Incidental Mutation 'IGL02253:Tnrc6b'
ID286507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Nametrinucleotide repeat containing 6b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.282) question?
Stock #IGL02253
Quality Score
Status
Chromosome15
Chromosomal Location80711313-80941085 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80876541 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
Predicted Effect probably damaging
Transcript: ENSMUST00000067689
AA Change: S150T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: S150T

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
coiled coil region 33 72 N/A INTRINSIC
low complexity region 88 106 N/A INTRINSIC
low complexity region 155 174 N/A INTRINSIC
low complexity region 207 220 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
low complexity region 331 346 N/A INTRINSIC
low complexity region 363 380 N/A INTRINSIC
low complexity region 416 425 N/A INTRINSIC
low complexity region 475 487 N/A INTRINSIC
internal_repeat_1 488 667 6.43e-5 PROSPERO
low complexity region 858 888 N/A INTRINSIC
Pfam:Ago_hook 955 1095 1.2e-28 PFAM
coiled coil region 1258 1307 N/A INTRINSIC
Pfam:TNRC6-PABC_bdg 1339 1623 2.8e-112 PFAM
Pfam:RRM_5 1641 1695 2e-7 PFAM
low complexity region 1705 1721 N/A INTRINSIC
low complexity region 1748 1769 N/A INTRINSIC
low complexity region 1792 1809 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228071
Predicted Effect probably benign
Transcript: ENSMUST00000228124
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal and postnatal lethality with decreased body weight and infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,207,959 E76G probably benign Het
Adamtsl2 A T 2: 27,098,697 T587S possibly damaging Het
Adgre4 T A 17: 55,760,573 M9K probably benign Het
Aff2 T A X: 69,830,791 V447E probably benign Het
Arhgef10l G T 4: 140,544,284 S425* probably null Het
Cabcoco1 T C 10: 68,436,277 probably null Het
Calcr T A 6: 3,707,523 H259L probably benign Het
Cdc42bpa T A 1: 180,031,596 probably benign Het
Cntnap5b C T 1: 100,164,211 H540Y possibly damaging Het
Cyp2a22 A T 7: 26,938,237 probably benign Het
Ddx3x T C X: 13,284,968 probably benign Het
Dnajc11 T A 4: 151,950,519 Y28* probably null Het
Dock11 T C X: 36,041,128 F1472S probably damaging Het
Dusp18 T C 11: 3,897,576 *189Q probably null Het
Dzip3 A T 16: 48,944,924 Y476N probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Evc2 T A 5: 37,378,427 probably benign Het
Fam151b A T 13: 92,477,927 Y18N probably damaging Het
Gk5 T C 9: 96,137,771 F120S probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Kcna3 T C 3: 107,037,411 L330P probably damaging Het
Kctd20 A G 17: 28,961,486 N7S probably benign Het
Kmt2b G T 7: 30,581,727 R1276S probably damaging Het
Kmt2d C T 15: 98,858,175 probably benign Het
L2hgdh G A 12: 69,705,760 probably benign Het
Lifr T G 15: 7,190,604 V905G probably damaging Het
Mcm3ap T A 10: 76,470,065 V4E probably benign Het
Nrip3 A C 7: 109,761,744 probably null Het
Nsun2 T G 13: 69,619,539 V204G possibly damaging Het
Nup54 A G 5: 92,417,451 probably null Het
Olfr494 T A 7: 108,368,054 V188E possibly damaging Het
Olfr894 T A 9: 38,219,735 M304K probably benign Het
Pdcl3 A G 1: 38,994,930 D51G probably benign Het
Pdlim1 T C 19: 40,230,530 E219G probably damaging Het
Pld4 A C 12: 112,766,707 K239T probably damaging Het
Rgsl1 T C 1: 153,793,767 Y291C probably damaging Het
Rnf213 C A 11: 119,440,650 H2228Q probably benign Het
Rnf222 T A 11: 68,893,036 I143N probably damaging Het
Sirt7 A G 11: 120,620,867 I13T probably benign Het
Slfn10-ps A G 11: 83,029,064 noncoding transcript Het
Slx4ip T C 2: 137,000,275 probably null Het
Spata18 G T 5: 73,668,596 S164I possibly damaging Het
Ssfa2 A G 2: 79,660,444 T969A probably damaging Het
Stk26 T C X: 50,886,688 L212P probably damaging Het
Tmsb15a T C X: 135,719,702 I56V probably benign Het
Tubb3 T C 8: 123,420,820 M164T probably benign Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zyg11a A C 4: 108,183,695 V685G probably null Het
Other mutations in Tnrc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Tnrc6b APN 15 80923578 missense probably damaging 1.00
IGL01402:Tnrc6b APN 15 80880544 missense possibly damaging 0.71
IGL01505:Tnrc6b APN 15 80879963 missense probably benign 0.00
IGL01516:Tnrc6b APN 15 80902622 missense possibly damaging 0.93
IGL01584:Tnrc6b APN 15 80879682 missense probably benign 0.01
IGL01681:Tnrc6b APN 15 80879311 unclassified probably null
IGL01909:Tnrc6b APN 15 80901983 missense possibly damaging 0.88
IGL01943:Tnrc6b APN 15 80927695 nonsense probably null
IGL02260:Tnrc6b APN 15 80880171 missense probably damaging 0.99
IGL02437:Tnrc6b APN 15 80880457 missense probably damaging 1.00
IGL02541:Tnrc6b APN 15 80879831 missense probably benign 0.00
IGL02542:Tnrc6b APN 15 80902352 missense possibly damaging 0.83
PIT1430001:Tnrc6b UTSW 15 80929186 missense probably damaging 0.99
R0092:Tnrc6b UTSW 15 80918528 missense probably damaging 1.00
R0165:Tnrc6b UTSW 15 80858670 splice site probably null
R0238:Tnrc6b UTSW 15 80887864 missense probably damaging 1.00
R0238:Tnrc6b UTSW 15 80887864 missense probably damaging 1.00
R0257:Tnrc6b UTSW 15 80894355 missense possibly damaging 0.80
R0418:Tnrc6b UTSW 15 80913323 missense probably benign 0.27
R0432:Tnrc6b UTSW 15 80923446 splice site probably benign
R0487:Tnrc6b UTSW 15 80880675 missense probably benign 0.01
R0498:Tnrc6b UTSW 15 80858719 missense probably damaging 0.98
R0528:Tnrc6b UTSW 15 80879403 missense probably benign 0.00
R0533:Tnrc6b UTSW 15 80876653 missense probably benign 0.00
R0571:Tnrc6b UTSW 15 80913338 missense probably damaging 1.00
R0650:Tnrc6b UTSW 15 80784758 missense probably benign 0.33
R0659:Tnrc6b UTSW 15 80923446 splice site probably benign
R0884:Tnrc6b UTSW 15 80902555 small deletion probably benign
R1131:Tnrc6b UTSW 15 80894453 missense possibly damaging 0.45
R1188:Tnrc6b UTSW 15 80879229 missense probably benign
R1479:Tnrc6b UTSW 15 80887032 unclassified probably null
R1564:Tnrc6b UTSW 15 80880168 missense possibly damaging 0.95
R1645:Tnrc6b UTSW 15 80882958 missense probably damaging 0.99
R1924:Tnrc6b UTSW 15 80884206 critical splice acceptor site probably null
R1926:Tnrc6b UTSW 15 80881162 missense probably damaging 1.00
R1928:Tnrc6b UTSW 15 80880723 missense probably damaging 1.00
R1965:Tnrc6b UTSW 15 80880439 missense probably damaging 1.00
R1966:Tnrc6b UTSW 15 80880439 missense probably damaging 1.00
R2072:Tnrc6b UTSW 15 80882965 missense possibly damaging 0.89
R3084:Tnrc6b UTSW 15 80880247 missense probably damaging 1.00
R3552:Tnrc6b UTSW 15 80880247 missense probably damaging 1.00
R3736:Tnrc6b UTSW 15 80889163 splice site probably benign
R3791:Tnrc6b UTSW 15 80923640 missense probably damaging 1.00
R4170:Tnrc6b UTSW 15 80916787 missense probably benign 0.24
R4276:Tnrc6b UTSW 15 80901971 missense probably benign 0.42
R4519:Tnrc6b UTSW 15 80880247 missense probably damaging 1.00
R5380:Tnrc6b UTSW 15 80879565 missense possibly damaging 0.56
R5470:Tnrc6b UTSW 15 80916711 missense possibly damaging 0.89
R5590:Tnrc6b UTSW 15 80876502 missense probably damaging 0.98
R5982:Tnrc6b UTSW 15 80880816 missense probably benign
R6269:Tnrc6b UTSW 15 80880743 missense probably benign 0.42
R6331:Tnrc6b UTSW 15 80879614 missense probably benign 0.00
R6484:Tnrc6b UTSW 15 80879324 missense possibly damaging 0.92
R6622:Tnrc6b UTSW 15 80879184 missense probably damaging 0.99
R6695:Tnrc6b UTSW 15 80879773 missense probably damaging 1.00
R6728:Tnrc6b UTSW 15 80918526 missense probably damaging 1.00
R6776:Tnrc6b UTSW 15 80924119 missense possibly damaging 0.87
R7159:Tnrc6b UTSW 15 80887022 missense possibly damaging 0.92
R7210:Tnrc6b UTSW 15 80929285 missense probably damaging 1.00
R7287:Tnrc6b UTSW 15 80879541 missense possibly damaging 0.83
R7402:Tnrc6b UTSW 15 80884300 missense probably damaging 1.00
X0020:Tnrc6b UTSW 15 80882997 missense probably benign 0.16
X0025:Tnrc6b UTSW 15 80881167 missense probably benign 0.03
Z1088:Tnrc6b UTSW 15 80927690 nonsense probably null
Posted On2015-04-16