Incidental Mutation 'R0571:Tnrc6b'
ID 46489
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 038762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0571 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80797539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1362 (V1362A)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect probably damaging
Transcript: ENSMUST00000067689
AA Change: V1362A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: V1362A

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: ENSMUST00000226442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228071
Predicted Effect unknown
Transcript: ENSMUST00000228124
AA Change: V509A
Meta Mutation Damage Score 0.1716 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 C T 14: 54,500,706 (GRCm39) T165I possibly damaging Het
Acsl5 A G 19: 55,277,343 (GRCm39) probably benign Het
Actl6b C A 5: 137,565,046 (GRCm39) probably benign Het
Atg13 T C 2: 91,509,063 (GRCm39) probably benign Het
Cabyr A G 18: 12,883,909 (GRCm39) E132G probably damaging Het
Cadps2 C T 6: 23,583,411 (GRCm39) V389I probably damaging Het
Capn2 C T 1: 182,298,325 (GRCm39) V647I probably benign Het
Card10 G T 15: 78,671,601 (GRCm39) P621Q possibly damaging Het
Catsperb C G 12: 101,569,033 (GRCm39) H902D possibly damaging Het
Cers3 A G 7: 66,435,805 (GRCm39) M255V possibly damaging Het
Cfh T C 1: 140,030,071 (GRCm39) probably null Het
Chd3 A C 11: 69,252,495 (GRCm39) probably null Het
Chpf2 G T 5: 24,795,425 (GRCm39) R316L probably damaging Het
Clca3a1 T A 3: 144,713,550 (GRCm39) N694Y probably damaging Het
Cplane1 A G 15: 8,289,277 (GRCm39) D2909G unknown Het
Ctbp2 G A 7: 132,616,534 (GRCm39) L44F probably damaging Het
Cttnbp2 T C 6: 18,381,102 (GRCm39) M1365V probably benign Het
D130052B06Rik G A 11: 33,573,922 (GRCm39) R173H probably benign Het
Dchs1 A G 7: 105,421,203 (GRCm39) F406L probably damaging Het
Ddx43 T A 9: 78,321,145 (GRCm39) N384K possibly damaging Het
Drd5 G A 5: 38,477,270 (GRCm39) V88M probably damaging Het
Eefsec A T 6: 88,274,881 (GRCm39) F361Y probably benign Het
Epb41 T C 4: 131,717,215 (GRCm39) D313G probably damaging Het
Etl4 T C 2: 20,748,580 (GRCm39) M104T probably damaging Het
Fabp7 A T 10: 57,661,637 (GRCm39) T37S probably benign Het
Fam186b T C 15: 99,184,834 (GRCm39) T30A probably benign Het
Fam83d G A 2: 158,627,611 (GRCm39) W433* probably null Het
Fmnl2 A T 2: 52,944,503 (GRCm39) T161S probably benign Het
Ghsr C T 3: 27,426,165 (GRCm39) R74C probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Gtpbp4 A T 13: 9,040,722 (GRCm39) probably benign Het
Hamp2 A G 7: 30,623,511 (GRCm39) L17P possibly damaging Het
Heatr1 C A 13: 12,445,121 (GRCm39) S1581R probably damaging Het
Hpf1 T C 8: 61,353,147 (GRCm39) V176A probably benign Het
Hydin T A 8: 111,240,735 (GRCm39) probably null Het
Ighg2c G A 12: 113,252,382 (GRCm39) Q57* probably null Het
Itgb4 A G 11: 115,870,594 (GRCm39) N141S possibly damaging Het
Kif13b G T 14: 64,988,977 (GRCm39) R786L probably damaging Het
Lhx3 C A 2: 26,091,136 (GRCm39) W391L probably damaging Het
Map1s T A 8: 71,365,551 (GRCm39) V152D probably damaging Het
Map4 T C 9: 109,865,834 (GRCm39) M608T probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Mfn1 T C 3: 32,615,621 (GRCm39) I328T probably damaging Het
Mif-ps9 G A 19: 56,743,675 (GRCm39) noncoding transcript Het
Myh4 A T 11: 67,141,157 (GRCm39) I740F possibly damaging Het
Neo1 A G 9: 58,893,069 (GRCm39) V191A probably benign Het
Nfatc4 T C 14: 56,067,485 (GRCm39) V565A probably damaging Het
Nrxn2 G C 19: 6,523,563 (GRCm39) E525D probably damaging Het
Or12k8 T C 2: 36,975,346 (GRCm39) H138R probably benign Het
Pcdhb12 A T 18: 37,570,261 (GRCm39) D469V probably damaging Het
Pcdhb6 G T 18: 37,468,167 (GRCm39) V363L probably benign Het
Pkd1l2 T C 8: 117,808,957 (GRCm39) T78A probably benign Het
Primpol T G 8: 47,034,674 (GRCm39) D418A probably damaging Het
Rbm12b1 G A 4: 12,146,248 (GRCm39) S740N probably benign Het
Rpe65 T C 3: 159,305,986 (GRCm39) L15P probably damaging Het
Rxrb CGCGGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGCGGC 17: 34,251,106 (GRCm39) probably benign Het
Sectm1a A G 11: 120,959,928 (GRCm39) probably benign Het
Sft2d1 C A 17: 8,545,782 (GRCm39) probably benign Het
Slc22a18 A G 7: 143,045,598 (GRCm39) probably benign Het
Slu7 G A 11: 43,332,405 (GRCm39) probably null Het
Smc4 T C 3: 68,931,622 (GRCm39) V572A probably damaging Het
Spire2 T A 8: 124,080,855 (GRCm39) I33N probably damaging Het
Tbck T A 3: 132,458,403 (GRCm39) C678S probably damaging Het
Ttn T C 2: 76,570,326 (GRCm39) K25110E possibly damaging Het
Ugt2b35 A G 5: 87,148,793 (GRCm39) S15G possibly damaging Het
Upf3a T A 8: 13,842,184 (GRCm39) I200K probably damaging Het
Vill G C 9: 118,899,701 (GRCm39) G295A possibly damaging Het
Vmn1r191 A T 13: 22,363,217 (GRCm39) V179D probably damaging Het
Vmn2r74 T C 7: 85,601,629 (GRCm39) T670A probably damaging Het
Zfp169 T C 13: 48,643,166 (GRCm39) T654A possibly damaging Het
Zfp646 A G 7: 127,481,138 (GRCm39) E1105G probably damaging Het
Zyg11b A T 4: 108,117,239 (GRCm39) Y334N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CACTGGAGTATCAGTGGGCTTCTTG -3'
(R):5'- GCCAACAAAACATGCAGAATACTTGGTC -3'

Sequencing Primer
(F):5'- GTCAGAGAATGGTTGAATCCCCC -3'
(R):5'- TTCTTGTGTGGCCACAGATG -3'
Posted On 2013-06-11