTSW 5 35572688 unclassified probably benign
R6125:Trmt44 UTSW 5 35565498 missense probably damaging 1.00
R7131:Trmt44 UTSW 5 35571066 missense probably damaging 1.00
R7239:Trmt44 UTSW 5 35574786 missense probably benign 0.00
R7265:Trmt44 UTSW 5 35564303 missense probably benign 0.13
R7561:Trmt44 UTSW 5 35557992 missense possibly damaging 0.47
R8543:Trmt44 UTSW 5 35575030 missense probably benign 0.01
R8552:Trmt44 UTSW 5 35565400 missense probably benign 0.04
R8560:Trmt44 UTSW 5 35557951 missense probably benign 0.00
R8850:Trmt44 UTSW 5 35564329 missense probably benign 0.02
R9209:Trmt44 UTSW 5 35574078 critical splice donor site probably null
R9330:Trmt44 UTSW 5 35569920 missense probably damaging 1.00
R9588:Trmt44 UTSW 5 35569912 missense probably damaging 1.00
Posted On 2016-08-02