Incidental Mutation 'R6776:Tnrc6b'
ID 531316
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 044892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 80595514-80825286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80808320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1623 (P1623L)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000067689
AA Change: P1623L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: P1623L

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: ENSMUST00000228124
AA Change: P770L
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Bmerb1 T A 16: 13,804,670 (GRCm39) S6T possibly damaging Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Kbtbd12 T C 6: 88,595,248 (GRCm39) D194G probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Slc7a7 C T 14: 54,612,108 (GRCm39) G265D possibly damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Vdr T C 15: 97,767,709 (GRCm39) I94V probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C 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
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
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'- CCGTGAAGGTCAGGATTAGG -3'
(R):5'- AGAGCTTTCATGTCTGCCAAC -3'

Sequencing Primer
(F):5'- CCCTGAGAGTCTTGGTTT -3'
(R):5'- AACTTGCTAACAGGCTGGC -3'
Posted On 2018-08-29