Incidental Mutation 'IGL01638:Tcerg1l'
ID93126
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? Non essential (E-score: 0.000) question?
Stock #IGL01638
Quality Score
Status
Chromosome7
Chromosomal Location138208974-138397730 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138280076 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 295 (R295C)
Ref Sequence ENSEMBL: ENSMUSP00000124476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160436]
Predicted Effect probably damaging
Transcript: ENSMUST00000160436
AA Change: R295C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: R295C

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null 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
IGL01710:Tcerg1l APN 7 138395060 missense possibly damaging 0.81
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
R7414:Tcerg1l UTSW 7 138218057 missense probably damaging 0.97
R7490:Tcerg1l UTSW 7 138259828 missense probably damaging 1.00
Posted On2013-12-09