Incidental Mutation 'R7594:Tnrc6b'
ID 587647
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 045670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R7594 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80764508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 670 (V670E)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000067689
AA Change: V670E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: V670E

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: ENSMUST00000228124
Meta Mutation Damage Score 0.1710 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
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
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Acsm3 A G 7: 119,384,213 (GRCm39) probably null Het
Acvr2a T A 2: 48,784,749 (GRCm39) L345* probably null Het
App T C 16: 84,876,890 (GRCm39) D167G unknown Het
Arhgef33 A G 17: 80,677,734 (GRCm39) D427G probably damaging Het
Arid2 T C 15: 96,288,875 (GRCm39) S1675P probably damaging Het
Atp8a1 T C 5: 67,808,935 (GRCm39) Y985C Het
AW209491 A G 13: 14,811,831 (GRCm39) D228G probably benign Het
Casc3 G A 11: 98,712,311 (GRCm39) A117T probably benign Het
Cass4 C T 2: 172,271,568 (GRCm39) P645S probably benign Het
Ccar2 A T 14: 70,379,243 (GRCm39) Y553* probably null Het
Cox16 A T 12: 81,521,352 (GRCm39) probably null Het
Cpeb3 A T 19: 37,151,551 (GRCm39) V275E possibly damaging Het
Dido1 A G 2: 180,316,905 (GRCm39) V634A probably benign Het
Dnajb1 G A 8: 84,336,473 (GRCm39) S81N probably benign Het
Dst A G 1: 34,252,094 (GRCm39) K2262E probably damaging Het
Eya3 T C 4: 132,422,136 (GRCm39) V237A probably benign Het
Fbxo31 T A 8: 122,279,107 (GRCm39) D460V probably damaging Het
Fcgbpl1 T C 7: 27,830,885 (GRCm39) C33R probably damaging Het
Gabrg3 A T 7: 56,632,443 (GRCm39) N168K possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm10134 T C 2: 28,396,372 (GRCm39) M89T unknown Het
Kif17 T C 4: 138,005,236 (GRCm39) L267P probably damaging Het
Ksr2 C A 5: 117,693,131 (GRCm39) T193N possibly damaging Het
Lmtk2 T C 5: 144,110,564 (GRCm39) L428P probably damaging Het
Mdn1 G T 4: 32,696,359 (GRCm39) L1247F probably benign Het
Med24 T C 11: 98,605,923 (GRCm39) Y323C probably damaging Het
Mthfd2 A G 6: 83,283,665 (GRCm39) V339A probably benign Het
Mtus2 G T 5: 148,014,216 (GRCm39) R336S probably benign Het
Muc16 T C 9: 18,556,358 (GRCm39) T3312A unknown Het
Nacad A G 11: 6,552,457 (GRCm39) S245P probably damaging Het
Nacc1 T C 8: 85,401,631 (GRCm39) D394G probably damaging Het
Nfatc2 A G 2: 168,365,268 (GRCm39) V582A probably damaging Het
Nid2 T A 14: 19,818,791 (GRCm39) D428E probably benign Het
Or10ag57 A G 2: 87,218,613 (GRCm39) H188R probably damaging Het
Or4a80 T A 2: 89,582,906 (GRCm39) T89S probably benign Het
Or56a4 A G 7: 104,806,880 (GRCm39) L3S probably benign Het
Osbpl5 A T 7: 143,247,534 (GRCm39) L768Q probably benign Het
Plch2 C T 4: 155,091,484 (GRCm39) V210I probably damaging Het
Plekhh1 C T 12: 79,123,277 (GRCm39) T1153I possibly damaging Het
Ppp1r14c T C 10: 3,316,670 (GRCm39) S2P possibly damaging Het
Pramel26 A T 4: 143,539,286 (GRCm39) I69N probably damaging Het
Psmd5 G T 2: 34,750,741 (GRCm39) H239Q probably benign Het
Ptcd2 C A 13: 99,456,790 (GRCm39) A345S possibly damaging Het
Sap30l G A 11: 57,700,947 (GRCm39) probably null Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Slc2a9 A G 5: 38,508,634 (GRCm39) I470T probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Syne1 A G 10: 5,165,190 (GRCm39) probably null Het
Tg T A 15: 66,601,432 (GRCm39) D1766E probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tlr6 T C 5: 65,110,594 (GRCm39) Y771C probably damaging Het
Top2b A G 14: 16,428,587 (GRCm38) T1522A probably benign Het
Tpcn1 A G 5: 120,694,595 (GRCm39) M158T possibly damaging Het
Ttn T C 2: 76,557,186 (GRCm39) I29940V probably benign Het
Ttn G A 2: 76,581,698 (GRCm39) T23065I probably damaging Het
Umodl1 A G 17: 31,173,779 (GRCm39) S20G probably benign Het
Uts2r G T 11: 121,052,191 (GRCm39) V352F possibly damaging Het
Vmn1r67 T A 7: 10,181,342 (GRCm39) M202K possibly damaging Het
Vmn2r107 T C 17: 20,580,635 (GRCm39) V524A probably benign Het
Zc3h12d C A 10: 7,738,382 (GRCm39) D229E probably damaging Het
Zfp541 A G 7: 15,810,311 (GRCm39) D116G probably damaging Het
Zfp971 A G 2: 177,675,793 (GRCm39) E464G possibly 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
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
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'- GTTGGAGGTCAAAGCACTGG -3'
(R):5'- TCCTCCCCAGTTAGAAGAGTTG -3'

Sequencing Primer
(F):5'- GGTCAAAGCACTGGAAGCAACC -3'
(R):5'- CTCCCCAGTTAGAAGAGTTGTTGTTC -3'
Posted On 2019-10-24