Incidental Mutation 'IGL02253:Tnrc6b'
ID 286507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02253
Quality Score
Status
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80760742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
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: 119,807,182 (GRCm39) E76G probably benign Het
Adamtsl2 A T 2: 26,988,709 (GRCm39) T587S possibly damaging Het
Adgre4 T A 17: 56,067,573 (GRCm39) M9K probably benign Het
Aff2 T A X: 68,874,397 (GRCm39) V447E probably benign Het
Arhgef10l G T 4: 140,271,595 (GRCm39) S425* probably null Het
Cabcoco1 T C 10: 68,272,107 (GRCm39) probably null Het
Calcr T A 6: 3,707,523 (GRCm39) H259L probably benign Het
Cdc42bpa T A 1: 179,859,161 (GRCm39) probably benign Het
Cntnap5b C T 1: 100,091,936 (GRCm39) H540Y possibly damaging Het
Cyp2a22 A T 7: 26,637,662 (GRCm39) probably benign Het
Ddx3x T C X: 13,151,207 (GRCm39) probably benign Het
Dnajc11 T A 4: 152,034,976 (GRCm39) Y28* probably null Het
Dock11 T C X: 35,304,781 (GRCm39) F1472S probably damaging Het
Dusp18 T C 11: 3,847,576 (GRCm39) *189Q probably null Het
Dzip3 A T 16: 48,765,287 (GRCm39) Y476N probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Evc2 T A 5: 37,535,771 (GRCm39) probably benign Het
Fam151b A T 13: 92,614,435 (GRCm39) Y18N probably damaging Het
Gk5 T C 9: 96,019,824 (GRCm39) F120S probably damaging Het
Itprid2 A G 2: 79,490,788 (GRCm39) T969A probably damaging Het
Kcna3 T C 3: 106,944,727 (GRCm39) L330P probably damaging Het
Kctd20 A G 17: 29,180,460 (GRCm39) N7S probably benign Het
Kmt2b G T 7: 30,281,152 (GRCm39) R1276S probably damaging Het
Kmt2d C T 15: 98,756,056 (GRCm39) probably benign Het
L2hgdh G A 12: 69,752,534 (GRCm39) probably benign Het
Lifr T G 15: 7,220,085 (GRCm39) V905G probably damaging Het
Mcm3ap T A 10: 76,305,899 (GRCm39) V4E probably benign Het
Nrip3 A C 7: 109,360,951 (GRCm39) probably null Het
Nsun2 T G 13: 69,767,658 (GRCm39) V204G possibly damaging Het
Nup54 A G 5: 92,565,310 (GRCm39) probably null Het
Or5p69 T A 7: 107,967,261 (GRCm39) V188E possibly damaging Het
Or8c16 T A 9: 38,131,031 (GRCm39) M304K probably benign Het
Pdcl3 A G 1: 39,034,011 (GRCm39) D51G probably benign Het
Pdlim1 T C 19: 40,218,974 (GRCm39) E219G probably damaging Het
Pld4 A C 12: 112,733,141 (GRCm39) K239T probably damaging Het
Rgsl1 T C 1: 153,669,513 (GRCm39) Y291C probably damaging Het
Rnf213 C A 11: 119,331,476 (GRCm39) H2228Q probably benign Het
Rnf222 T A 11: 68,783,862 (GRCm39) I143N probably damaging Het
Sirt7 A G 11: 120,511,693 (GRCm39) I13T probably benign Het
Slfn10-ps A G 11: 82,919,890 (GRCm39) noncoding transcript Het
Slx4ip T C 2: 136,842,195 (GRCm39) probably null Het
Spata18 G T 5: 73,825,939 (GRCm39) S164I possibly damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Stk26 T C X: 49,975,565 (GRCm39) L212P probably damaging Het
Tmsb15a T C X: 134,620,451 (GRCm39) I56V probably benign Het
Tubb3 T C 8: 124,147,559 (GRCm39) M164T probably benign Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zyg11a A C 4: 108,040,892 (GRCm39) V685G probably null Het
Other mutations in Tnrc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Tnrc6b APN 15 80,807,779 (GRCm39) missense probably damaging 1.00
IGL01402:Tnrc6b APN 15 80,764,745 (GRCm39) missense possibly damaging 0.71
IGL01505:Tnrc6b APN 15 80,764,164 (GRCm39) missense probably benign 0.00
IGL01516:Tnrc6b APN 15 80,786,823 (GRCm39) missense possibly damaging 0.93
IGL01584:Tnrc6b APN 15 80,763,883 (GRCm39) missense probably benign 0.01
IGL01681:Tnrc6b APN 15 80,763,512 (GRCm39) splice site probably null
IGL01909:Tnrc6b APN 15 80,786,184 (GRCm39) missense possibly damaging 0.88
IGL01943:Tnrc6b APN 15 80,811,896 (GRCm39) nonsense probably null
IGL02260:Tnrc6b APN 15 80,764,372 (GRCm39) missense probably damaging 0.99
IGL02437:Tnrc6b APN 15 80,764,658 (GRCm39) missense probably damaging 1.00
IGL02541:Tnrc6b APN 15 80,764,032 (GRCm39) missense probably benign 0.00
IGL02542:Tnrc6b APN 15 80,786,553 (GRCm39) missense possibly damaging 0.83
grosser UTSW 15 80,813,486 (GRCm39) missense probably damaging 1.00
heiliger UTSW 15 80,811,942 (GRCm39) critical splice donor site probably null
PIT1430001:Tnrc6b UTSW 15 80,813,387 (GRCm39) missense probably damaging 0.99
R0092:Tnrc6b UTSW 15 80,802,729 (GRCm39) missense probably damaging 1.00
R0165:Tnrc6b UTSW 15 80,742,871 (GRCm39) splice site probably null
R0238:Tnrc6b UTSW 15 80,772,065 (GRCm39) missense probably damaging 1.00
R0238:Tnrc6b UTSW 15 80,772,065 (GRCm39) missense probably damaging 1.00
R0257:Tnrc6b UTSW 15 80,778,556 (GRCm39) missense possibly damaging 0.80
R0418:Tnrc6b UTSW 15 80,797,524 (GRCm39) missense probably benign 0.27
R0432:Tnrc6b UTSW 15 80,807,647 (GRCm39) splice site probably benign
R0487:Tnrc6b UTSW 15 80,764,876 (GRCm39) missense probably benign 0.01
R0498:Tnrc6b UTSW 15 80,742,920 (GRCm39) missense probably damaging 0.98
R0528:Tnrc6b UTSW 15 80,763,604 (GRCm39) missense probably benign 0.00
R0533:Tnrc6b UTSW 15 80,760,854 (GRCm39) missense probably benign 0.00
R0571:Tnrc6b UTSW 15 80,797,539 (GRCm39) missense probably damaging 1.00
R0650:Tnrc6b UTSW 15 80,668,959 (GRCm39) missense probably benign 0.33
R0659:Tnrc6b UTSW 15 80,807,647 (GRCm39) splice site probably benign
R0884:Tnrc6b UTSW 15 80,786,756 (GRCm39) small deletion probably benign
R1131:Tnrc6b UTSW 15 80,778,654 (GRCm39) missense possibly damaging 0.45
R1188:Tnrc6b UTSW 15 80,763,430 (GRCm39) missense probably benign
R1479:Tnrc6b UTSW 15 80,771,233 (GRCm39) splice site probably null
R1564:Tnrc6b UTSW 15 80,764,369 (GRCm39) missense possibly damaging 0.95
R1645:Tnrc6b UTSW 15 80,767,159 (GRCm39) missense probably damaging 0.99
R1924:Tnrc6b UTSW 15 80,768,407 (GRCm39) critical splice acceptor site probably null
R1926:Tnrc6b UTSW 15 80,765,363 (GRCm39) missense probably damaging 1.00
R1928:Tnrc6b UTSW 15 80,764,924 (GRCm39) missense probably damaging 1.00
R1965:Tnrc6b UTSW 15 80,764,640 (GRCm39) missense probably damaging 1.00
R1966:Tnrc6b UTSW 15 80,764,640 (GRCm39) missense probably damaging 1.00
R2072:Tnrc6b UTSW 15 80,767,166 (GRCm39) missense possibly damaging 0.89
R3084:Tnrc6b UTSW 15 80,764,448 (GRCm39) missense probably damaging 1.00
R3552:Tnrc6b UTSW 15 80,764,448 (GRCm39) missense probably damaging 1.00
R3736:Tnrc6b UTSW 15 80,773,364 (GRCm39) splice site probably benign
R3791:Tnrc6b UTSW 15 80,807,841 (GRCm39) missense probably damaging 1.00
R4170:Tnrc6b UTSW 15 80,800,988 (GRCm39) missense probably benign 0.24
R4276:Tnrc6b UTSW 15 80,786,172 (GRCm39) missense probably benign 0.42
R4519:Tnrc6b UTSW 15 80,764,448 (GRCm39) missense probably damaging 1.00
R5380:Tnrc6b UTSW 15 80,763,766 (GRCm39) missense possibly damaging 0.56
R5470:Tnrc6b UTSW 15 80,800,912 (GRCm39) missense possibly damaging 0.89
R5590:Tnrc6b UTSW 15 80,760,703 (GRCm39) missense probably damaging 0.98
R5982:Tnrc6b UTSW 15 80,765,017 (GRCm39) missense probably benign
R6269:Tnrc6b UTSW 15 80,764,944 (GRCm39) missense probably benign 0.42
R6331:Tnrc6b UTSW 15 80,763,815 (GRCm39) missense probably benign 0.00
R6484:Tnrc6b UTSW 15 80,763,525 (GRCm39) missense possibly damaging 0.92
R6622:Tnrc6b UTSW 15 80,763,385 (GRCm39) missense probably damaging 0.99
R6695:Tnrc6b UTSW 15 80,763,974 (GRCm39) missense probably damaging 1.00
R6728:Tnrc6b UTSW 15 80,802,727 (GRCm39) missense probably damaging 1.00
R6776:Tnrc6b UTSW 15 80,808,320 (GRCm39) missense possibly damaging 0.87
R7159:Tnrc6b UTSW 15 80,771,223 (GRCm39) missense possibly damaging 0.92
R7210:Tnrc6b UTSW 15 80,813,486 (GRCm39) missense probably damaging 1.00
R7287:Tnrc6b UTSW 15 80,763,742 (GRCm39) missense possibly damaging 0.83
R7402:Tnrc6b UTSW 15 80,768,501 (GRCm39) missense probably damaging 1.00
R7479:Tnrc6b UTSW 15 80,773,327 (GRCm39) missense probably benign 0.13
R7533:Tnrc6b UTSW 15 80,811,942 (GRCm39) critical splice donor site probably null
R7571:Tnrc6b UTSW 15 80,813,594 (GRCm39) missense probably benign
R7594:Tnrc6b UTSW 15 80,764,508 (GRCm39) missense possibly damaging 0.66
R7831:Tnrc6b UTSW 15 80,764,580 (GRCm39) missense possibly damaging 0.49
R8208:Tnrc6b UTSW 15 80,742,901 (GRCm39) missense possibly damaging 0.53
R8276:Tnrc6b UTSW 15 80,764,918 (GRCm39) missense probably benign 0.00
R8295:Tnrc6b UTSW 15 80,797,565 (GRCm39) missense probably damaging 1.00
R8351:Tnrc6b UTSW 15 80,807,691 (GRCm39) missense probably damaging 0.99
R8423:Tnrc6b UTSW 15 80,813,619 (GRCm39) missense unknown
R8451:Tnrc6b UTSW 15 80,807,691 (GRCm39) missense probably damaging 0.99
R8725:Tnrc6b UTSW 15 80,760,653 (GRCm39) missense probably damaging 1.00
R8872:Tnrc6b UTSW 15 80,802,290 (GRCm39) missense probably benign 0.23
R9029:Tnrc6b UTSW 15 80,763,179 (GRCm39) missense possibly damaging 0.83
R9057:Tnrc6b UTSW 15 80,763,349 (GRCm39) missense probably benign
R9240:Tnrc6b UTSW 15 80,764,262 (GRCm39) missense probably damaging 0.98
R9450:Tnrc6b UTSW 15 80,764,637 (GRCm39) missense probably benign 0.01
R9539:Tnrc6b UTSW 15 80,760,544 (GRCm39) missense probably damaging 0.99
R9646:Tnrc6b UTSW 15 80,773,266 (GRCm39) missense possibly damaging 0.89
X0020:Tnrc6b UTSW 15 80,767,198 (GRCm39) missense probably benign 0.16
X0025:Tnrc6b UTSW 15 80,765,368 (GRCm39) missense probably benign 0.03
Z1088:Tnrc6b UTSW 15 80,811,891 (GRCm39) nonsense probably null
Z1177:Tnrc6b UTSW 15 80,742,900 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16