Incidental Mutation 'R9646:Tnrc6b'
ID 726748
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R9646 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80773266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1137 (F1137L)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689] [ENSMUST00000227449]
AlphaFold Q8BKI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000067689
AA Change: F1137L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: F1137L

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 probably benign
Transcript: ENSMUST00000227449
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 A T 3: 148,544,926 (GRCm39) I723N probably damaging Het
Agbl1 G A 7: 76,075,648 (GRCm39) R682Q unknown Het
Ankrd42 A T 7: 92,273,257 (GRCm39) D123E possibly damaging Het
Anxa4 A T 6: 86,730,814 (GRCm39) I121N probably damaging Het
Asic1 T C 15: 99,593,414 (GRCm39) F257S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cckar T C 5: 53,863,608 (GRCm39) T118A probably benign Het
Cfap61 T A 2: 145,854,152 (GRCm39) I388N probably damaging Het
Chrnd A T 1: 87,120,311 (GRCm39) I156F probably damaging Het
Col15a1 T A 4: 47,257,187 (GRCm39) L326Q possibly damaging Het
Dcpp3 A T 17: 24,138,156 (GRCm39) I105L possibly damaging Het
Dnaaf5 T A 5: 139,151,832 (GRCm39) H494Q probably benign Het
Dph5 T A 3: 115,708,692 (GRCm39) Y125N probably damaging Het
Eif4enif1 T C 11: 3,170,280 (GRCm39) V111A probably damaging Het
Etl4 T A 2: 20,802,724 (GRCm39) I1010K probably benign Het
Faf1 T A 4: 109,652,016 (GRCm39) W236R probably damaging Het
Fat4 A G 3: 39,035,813 (GRCm39) D3155G probably damaging Het
Fhip2b T C 14: 70,827,808 (GRCm39) H125R probably damaging Het
Firrm A G 1: 163,822,195 (GRCm39) V32A probably damaging Het
Galnt12 T C 4: 47,120,390 (GRCm39) I491T probably damaging Het
Gm10553 T A 1: 85,077,901 (GRCm39) L6Q probably damaging Het
H2-T10 A T 17: 36,431,157 (GRCm39) I168N probably damaging Het
Hdac9 T A 12: 34,487,167 (GRCm39) Q78L probably damaging Het
Hmx1 C T 5: 35,549,400 (GRCm39) T231M probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Hsd17b13 T C 5: 104,124,973 (GRCm39) K70R probably null Het
Hykk C T 9: 54,853,521 (GRCm39) T281I probably benign Het
Il1r2 A G 1: 40,162,362 (GRCm39) D335G probably damaging Het
Insig2 A C 1: 121,240,040 (GRCm39) L87V probably damaging Het
Insrr A T 3: 87,721,805 (GRCm39) Y1193F probably damaging Het
Itpr1 A G 6: 108,371,845 (GRCm39) Y1173C probably damaging Het
Kcnh8 A G 17: 53,104,573 (GRCm39) N190S probably benign Het
Kntc1 T C 5: 123,897,119 (GRCm39) F161L probably benign Het
Lilra5 T C 7: 4,244,907 (GRCm39) L226P probably damaging Het
Muc2 C T 7: 141,276,643 (GRCm39) A11V probably benign Het
Nrp2 T C 1: 62,777,566 (GRCm39) F124L probably damaging Het
Or52e4 T C 7: 104,706,374 (GRCm39) I307T probably benign Het
Or5m11b T A 2: 85,806,446 (GRCm39) N286K probably benign Het
Or5w15 T A 2: 87,568,512 (GRCm39) D52V probably damaging Het
Or8c19-ps1 T A 9: 38,220,114 (GRCm39) S8T probably damaging Het
Pcdhb17 A T 18: 37,618,471 (GRCm39) N87I possibly damaging Het
Pdgfrb T A 18: 61,211,721 (GRCm39) probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pepd A T 7: 34,620,882 (GRCm39) Q49L possibly damaging Het
Pigo C A 4: 43,017,967 (GRCm39) R1083L probably damaging Het
Pitpnm1 G A 19: 4,153,269 (GRCm39) D142N probably damaging Het
Plod1 C T 4: 148,016,112 (GRCm39) E93K probably benign Het
Pramel11 A T 4: 143,623,634 (GRCm39) V180E probably damaging Het
Rev3l T C 10: 39,698,440 (GRCm39) I979T probably damaging Het
Scrib C T 15: 75,932,492 (GRCm39) G743D probably damaging Het
Septin3 T C 15: 82,170,088 (GRCm39) S205P probably benign Het
Sez6 A G 11: 77,867,632 (GRCm39) K850E probably damaging Het
Sfxn5 T A 6: 85,266,195 (GRCm39) T101S probably damaging Het
Slc6a5 A T 7: 49,567,496 (GRCm39) K317* probably null Het
Sox8 A T 17: 25,786,871 (GRCm39) D277E probably benign Het
Sptbn2 G T 19: 4,795,341 (GRCm39) A1600S probably damaging Het
Syne1 A G 10: 5,179,187 (GRCm39) V4429A possibly damaging Het
Trim43a A G 9: 88,466,392 (GRCm39) R238G probably benign Het
Triobp T C 15: 78,887,934 (GRCm39) L1943P probably damaging Het
Vmn1r125 T C 7: 21,006,261 (GRCm39) V53A possibly damaging Het
Vwa5b1 T A 4: 138,319,420 (GRCm39) N412I probably damaging Het
Yipf7 T A 5: 69,678,424 (GRCm39) T122S probably benign Het
Zfp1005 C T 2: 150,110,104 (GRCm39) H265Y probably benign 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
IGL02253:Tnrc6b APN 15 80,760,742 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCCTAGGCTCATTCCAAAGAGTAG -3'
(R):5'- CCCAATCACCTGTTGACGTC -3'

Sequencing Primer
(F):5'- TTCCAAAGAGTAGAGAGGCTTTGTCC -3'
(R):5'- CCTGTCACCACATTAATATAGGGG -3'
Posted On 2022-10-06