Incidental Mutation 'R1564:Tnrc6b'
ID 175150
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 039603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1564 (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 80764369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 624 (N624D)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000067689
AA Change: N624D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: N624D

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Lrrc9 A G 12: 72,533,827 (GRCm39) E1032G probably damaging Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Oprl1 T C 2: 181,360,733 (GRCm39) I222T possibly damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Pmm1 A G 15: 81,840,401 (GRCm39) Y55H probably damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Rec8 T C 14: 55,859,732 (GRCm39) probably null Het
Reck T C 4: 43,912,061 (GRCm39) I190T probably benign Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S 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
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'- TGGCCCTCAGGACAATAATGACAAC -3'
(R):5'- GGCACCTCTTCAATATCCCACACTG -3'

Sequencing Primer
(F):5'- TGGAGTGGTCCAAACCAAC -3'
(R):5'- AATATCCCACACTGTGTCCTG -3'
Posted On 2014-04-24