Incidental Mutation 'R1965:Tnrc6b'
ID 218316
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 039978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1965 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80764640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 714 (K714R)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect probably damaging
Transcript: ENSMUST00000067689
AA Change: K714R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: K714R

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: ENSMUST00000227546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228071
Predicted Effect probably benign
Transcript: ENSMUST00000228124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228320
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,730 (GRCm39) L157R probably damaging Het
Acot11 A T 4: 106,606,550 (GRCm39) L513Q probably damaging Het
Amd1 A G 10: 40,170,755 (GRCm39) I52T probably benign Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arel1 T A 12: 84,987,173 (GRCm39) probably null Het
Arg1 T A 10: 24,792,762 (GRCm39) probably null Het
Atf1 A T 15: 100,152,052 (GRCm39) M135L probably benign Het
Atf2 T C 2: 73,681,242 (GRCm39) E77G possibly damaging Het
Axin1 G T 17: 26,403,199 (GRCm39) A394S probably damaging Het
Axin1 A T 17: 26,409,202 (GRCm39) Q734L probably damaging Het
Brd8 G C 18: 34,735,819 (GRCm39) A886G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Celf3 T C 3: 94,392,634 (GRCm39) V35A probably damaging Het
Cfap299 T A 5: 98,494,093 (GRCm39) D32E probably damaging Het
Ckap2 T C 8: 22,665,803 (GRCm39) T415A possibly damaging Het
Crybg3 T C 16: 59,323,600 (GRCm39) Y1066C probably damaging Het
Csmd3 T C 15: 47,713,144 (GRCm39) H1506R probably benign Het
Dnah10 A G 5: 124,852,267 (GRCm39) D1808G probably damaging Het
Dsc3 C T 18: 20,113,729 (GRCm39) G398R probably damaging Het
Emc2 A G 15: 43,390,863 (GRCm39) Q293R probably damaging Het
Evc2 A G 5: 37,520,876 (GRCm39) N251D possibly damaging Het
Fam151a A T 4: 106,591,112 (GRCm39) probably benign Het
Fbxw16 T A 9: 109,270,289 (GRCm39) I151F probably damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Foxc2 T A 8: 121,843,413 (GRCm39) S20R probably damaging Het
Fpr-rs6 C T 17: 20,402,918 (GRCm39) G148R probably damaging Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Fyb2 A T 4: 104,770,846 (GRCm39) I54F probably benign Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gldc G A 19: 30,114,513 (GRCm39) R466* probably null Het
Gm12695 T A 4: 96,651,082 (GRCm39) S124C probably benign Het
Gm4846 A T 1: 166,314,533 (GRCm39) I370N possibly damaging Het
Gsdmc3 T C 15: 63,730,296 (GRCm39) T423A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnmb3 T C 3: 32,526,492 (GRCm39) Y233C probably damaging Het
Kidins220 A G 12: 25,044,905 (GRCm39) D191G probably damaging Het
Kmt2a A G 9: 44,732,757 (GRCm39) probably benign Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Myo1f C T 17: 33,817,146 (GRCm39) R730* probably null Het
Ncoa7 C A 10: 30,530,426 (GRCm39) E30* probably null Het
Neurod4 T A 10: 130,106,918 (GRCm39) K119* probably null Het
Npy5r T C 8: 67,133,929 (GRCm39) D288G probably benign Het
Nr3c2 A T 8: 77,636,092 (GRCm39) I398L probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or12j4 C A 7: 140,046,574 (GRCm39) F153L probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or4k35 T C 2: 111,099,938 (GRCm39) Y258C probably damaging Het
Or51v8 A T 7: 103,320,103 (GRCm39) I45N probably damaging Het
Or5g25 T C 2: 85,478,090 (GRCm39) T192A possibly damaging Het
Or5w8 A G 2: 87,687,759 (GRCm39) K80R probably benign Het
Or9m1b A G 2: 87,836,648 (GRCm39) F149S probably damaging Het
P3r3urf G A 4: 116,031,376 (GRCm39) C82Y probably damaging Het
Pcf11 A T 7: 92,310,809 (GRCm39) M393K probably benign Het
Pck2 T C 14: 55,779,964 (GRCm39) V71A probably benign Het
Pdzd8 G T 19: 59,288,554 (GRCm39) L949I probably benign Het
Pdzrn4 G A 15: 92,644,190 (GRCm39) probably null Het
Phospho1 A G 11: 95,721,705 (GRCm39) N125S probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Ppp1r1b A G 11: 98,246,189 (GRCm39) E57G probably damaging Het
Prtg T G 9: 72,755,604 (GRCm39) S269A probably benign Het
Rbbp5 T A 1: 132,422,035 (GRCm39) S312T probably damaging Het
Rbm11 T A 16: 75,395,656 (GRCm39) probably null Het
Retreg1 A G 15: 25,970,250 (GRCm39) T139A probably damaging Het
Riok3 T A 18: 12,270,019 (GRCm39) H120Q probably damaging Het
Rln1 A T 19: 29,311,995 (GRCm39) M1K probably null Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Sccpdh C T 1: 179,511,879 (GRCm39) P117L probably damaging Het
Serac1 T C 17: 6,099,274 (GRCm39) K506E possibly damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Slc1a2 T A 2: 102,570,245 (GRCm39) N174K probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Slc46a2 T A 4: 59,914,249 (GRCm39) S225C probably damaging Het
Smarcc2 G A 10: 128,310,627 (GRCm39) E419K probably damaging Het
Stkld1 T A 2: 26,836,744 (GRCm39) probably null Het
Szt2 A G 4: 118,241,162 (GRCm39) M1704T probably benign Het
Tasor T G 14: 27,164,511 (GRCm39) C272W probably damaging Het
Tfcp2l1 C T 1: 118,580,653 (GRCm39) Q116* probably null Het
Timm44 A G 8: 4,310,603 (GRCm39) M383T possibly damaging Het
Tnpo2 G A 8: 85,771,946 (GRCm39) probably null Het
Wdfy3 A G 5: 102,099,178 (GRCm39) L290P probably damaging Het
Wdr59 A G 8: 112,177,709 (GRCm39) F898L probably damaging Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp879 A T 11: 50,724,355 (GRCm39) C234S 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
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
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'- CGGACTGATTTGGACCCTAG -3'
(R):5'- CAGAAGTCCATCCTTGGTTGG -3'

Sequencing Primer
(F):5'- TAGGGTGCTCTCAAACACTG -3'
(R):5'- AAGTCCATCCTTGGTTGGGTTGG -3'
Posted On 2014-08-01