Incidental Mutation 'R1645:Tnrc6b'
ID 173837
Institutional Source Beutler Lab
Gene Symbol Tnrc6b
Ensembl Gene ENSMUSG00000047888
Gene Name trinucleotide repeat containing 6b
Synonyms 2700090M07Rik, A730065C02Rik, D230019K20Rik
MMRRC Submission 039681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1645 (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 80767159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 975 (T975A)
Ref Sequence ENSEMBL: ENSMUSP00000064336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067689]
AlphaFold Q8BKI2
Predicted Effect probably damaging
Transcript: ENSMUST00000067689
AA Change: T975A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: T975A

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: 95.3%
  • 20x: 89.2%
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
Abca4 A G 3: 121,948,926 (GRCm39) M1732V probably benign Het
Acvr1 A T 2: 58,352,911 (GRCm39) C350S probably damaging Het
Adgrl2 A T 3: 148,571,244 (GRCm39) V130D probably damaging Het
Anapc1 A G 2: 128,500,166 (GRCm39) probably null Het
Asap1 A T 15: 63,961,324 (GRCm39) V1116E probably damaging Het
Bcas1 T A 2: 170,229,087 (GRCm39) D308V probably damaging Het
Brca1 G A 11: 101,400,879 (GRCm39) H1468Y probably benign Het
C2cd5 A G 6: 142,995,852 (GRCm39) C421R probably damaging Het
C4b A G 17: 34,959,571 (GRCm39) S363P probably damaging Het
Camk2b A T 11: 5,922,719 (GRCm39) C484S probably damaging Het
Cby2 C A 14: 75,821,089 (GRCm39) R212L probably benign Het
Ccny T C 18: 9,345,199 (GRCm39) T192A probably damaging Het
Chl1 G T 6: 103,660,141 (GRCm39) A356S probably benign Het
Dst T A 1: 34,264,803 (GRCm39) Y4850N probably damaging Het
Dyrk4 C A 6: 126,871,756 (GRCm39) E171* probably null Het
Entrep3 C A 3: 89,094,154 (GRCm39) D322E possibly damaging Het
Ephb1 A G 9: 101,804,758 (GRCm39) Y928H probably damaging Het
Fam114a2 A T 11: 57,390,621 (GRCm39) N304K probably benign Het
Fras1 A T 5: 96,848,445 (GRCm39) D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 (GRCm39) probably null Het
Gm6358 T C 16: 88,937,967 (GRCm39) W69R unknown Het
Ikbkb C A 8: 23,181,082 (GRCm39) S127I probably damaging Het
Impa1 A T 3: 10,393,501 (GRCm39) M48K possibly damaging Het
Klra2 A T 6: 131,220,857 (GRCm39) probably null Het
Lama1 A T 17: 68,044,677 (GRCm39) Y192F probably benign Het
Lama2 T A 10: 27,244,981 (GRCm39) T267S probably damaging Het
Mroh7 G A 4: 106,577,865 (GRCm39) T271I probably benign Het
Myo9b A G 8: 71,775,622 (GRCm39) E348G probably damaging Het
Nrp2 C T 1: 62,824,283 (GRCm39) P796L probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or10al4 A T 17: 38,037,229 (GRCm39) T114S probably benign Het
Or51i1 A G 7: 103,671,210 (GRCm39) F105S probably damaging Het
Or9k7 T A 10: 130,046,081 (GRCm39) D306V probably damaging Het
P3h2 T A 16: 25,815,982 (GRCm39) H177L probably damaging Het
Pcdhb16 T C 18: 37,612,423 (GRCm39) I461T probably benign Het
Pdlim3 A G 8: 46,349,785 (GRCm39) I32V probably benign Het
Pigu A C 2: 155,170,598 (GRCm39) Y143* probably null Het
Prkd3 A C 17: 79,263,949 (GRCm39) probably null Het
Psrc1 C T 3: 108,292,554 (GRCm39) R116W probably damaging Het
Rab5b A G 10: 128,522,695 (GRCm39) S29P possibly damaging Het
Rbm26 A G 14: 105,388,253 (GRCm39) V403A probably damaging Het
Rbm47 G T 5: 66,184,481 (GRCm39) R41S probably benign Het
Rngtt A G 4: 33,362,939 (GRCm39) I364M probably damaging Het
Ryr2 A T 13: 11,733,368 (GRCm39) C2271* probably null Het
Shcbp1 T A 8: 4,799,645 (GRCm39) Q277L probably benign Het
Sntg1 T C 1: 8,874,155 (GRCm39) T5A probably benign Het
Snx24 T C 18: 53,522,634 (GRCm39) F163S probably benign Het
Srp72 T C 5: 77,146,125 (GRCm39) V581A probably benign Het
Srrt T A 5: 137,300,401 (GRCm39) K59* probably null Het
Vmn1r174 G A 7: 23,453,777 (GRCm39) V148I possibly damaging Het
Vmn2r115 T A 17: 23,565,192 (GRCm39) C360S possibly damaging Het
Vwa8 A T 14: 79,420,427 (GRCm39) Q1709H probably damaging Het
Wdr11 A G 7: 129,215,613 (GRCm39) T526A probably benign Het
Zfp532 C A 18: 65,820,335 (GRCm39) N973K probably benign 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
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'- GGCAGTAGTCCTGTAGCTCTGTCATC -3'
(R):5'- GAGACAAGTTGCCACTTGCAAACC -3'

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