Incidental Mutation 'R1758:Tnrc6c'
ID 195108
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 039790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1758 (G1)
Quality Score 176
Status Not validated
Chromosome 11
Chromosomal Location 117545115-117654265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117651556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1693 (V1693D)
Ref Sequence ENSEMBL: ENSMUSP00000115221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344] [ENSMUST00000138299]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026658
AA Change: V1861D

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V1861D

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 benign
Transcript: ENSMUST00000106344
AA Change: V1861D

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V1861D

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 benign
Transcript: ENSMUST00000138299
AA Change: V1693D

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: V1693D

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,612,237 (GRCm39) R38G possibly damaging Het
4930590J08Rik T C 6: 91,892,203 (GRCm39) V155A possibly damaging Het
Adgb A G 10: 10,302,349 (GRCm39) S406P probably damaging Het
Adgrb2 C A 4: 129,905,668 (GRCm39) T893N probably damaging Het
Adgrf5 T C 17: 43,735,484 (GRCm39) probably null Het
Alms1 T A 6: 85,605,487 (GRCm39) I2379N probably damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf4 C T 15: 80,141,414 (GRCm39) T268I probably benign Het
Cblif G A 19: 11,735,179 (GRCm39) M266I probably damaging Het
Ccdc154 T C 17: 25,382,156 (GRCm39) L25P probably damaging Het
Ccdc9 G A 7: 16,010,161 (GRCm39) S381F probably damaging Het
Cdk17 C T 10: 93,044,112 (GRCm39) T17M probably damaging Het
Cep128 T C 12: 91,314,352 (GRCm39) N142S probably benign Het
Cep78 A G 19: 15,936,900 (GRCm39) I602T probably damaging Het
Clasp1 C T 1: 118,475,755 (GRCm39) T935I probably damaging Het
Cnr1 T C 4: 33,945,000 (GRCm39) S463P probably damaging Het
Cntnap1 T A 11: 101,075,449 (GRCm39) W876R probably damaging Het
Cntnap5c A G 17: 58,349,545 (GRCm39) D286G probably damaging Het
Copa C T 1: 171,931,711 (GRCm39) R321C probably damaging Het
Cspg4b A G 13: 113,505,266 (GRCm39) T2132A possibly damaging Het
Ctla2a T G 13: 61,083,256 (GRCm39) E98A probably damaging Het
Cux1 A T 5: 136,421,176 (GRCm39) D183E probably damaging Het
Cxcl15 A C 5: 90,949,323 (GRCm39) T163P unknown Het
Ddias T C 7: 92,508,571 (GRCm39) N448S probably benign Het
Dhx8 T C 11: 101,657,564 (GRCm39) F1152S probably damaging Het
Dnah12 C A 14: 26,488,071 (GRCm39) Q992K probably benign Het
Eno3 G T 11: 70,552,251 (GRCm39) W301L possibly damaging Het
Faap100 A T 11: 120,268,059 (GRCm39) V238E probably damaging Het
Fgf4 A G 7: 144,416,049 (GRCm39) S137G probably benign Het
Fhod3 A C 18: 25,253,367 (GRCm39) D1439A possibly damaging Het
Frem2 A G 3: 53,560,778 (GRCm39) L1243P probably damaging Het
Gkn3 T G 6: 87,365,817 (GRCm39) M1L probably benign Het
Gm10250 T C 15: 5,150,509 (GRCm39) probably benign Het
Gm12185 T C 11: 48,798,859 (GRCm39) T545A possibly damaging Het
Gm14226 T A 2: 154,867,378 (GRCm39) L445H probably damaging Het
Gm3404 A T 5: 146,463,036 (GRCm39) M73L probably benign Het
Gm973 G T 1: 59,673,169 (GRCm39) R976S unknown Het
Gpr146 A T 5: 139,379,137 (GRCm39) H313L probably benign Het
Gys2 T A 6: 142,418,432 (GRCm39) E32D probably damaging Het
Igsf10 G A 3: 59,236,617 (GRCm39) T1188I probably benign Het
Igsf9b A T 9: 27,245,548 (GRCm39) T1172S possibly damaging Het
Itga8 T A 2: 12,270,144 (GRCm39) N114I possibly damaging Het
Itsn2 T A 12: 4,708,160 (GRCm39) V795E possibly damaging Het
Kdm1b T A 13: 47,214,244 (GRCm39) S197T probably benign Het
Kif5c G A 2: 49,613,145 (GRCm39) R161Q probably benign Het
Krt33b T C 11: 99,916,361 (GRCm39) Y232C probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1 A T 10: 127,424,453 (GRCm39) N744K possibly damaging Het
Mcm10 C A 2: 5,008,861 (GRCm39) L369F probably damaging Het
Muc5ac T A 7: 141,355,268 (GRCm39) I1018N possibly damaging Het
Myom2 T C 8: 15,115,795 (GRCm39) L70P probably benign Het
Myt1l T A 12: 29,877,241 (GRCm39) N297K unknown Het
Ncr1 C T 7: 4,343,807 (GRCm39) T98I probably benign Het
Nek3 T C 8: 22,650,278 (GRCm39) E78G probably damaging Het
Nfatc3 T A 8: 106,825,768 (GRCm39) N606K probably damaging Het
Nup107 T G 10: 117,597,248 (GRCm39) D669A probably damaging Het
Or10ag52 A T 2: 87,043,758 (GRCm39) Q174L probably benign Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Or4c3 T C 2: 89,851,673 (GRCm39) T246A probably benign Het
Or8b55 A T 9: 38,726,871 (GRCm39) H24L probably benign Het
Pcnx1 T C 12: 82,030,258 (GRCm39) V1711A probably benign Het
Pik3c3 A G 18: 30,410,063 (GRCm39) D99G probably damaging Het
Pinx1 C A 14: 64,157,024 (GRCm39) T317K probably benign Het
Ppargc1b G T 18: 61,431,857 (GRCm39) probably null Het
Pradc1 T A 6: 85,424,203 (GRCm39) I119F possibly damaging Het
Psat1 G T 19: 15,892,243 (GRCm39) T242K probably damaging Het
Psma6 G A 12: 55,454,317 (GRCm39) C28Y probably damaging Het
Pyurf A T 6: 57,668,817 (GRCm39) C58* probably null Het
Rab3gap2 C A 1: 185,016,081 (GRCm39) A1331E probably benign Het
Rnase4 T C 14: 51,342,722 (GRCm39) *149Q probably null Het
Ruvbl2 T C 7: 45,074,586 (GRCm39) K184R probably benign Het
Scn7a T G 2: 66,510,527 (GRCm39) M1292L probably benign Het
Scn7a A T 2: 66,531,231 (GRCm39) Y549N probably damaging Het
Selp A G 1: 163,959,854 (GRCm39) D370G possibly damaging Het
Slc22a15 G A 3: 101,767,769 (GRCm39) Q386* probably null Het
Slc22a29 A G 19: 8,195,126 (GRCm39) probably null Het
Slc26a7 A C 4: 14,548,491 (GRCm39) I266S possibly damaging Het
Smpd4 T C 16: 17,443,872 (GRCm39) S112P probably damaging Het
Smpd4 T A 16: 17,458,744 (GRCm39) L165Q probably damaging Het
Snx33 A G 9: 56,833,982 (GRCm39) I29T probably benign Het
Spen G A 4: 141,203,686 (GRCm39) P1647L unknown Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Swsap1 C T 9: 21,867,280 (GRCm39) R75* probably null Het
Tesl1 A G X: 23,772,990 (GRCm39) I164V probably benign Het
Tmem210 C T 2: 25,178,435 (GRCm39) T32I probably damaging Het
Tnn C T 1: 159,975,154 (GRCm39) R91H possibly damaging Het
Tnni1 G A 1: 135,736,420 (GRCm39) R94H probably damaging Het
Trip4 G A 9: 65,782,259 (GRCm39) Q158* probably null Het
Ttc39b T C 4: 83,155,586 (GRCm39) E474G probably damaging Het
Usp50 C A 2: 126,617,782 (GRCm39) C221F probably damaging Het
Vmn1r171 T C 7: 23,331,781 (GRCm39) I2T probably benign Het
Wdr62 T A 7: 29,967,328 (GRCm39) I309F probably damaging Het
Xdh A T 17: 74,217,204 (GRCm39) V688E probably damaging Het
Zfyve26 A G 12: 79,285,718 (GRCm39) L2353P probably damaging Het
Zgpat C A 2: 181,020,633 (GRCm39) R269S probably 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
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'- TGGGAAACACCACCATCTTGGC -3'
(R):5'- CTGTCCTTAGCACATGACACTGACC -3'

Sequencing Primer
(F):5'- CTGAGTTTGCCGGGGAAG -3'
(R):5'- AGGCCAAGGTTCATCTTCAG -3'
Posted On 2014-05-23