Incidental Mutation 'R1937:Tnrc6c'
ID 213570
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 039955-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1937 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 117545115-117654265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117646849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1450 (D1450G)
Ref Sequence ENSEMBL: ENSMUSP00000115221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344] [ENSMUST00000138299]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026658
AA Change: D1618G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: D1618G

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 possibly damaging
Transcript: ENSMUST00000106344
AA Change: D1618G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: D1618G

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 possibly damaging
Transcript: ENSMUST00000138299
AA Change: D1450G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: D1450G

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: ENSMUST00000141115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141287
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C A 5: 48,531,777 (GRCm39) T35K probably benign Het
Abhd14a A G 9: 106,317,446 (GRCm39) probably benign Het
Abhd8 A G 8: 71,914,506 (GRCm39) F41L possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Actr5 T C 2: 158,477,949 (GRCm39) Y440H possibly damaging Het
Akr1c6 T A 13: 4,496,383 (GRCm39) N81K probably benign Het
Aqp11 T A 7: 97,386,725 (GRCm39) N157I possibly damaging Het
Arhgap10 T C 8: 78,071,282 (GRCm39) E568G probably damaging Het
Asb7 T A 7: 66,329,001 (GRCm39) Q13L probably benign Het
Atf7ip C A 6: 136,537,778 (GRCm39) A345E probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bpifb4 A T 2: 153,785,996 (GRCm39) I259F probably damaging Het
Cand1 A T 10: 119,038,925 (GRCm39) D1218E probably damaging Het
Capg A G 6: 72,535,236 (GRCm39) probably null Het
Cep290 C T 10: 100,333,815 (GRCm39) T289M possibly damaging Het
Cfap69 T C 5: 5,643,818 (GRCm39) Y548C probably damaging Het
Cfap97d1 A T 11: 101,877,989 (GRCm39) H17L probably damaging Het
Cimip2b T A 4: 43,427,586 (GRCm39) K220N probably damaging Het
Clock A G 5: 76,377,340 (GRCm39) L652P probably damaging Het
Col3a1 C T 1: 45,373,453 (GRCm39) probably benign Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Crebrf T C 17: 26,961,442 (GRCm39) S188P probably damaging Het
Crppa G A 12: 36,440,367 (GRCm39) V92I probably benign Het
Cul1 T C 6: 47,485,289 (GRCm39) F307L probably benign Het
Cyb561d2 G A 9: 107,417,515 (GRCm39) R79W probably damaging Het
Cyp3a59 T C 5: 146,031,187 (GRCm39) S117P possibly damaging Het
Ddias A G 7: 92,507,830 (GRCm39) I695T probably benign Het
Dhx29 G A 13: 113,101,864 (GRCm39) G1311D probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Ece2 T A 16: 20,436,616 (GRCm39) V146E probably damaging Het
Eml2 A G 7: 18,937,889 (GRCm39) K586E possibly damaging Het
Eps8l3 A G 3: 107,791,708 (GRCm39) E316G probably benign Het
Fam135b A T 15: 71,493,863 (GRCm39) L22H probably damaging Het
Focad T A 4: 88,319,318 (GRCm39) M1K probably null Het
Fryl A G 5: 73,290,710 (GRCm39) S65P probably damaging Het
Gm14190 C T 11: 99,581,556 (GRCm39) C4Y unknown Het
H2-T5 T A 17: 36,478,899 (GRCm39) T117S probably damaging Het
Ift74 T A 4: 94,550,883 (GRCm39) M345K probably benign Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Kcng1 T C 2: 168,104,941 (GRCm39) T302A probably benign Het
Kif20b T C 19: 34,930,278 (GRCm39) V1221A possibly damaging Het
Kif23 A T 9: 61,853,892 (GRCm39) probably null Het
Lpxn T G 19: 12,802,274 (GRCm39) S200A probably benign Het
Meiob A G 17: 25,037,305 (GRCm39) H61R probably benign Het
Mfhas1 C T 8: 36,056,799 (GRCm39) L425F probably damaging Het
Myo3a A T 2: 22,401,126 (GRCm39) S632C probably damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nbeal1 T A 1: 60,307,100 (GRCm39) Y374* probably null Het
Notch3 T C 17: 32,372,826 (GRCm39) S582G probably benign Het
Nphs1 A T 7: 30,173,798 (GRCm39) Q985L probably damaging Het
Oas1c T A 5: 120,941,049 (GRCm39) H248L probably benign Het
Or5c1 A T 2: 37,221,896 (GRCm39) N46Y probably damaging Het
Or5g26 T C 2: 85,494,341 (GRCm39) I146V probably benign Het
Or5h25 A T 16: 58,930,157 (GRCm39) M272K probably benign Het
Or8g35 A G 9: 39,381,333 (GRCm39) S230P possibly damaging Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Panx1 G T 9: 14,918,980 (GRCm39) T293K possibly damaging Het
Papss1 G T 3: 131,305,632 (GRCm39) V226F probably benign Het
Pax1 G T 2: 147,209,809 (GRCm39) G301V possibly damaging Het
Pdlim5 C A 3: 141,950,742 (GRCm39) R557L possibly damaging Het
Pdyn C A 2: 129,531,729 (GRCm39) M20I probably benign Het
Pelp1 G A 11: 70,284,541 (GRCm39) probably null Het
Pkd2 T C 5: 104,626,790 (GRCm39) V324A probably damaging Het
Pkdrej A G 15: 85,703,368 (GRCm39) I856T probably benign Het
Polr1a T C 6: 71,913,536 (GRCm39) probably null Het
Pot1a A T 6: 25,753,323 (GRCm39) D404E probably benign Het
Ppp2r2a A T 14: 67,253,878 (GRCm39) I430N possibly damaging Het
Prob1 C T 18: 35,787,279 (GRCm39) R325Q possibly damaging Het
Prrc2a T C 17: 35,376,884 (GRCm39) D742G probably damaging Het
Psmc1 C T 12: 100,081,102 (GRCm39) P54S probably benign Het
Rab22a A G 2: 173,530,004 (GRCm39) T61A probably damaging Het
Rims1 T A 1: 22,358,754 (GRCm39) K184N probably damaging Het
Rnf213 G A 11: 119,322,511 (GRCm39) R1376H probably damaging Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Serpina1b T C 12: 103,698,420 (GRCm39) K143R probably benign Het
Slc22a15 T G 3: 101,787,505 (GRCm39) probably null Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a48 A C 13: 56,596,811 (GRCm39) T31P probably damaging Het
Slc9a3 C T 13: 74,314,175 (GRCm39) probably null Het
Slx4 T C 16: 3,805,030 (GRCm39) *105W probably null Het
Smc6 A G 12: 11,349,399 (GRCm39) N794S probably benign Het
Spata18 G A 5: 73,834,307 (GRCm39) R387Q probably damaging Het
Sphkap C A 1: 83,245,162 (GRCm39) E1486* probably null Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St8sia1 C T 6: 142,909,398 (GRCm39) A33T probably damaging Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Tmem144 G T 3: 79,732,611 (GRCm39) S222R probably damaging Het
Top1 A T 2: 160,512,042 (GRCm39) K27N unknown Het
Tox2 A G 2: 163,067,476 (GRCm39) H30R probably benign Het
Tra2b T C 16: 22,065,993 (GRCm39) probably benign Het
Trio A T 15: 27,833,142 (GRCm39) V1165E probably damaging Het
Troap T A 15: 98,975,269 (GRCm39) S145R probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttc6 C T 12: 57,663,109 (GRCm39) P302S probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ugt2b35 G T 5: 87,149,141 (GRCm39) V131F probably damaging Het
Utp25 A T 1: 192,804,401 (GRCm39) D200E probably damaging Het
Vmn1r167 G A 7: 23,204,452 (GRCm39) T188I probably benign Het
Vmn1r46 G T 6: 89,953,716 (GRCm39) M188I probably benign Het
Vmn2r115 T A 17: 23,578,388 (GRCm39) N620K probably damaging Het
Vmn2r66 A G 7: 84,644,344 (GRCm39) S689P probably damaging Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zbtb16 T C 9: 48,571,078 (GRCm39) S563G probably benign Het
Zfp319 T C 8: 96,055,199 (GRCm39) T335A probably damaging Het
Zfp418 A G 7: 7,185,401 (GRCm39) R455G 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
R0143:Tnrc6c UTSW 11 117,643,811 (GRCm39) missense probably damaging 1.00
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
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'- TGGTCCTGGTTTCTTCCAAAAG -3'
(R):5'- CTCACATAGGCTTGGCTTGG -3'

Sequencing Primer
(F):5'- CCTGGTTTCTTCCAAAAGGATGAAC -3'
(R):5'- GCGTCCTCTGATGCCACAC -3'
Posted On 2014-07-14