Incidental Mutation 'IGL01710:Tcerg1l'
ID104744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcerg1l
Ensembl Gene ENSMUSG00000091002
Gene Nametranscription elongation regulator 1-like
Synonyms5730476P14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL01710
Quality Score
Status
Chromosome7
Chromosomal Location138208974-138397730 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 138395060 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 149 (K149N)
Ref Sequence ENSEMBL: ENSMUSP00000124476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160436]
Predicted Effect possibly damaging
Transcript: ENSMUST00000160436
AA Change: K149N

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: K149N

DomainStartEndE-ValueType
low complexity region 6 44 N/A INTRINSIC
low complexity region 52 97 N/A INTRINSIC
WW 146 178 2.11e1 SMART
low complexity region 235 249 N/A INTRINSIC
WW 344 376 3.29e-4 SMART
low complexity region 402 415 N/A INTRINSIC
FF 454 507 4.57e-12 SMART
FF 520 574 1.53e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162222
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Tcerg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tcerg1l APN 7 138209804 missense probably damaging 0.99
IGL01402:Tcerg1l APN 7 138259839 missense probably damaging 0.98
IGL01510:Tcerg1l APN 7 138394305 splice site probably benign
IGL01638:Tcerg1l APN 7 138280076 missense probably damaging 1.00
IGL02547:Tcerg1l APN 7 138248371 critical splice donor site probably null
IGL02887:Tcerg1l APN 7 138229890 missense probably damaging 1.00
IGL03105:Tcerg1l APN 7 138248444 splice site probably benign
IGL03348:Tcerg1l APN 7 138213371 missense probably damaging 0.97
R0378:Tcerg1l UTSW 7 138276655 missense probably benign 0.01
R1474:Tcerg1l UTSW 7 138280075 missense probably damaging 0.99
R1589:Tcerg1l UTSW 7 138361767 missense probably damaging 0.99
R1658:Tcerg1l UTSW 7 138394180 missense probably damaging 0.98
R1792:Tcerg1l UTSW 7 138361866 missense probably benign 0.07
R1807:Tcerg1l UTSW 7 138395097 missense probably benign 0.34
R2920:Tcerg1l UTSW 7 138248379 missense probably damaging 0.99
R3148:Tcerg1l UTSW 7 138259867 missense probably benign
R4106:Tcerg1l UTSW 7 138259944 missense probably damaging 0.99
R4180:Tcerg1l UTSW 7 138276676 critical splice acceptor site probably null
R4241:Tcerg1l UTSW 7 138397632 missense unknown
R4898:Tcerg1l UTSW 7 138218057 missense probably damaging 0.99
R5652:Tcerg1l UTSW 7 138280046 missense probably damaging 0.97
R6646:Tcerg1l UTSW 7 138395183 splice site probably null
R6824:Tcerg1l UTSW 7 138394115 critical splice donor site probably null
Posted On2014-01-21