Incidental Mutation 'R0143:Tnrc6c'
ID 22459
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 038428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0143 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 117545115-117654265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 117643811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 1481 (N1481H)
Ref Sequence ENSEMBL: ENSMUSP00000101951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344] [ENSMUST00000138299]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026658
AA Change: N1481H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: N1481H

DomainStartEndE-ValueType
coiled coil region 1 32 N/A INTRINSIC
low complexity region 37 58 N/A INTRINSIC
low complexity region 110 132 N/A INTRINSIC
low complexity region 248 257 N/A INTRINSIC
low complexity region 298 318 N/A INTRINSIC
low complexity region 394 408 N/A INTRINSIC
low complexity region 440 457 N/A INTRINSIC
internal_repeat_1 472 573 2.14e-5 PROSPERO
low complexity region 594 614 N/A INTRINSIC
low complexity region 621 632 N/A INTRINSIC
internal_repeat_2 639 704 5.49e-5 PROSPERO
internal_repeat_1 799 902 2.14e-5 PROSPERO
low complexity region 964 981 N/A INTRINSIC
internal_repeat_2 991 1051 5.49e-5 PROSPERO
low complexity region 1063 1079 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
UBA 1145 1182 3.68e-4 SMART
Pfam:M_domain 1232 1459 6.8e-77 PFAM
Pfam:TNRC6-PABC_bdg 1468 1646 4.1e-75 PFAM
Pfam:TNRC6-PABC_bdg 1643 1722 3.7e-33 PFAM
RRM 1725 1792 1.81e-2 SMART
low complexity region 1813 1823 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106344
AA Change: N1481H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: N1481H

DomainStartEndE-ValueType
coiled coil region 1 32 N/A INTRINSIC
low complexity region 37 58 N/A INTRINSIC
low complexity region 110 132 N/A INTRINSIC
low complexity region 248 257 N/A INTRINSIC
low complexity region 298 318 N/A INTRINSIC
low complexity region 394 408 N/A INTRINSIC
low complexity region 440 457 N/A INTRINSIC
internal_repeat_1 472 573 2.14e-5 PROSPERO
low complexity region 594 614 N/A INTRINSIC
low complexity region 621 632 N/A INTRINSIC
internal_repeat_2 639 704 5.49e-5 PROSPERO
internal_repeat_1 799 902 2.14e-5 PROSPERO
low complexity region 964 981 N/A INTRINSIC
internal_repeat_2 991 1051 5.49e-5 PROSPERO
low complexity region 1063 1079 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
UBA 1145 1182 3.68e-4 SMART
Pfam:M_domain 1232 1459 6.8e-77 PFAM
Pfam:TNRC6-PABC_bdg 1468 1646 4.1e-75 PFAM
Pfam:TNRC6-PABC_bdg 1643 1722 3.7e-33 PFAM
RRM 1725 1792 1.81e-2 SMART
low complexity region 1813 1823 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138299
AA Change: N1313H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: N1313H

DomainStartEndE-ValueType
low complexity region 88 97 N/A INTRINSIC
low complexity region 138 158 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
low complexity region 280 297 N/A INTRINSIC
internal_repeat_1 312 413 9.45e-5 PROSPERO
low complexity region 434 454 N/A INTRINSIC
low complexity region 461 472 N/A INTRINSIC
internal_repeat_1 639 742 9.45e-5 PROSPERO
low complexity region 804 821 N/A INTRINSIC
low complexity region 903 919 N/A INTRINSIC
low complexity region 951 965 N/A INTRINSIC
UBA 985 1022 3.68e-4 SMART
Pfam:M_domain 1036 1293 1.7e-53 PFAM
low complexity region 1397 1406 N/A INTRINSIC
PDB:3KTP|B 1422 1443 7e-7 PDB
low complexity region 1507 1518 N/A INTRINSIC
low complexity region 1531 1552 N/A INTRINSIC
RRM 1557 1624 1.81e-2 SMART
low complexity region 1645 1655 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141287
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (76/78)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete neonatal lethality with cyanosis, respiratory distress and thickened mesenchyme in air sacs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,988,288 (GRCm39) I145N probably benign Het
Ankrd1 G A 19: 36,096,713 (GRCm39) A38V probably benign Het
Ankrd34b A G 13: 92,576,268 (GRCm39) E500G probably damaging Het
Arhgef12 T C 9: 42,916,890 (GRCm39) T419A probably damaging Het
B3galt2 A T 1: 143,523,072 (GRCm39) N403Y possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
C4b G A 17: 34,953,193 (GRCm39) probably benign Het
Cacna1e A T 1: 154,324,693 (GRCm39) probably null Het
Cdh3 T C 8: 107,237,857 (GRCm39) V17A probably benign Het
Cog7 A T 7: 121,550,387 (GRCm39) L379Q probably damaging Het
Cul9 T C 17: 46,837,336 (GRCm39) N1044S possibly damaging Het
Cyp4b1 C T 4: 115,493,071 (GRCm39) D258N probably damaging Het
Ddx39a T C 8: 84,447,179 (GRCm39) V113A probably benign Het
Dennd4b A T 3: 90,179,671 (GRCm39) H643L probably damaging Het
Dpy19l3 T C 7: 35,413,640 (GRCm39) T334A probably benign Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Dtx4 G A 19: 12,463,846 (GRCm39) T312I probably damaging Het
Dusp18 C T 11: 3,847,243 (GRCm39) R78C probably benign Het
Fes A C 7: 80,033,643 (GRCm39) F203V probably benign Het
Fhad1 C A 4: 141,656,957 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,526 (GRCm39) silent Het
Gm5828 T C 1: 16,838,579 (GRCm39) noncoding transcript Het
Gsdma A C 11: 98,557,080 (GRCm39) E65A probably damaging Het
Hck T A 2: 152,976,140 (GRCm39) probably null Het
Henmt1 A T 3: 108,861,118 (GRCm39) H47L probably damaging Het
Hivep2 T C 10: 14,005,099 (GRCm39) F566L probably damaging Het
Hnrnpl T C 7: 28,513,617 (GRCm39) probably benign Het
Igsf3 T C 3: 101,342,917 (GRCm39) I518T probably damaging Het
Ireb2 T C 9: 54,793,193 (GRCm39) F223L probably benign Het
Isoc2a T C 7: 4,894,331 (GRCm39) probably null Het
Krt73 T A 15: 101,709,208 (GRCm39) R200W probably damaging Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrp1 A G 10: 127,429,811 (GRCm39) F420L probably damaging Het
Mep1b T C 18: 21,228,164 (GRCm39) probably benign Het
Mex3a G T 3: 88,443,562 (GRCm39) A213S probably benign Het
Mmp13 T C 9: 7,276,558 (GRCm39) F218L probably damaging Het
Ncf1 G T 5: 134,255,991 (GRCm39) probably benign Het
Notch2 A G 3: 98,053,433 (GRCm39) D2032G probably damaging Het
Or10h28 T C 17: 33,488,471 (GRCm39) S258P probably damaging Het
Or5p1 A G 7: 107,916,202 (GRCm39) I34V probably benign Het
Or9i1b A C 19: 13,896,614 (GRCm39) I77L probably damaging Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Pex5 A T 6: 124,375,448 (GRCm39) W525R probably damaging Het
Plcb4 T A 2: 135,818,131 (GRCm39) I799N probably damaging Het
Poldip3 G A 15: 83,012,144 (GRCm39) L372F probably damaging Het
Polg2 C A 11: 106,668,352 (GRCm39) V174L probably benign Het
Prrt4 C G 6: 29,170,670 (GRCm39) G594A probably damaging Het
Prss1 A G 6: 41,440,522 (GRCm39) D199G probably damaging Het
Rbms2 T A 10: 127,973,823 (GRCm39) Q207L probably benign Het
Retreg2 A G 1: 75,123,074 (GRCm39) D334G possibly damaging Het
Slc6a15 T G 10: 103,253,929 (GRCm39) C622G probably benign Het
Spdya T A 17: 71,865,635 (GRCm39) D84E probably damaging Het
Stat3 A T 11: 100,785,982 (GRCm39) S432T possibly damaging Het
Tiam1 A T 16: 89,695,088 (GRCm39) V123E probably benign Het
Tnpo3 A G 6: 29,565,651 (GRCm39) probably benign Het
Top3b T C 16: 16,701,389 (GRCm39) S234P probably damaging Het
Tor1aip2 A T 1: 155,935,294 (GRCm39) T10S probably benign Het
Tpsab1 T A 17: 25,562,418 (GRCm39) H303L probably benign Het
Traf3 T A 12: 111,228,010 (GRCm39) V407D probably damaging Het
Trim33 T A 3: 103,259,417 (GRCm39) D1035E probably benign Het
Ttc38 T C 15: 85,737,920 (GRCm39) V402A possibly damaging Het
Ube4b C T 4: 149,439,914 (GRCm39) R646H possibly damaging Het
Usp8 C A 2: 126,597,009 (GRCm39) probably benign Het
Zdbf2 A T 1: 63,347,233 (GRCm39) I1871F probably benign Het
Zfp345 T A 2: 150,314,475 (GRCm39) Q354L probably benign Het
Zfp462 C A 4: 55,023,402 (GRCm39) probably benign Het
Zfp81 G A 17: 33,554,095 (GRCm39) H240Y possibly damaging Het
Zfp830 A G 11: 82,655,994 (GRCm39) D266G possibly damaging Het
Other mutations in Tnrc6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Tnrc6c APN 11 117,605,011 (GRCm39) missense possibly damaging 0.91
IGL01013:Tnrc6c APN 11 117,612,855 (GRCm39) missense probably benign 0.44
IGL01092:Tnrc6c APN 11 117,612,811 (GRCm39) missense probably damaging 0.99
IGL01383:Tnrc6c APN 11 117,605,083 (GRCm39) missense probably benign 0.37
IGL01395:Tnrc6c APN 11 117,613,939 (GRCm39) missense probably benign 0.08
IGL01726:Tnrc6c APN 11 117,640,161 (GRCm39) splice site probably benign
IGL01869:Tnrc6c APN 11 117,646,274 (GRCm39) missense possibly damaging 0.65
IGL02108:Tnrc6c APN 11 117,612,025 (GRCm39) missense probably benign 0.29
IGL02457:Tnrc6c APN 11 117,613,803 (GRCm39) missense probably benign 0.28
IGL02612:Tnrc6c APN 11 117,633,826 (GRCm39) missense possibly damaging 0.95
IGL02748:Tnrc6c APN 11 117,622,996 (GRCm39) missense probably benign 0.00
IGL03160:Tnrc6c APN 11 117,640,651 (GRCm39) splice site probably benign
rodion UTSW 11 117,629,176 (GRCm39) critical splice donor site probably null
F5770:Tnrc6c UTSW 11 117,614,152 (GRCm39) missense probably damaging 1.00
K3955:Tnrc6c UTSW 11 117,651,564 (GRCm39) missense probably damaging 0.99
R0015:Tnrc6c UTSW 11 117,612,284 (GRCm39) missense probably damaging 0.98
R0277:Tnrc6c UTSW 11 117,630,707 (GRCm39) missense probably damaging 1.00
R0323:Tnrc6c UTSW 11 117,630,707 (GRCm39) missense probably damaging 1.00
R0464:Tnrc6c UTSW 11 117,651,375 (GRCm39) missense probably damaging 1.00
R0699:Tnrc6c UTSW 11 117,613,447 (GRCm39) missense probably benign 0.02
R1015:Tnrc6c UTSW 11 117,612,748 (GRCm39) missense possibly damaging 0.89
R1201:Tnrc6c UTSW 11 117,612,500 (GRCm39) missense probably damaging 0.96
R1297:Tnrc6c UTSW 11 117,624,529 (GRCm39) missense possibly damaging 0.52
R1560:Tnrc6c UTSW 11 117,650,463 (GRCm39) missense probably damaging 1.00
R1596:Tnrc6c UTSW 11 117,648,867 (GRCm39) missense probably damaging 1.00
R1758:Tnrc6c UTSW 11 117,651,556 (GRCm39) missense probably benign 0.09
R1892:Tnrc6c UTSW 11 117,605,188 (GRCm39) missense probably benign
R1901:Tnrc6c UTSW 11 117,613,831 (GRCm39) missense probably damaging 0.98
R1935:Tnrc6c UTSW 11 117,646,849 (GRCm39) missense possibly damaging 0.91
R1936:Tnrc6c UTSW 11 117,646,849 (GRCm39) missense possibly damaging 0.91
R1937:Tnrc6c UTSW 11 117,646,849 (GRCm39) missense possibly damaging 0.91
R1940:Tnrc6c UTSW 11 117,646,849 (GRCm39) missense possibly damaging 0.91
R3622:Tnrc6c UTSW 11 117,640,451 (GRCm39) missense probably damaging 1.00
R3711:Tnrc6c UTSW 11 117,613,950 (GRCm39) missense probably benign 0.00
R3725:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3775:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3776:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3836:Tnrc6c UTSW 11 117,614,055 (GRCm39) missense probably benign 0.20
R3844:Tnrc6c UTSW 11 117,646,309 (GRCm39) missense probably damaging 1.00
R3852:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3928:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3929:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3937:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R3943:Tnrc6c UTSW 11 117,614,355 (GRCm39) missense probably damaging 0.96
R4501:Tnrc6c UTSW 11 117,613,324 (GRCm39) missense probably damaging 1.00
R4510:Tnrc6c UTSW 11 117,633,784 (GRCm39) missense possibly damaging 0.68
R4511:Tnrc6c UTSW 11 117,633,784 (GRCm39) missense possibly damaging 0.68
R4654:Tnrc6c UTSW 11 117,611,797 (GRCm39) missense probably benign
R4765:Tnrc6c UTSW 11 117,633,753 (GRCm39) missense probably benign 0.09
R4824:Tnrc6c UTSW 11 117,613,731 (GRCm39) missense probably damaging 0.98
R5004:Tnrc6c UTSW 11 117,611,872 (GRCm39) missense probably benign 0.44
R5094:Tnrc6c UTSW 11 117,611,872 (GRCm39) missense probably benign 0.00
R5130:Tnrc6c UTSW 11 117,629,176 (GRCm39) critical splice donor site probably null
R5234:Tnrc6c UTSW 11 117,651,555 (GRCm39) missense probably benign 0.42
R5235:Tnrc6c UTSW 11 117,651,555 (GRCm39) missense probably benign 0.42
R5345:Tnrc6c UTSW 11 117,614,113 (GRCm39) missense possibly damaging 0.80
R5359:Tnrc6c UTSW 11 117,649,731 (GRCm39) splice site silent
R5428:Tnrc6c UTSW 11 117,591,588 (GRCm39) start codon destroyed probably null
R5548:Tnrc6c UTSW 11 117,651,669 (GRCm39) missense possibly damaging 0.96
R5587:Tnrc6c UTSW 11 117,640,097 (GRCm39) nonsense probably null
R5875:Tnrc6c UTSW 11 117,650,534 (GRCm39) missense probably damaging 0.99
R5947:Tnrc6c UTSW 11 117,613,345 (GRCm39) missense probably damaging 1.00
R6135:Tnrc6c UTSW 11 117,626,831 (GRCm39) missense probably damaging 0.97
R6354:Tnrc6c UTSW 11 117,640,440 (GRCm39) missense possibly damaging 0.90
R6389:Tnrc6c UTSW 11 117,613,567 (GRCm39) missense probably damaging 0.99
R7027:Tnrc6c UTSW 11 117,624,444 (GRCm39) missense probably damaging 1.00
R7048:Tnrc6c UTSW 11 117,612,800 (GRCm39) missense probably benign 0.41
R7098:Tnrc6c UTSW 11 117,604,952 (GRCm39) missense probably benign 0.03
R7315:Tnrc6c UTSW 11 117,614,354 (GRCm39) missense probably benign 0.11
R7378:Tnrc6c UTSW 11 117,632,606 (GRCm39) missense probably benign 0.03
R7386:Tnrc6c UTSW 11 117,612,780 (GRCm39) missense probably benign
R7515:Tnrc6c UTSW 11 117,632,507 (GRCm39) missense probably benign 0.03
R7665:Tnrc6c UTSW 11 117,611,777 (GRCm39) missense possibly damaging 0.46
R7755:Tnrc6c UTSW 11 117,648,912 (GRCm39) missense probably benign 0.00
R8679:Tnrc6c UTSW 11 117,604,961 (GRCm39) missense probably benign
R8824:Tnrc6c UTSW 11 117,630,680 (GRCm39) splice site probably benign
R8971:Tnrc6c UTSW 11 117,640,089 (GRCm39) missense possibly damaging 0.95
R9261:Tnrc6c UTSW 11 117,605,105 (GRCm39) missense probably damaging 0.99
R9283:Tnrc6c UTSW 11 117,591,630 (GRCm39) missense unknown
R9342:Tnrc6c UTSW 11 117,630,720 (GRCm39) missense probably benign 0.01
R9633:Tnrc6c UTSW 11 117,638,009 (GRCm39) missense probably damaging 1.00
R9761:Tnrc6c UTSW 11 117,623,136 (GRCm39) missense probably benign
V7580:Tnrc6c UTSW 11 117,614,152 (GRCm39) missense probably damaging 1.00
V7581:Tnrc6c UTSW 11 117,614,152 (GRCm39) missense probably damaging 1.00
V7582:Tnrc6c UTSW 11 117,614,152 (GRCm39) missense probably damaging 1.00
V7583:Tnrc6c UTSW 11 117,614,152 (GRCm39) missense probably damaging 1.00
Z1176:Tnrc6c UTSW 11 117,623,003 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TTAGCCAGCATCCCACACCAAATTTA -3'
(R):5'- GCTGTGCAATGGCAGACTCCTTTTC -3'

Sequencing Primer
(F):5'- ttcagaggcaggcagaac -3'
(R):5'- GCATTTGGCACGAGCATAC -3'
Posted On 2013-04-16