Incidental Mutation 'R4765:Tnrc6c'
ID 366079
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 042406-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4765 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 117654289-117763439 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117742927 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1284 (I1284V)
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 benign
Transcript: ENSMUST00000026658
AA Change: I1284V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: I1284V

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: I1284V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: I1284V

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: I1116V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: I1116V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,881,161 (GRCm38) R490C probably benign Het
Abcb11 A T 2: 69,245,867 (GRCm38) F1166I probably damaging Het
Acta2 T C 19: 34,246,152 (GRCm38) D181G probably damaging Het
Adgrv1 A G 13: 81,106,919 (GRCm38) I6195T probably damaging Het
Afg3l2 G T 18: 67,421,259 (GRCm38) L458M probably damaging Het
Ankfy1 T G 11: 72,712,291 (GRCm38) S49A probably benign Het
Azi2 A T 9: 118,061,471 (GRCm38) probably benign Het
Bend3 A T 10: 43,510,750 (GRCm38) S380C probably damaging Het
Bicc1 T C 10: 70,940,593 (GRCm38) T759A probably damaging Het
Cdh10 G T 15: 19,013,278 (GRCm38) V655L probably damaging Het
Cdkn2aip C A 8: 47,713,547 (GRCm38) W75L probably damaging Het
Cenpj G A 14: 56,549,545 (GRCm38) R192* probably null Het
Cflar T C 1: 58,732,321 (GRCm38) S203P probably damaging Het
Chd6 A T 2: 160,966,244 (GRCm38) C1683* probably null Het
Cpsf2 A G 12: 101,997,440 (GRCm38) Y476C probably damaging Het
Cyp4a12a A G 4: 115,326,191 (GRCm38) D169G possibly damaging Het
D430041D05Rik T A 2: 104,214,096 (GRCm38) R1536S probably damaging Het
Depdc5 A C 5: 32,937,635 (GRCm38) D752A probably damaging Het
Dnah9 C T 11: 65,927,726 (GRCm38) G78D probably damaging Het
Drc1 G T 5: 30,348,731 (GRCm38) Q249H probably benign Het
Drg1 T C 11: 3,250,280 (GRCm38) I364V probably benign Het
Dtymk T C 1: 93,792,909 (GRCm38) H130R probably damaging Het
Elac2 T G 11: 64,992,222 (GRCm38) F140V probably damaging Het
Enpp2 A G 15: 54,875,672 (GRCm38) V353A possibly damaging Het
Fat2 T C 11: 55,281,187 (GRCm38) D2900G probably damaging Het
Fermt2 G T 14: 45,462,236 (GRCm38) T536K probably benign Het
Foxj2 G T 6: 122,833,271 (GRCm38) Q196H probably benign Het
Gadl1 A G 9: 115,966,313 (GRCm38) K328R probably null Het
Gata6 A G 18: 11,054,394 (GRCm38) T108A probably benign Het
Gm16503 G T 4: 147,541,097 (GRCm38) G16V unknown Het
Gpr37 T G 6: 25,669,108 (GRCm38) E579A probably damaging Het
Gps2 T C 11: 69,916,361 (GRCm38) probably benign Het
Hcn4 A T 9: 58,857,977 (GRCm38) I581F unknown Het
Hfm1 T A 5: 106,842,539 (GRCm38) Y1335F probably benign Het
Igsf10 A T 3: 59,329,705 (GRCm38) S1018R probably benign Het
Katnal2 C T 18: 76,977,543 (GRCm38) probably null Het
Kctd8 T C 5: 69,340,848 (GRCm38) K152E possibly damaging Het
Lrp8 T C 4: 107,854,395 (GRCm38) C459R probably damaging Het
Ly6l A T 15: 75,449,694 (GRCm38) I48L probably benign Het
Megf10 A T 18: 57,287,794 (GRCm38) I835F possibly damaging Het
Mei1 A T 15: 82,112,485 (GRCm38) I946F possibly damaging Het
Mrtfb C A 16: 13,412,594 (GRCm38) P1048T probably damaging Het
Myo7b G C 18: 31,961,900 (GRCm38) L1881V probably benign Het
Nfkbiz T C 16: 55,819,024 (GRCm38) probably null Het
Or4b13 T A 2: 90,252,463 (GRCm38) Y175F probably damaging Het
Or5b24 T C 19: 12,935,076 (GRCm38) C113R possibly damaging Het
Pcdhgc5 T C 18: 37,822,069 (GRCm38) S799P probably benign Het
Plk4 A G 3: 40,802,022 (GRCm38) E97G probably damaging Het
Pole2 A T 12: 69,222,052 (GRCm38) H114Q possibly damaging Het
Rad9a C A 19: 4,200,489 (GRCm38) V109L probably benign Het
Scn8a A G 15: 101,040,471 (GRCm38) H1917R probably benign Het
Scyl2 C T 10: 89,659,298 (GRCm38) V304I probably damaging Het
Serpina3f G C 12: 104,219,431 (GRCm38) E298D probably benign Het
Shoc2 A G 19: 53,988,303 (GRCm38) E208G probably benign Het
Sin3a G A 9: 57,096,803 (GRCm38) V280I probably benign Het
Slc26a2 A T 18: 61,199,486 (GRCm38) I291N probably damaging Het
Slc4a7 T G 14: 14,762,414 (GRCm38) D600E probably damaging Het
Slc5a6 A T 5: 31,038,083 (GRCm38) F430L possibly damaging Het
Snx19 A C 9: 30,440,157 (GRCm38) Q840H probably damaging Het
Spast C A 17: 74,369,216 (GRCm38) D340E probably damaging Het
Sprr4 G A 3: 92,500,409 (GRCm38) P29S unknown Het
Stk11ip T G 1: 75,527,155 (GRCm38) L239R probably damaging Het
Thoc6 A G 17: 23,670,888 (GRCm38) L20P probably damaging Het
Tnfrsf8 A T 4: 145,296,877 (GRCm38) S129T probably benign Het
Ttn T C 2: 76,772,507 (GRCm38) Y16711C probably damaging Het
Ttn A G 2: 76,710,987 (GRCm38) L33885P probably damaging Het
Ubn2 T A 6: 38,479,140 (GRCm38) C501S probably damaging Het
Ubr1 A T 2: 120,963,442 (GRCm38) L87* probably null Het
Uhmk1 T C 1: 170,199,901 (GRCm38) Y320C probably damaging Het
Vldlr T C 19: 27,240,547 (GRCm38) V465A probably damaging Het
Vmn1r1 C T 1: 182,157,906 (GRCm38) A65T probably benign Het
Vmn2r25 C T 6: 123,823,223 (GRCm38) C720Y probably damaging Het
Xrra1 T C 7: 99,906,568 (GRCm38) Y381H probably benign Het
Zfhx4 T C 3: 5,400,152 (GRCm38) L1790P probably benign Het
Zscan4d T A 7: 11,162,667 (GRCm38) M259L probably benign Het
Other mutations in Tnrc6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Tnrc6c APN 11 117,714,185 (GRCm38) missense possibly damaging 0.91
IGL01013:Tnrc6c APN 11 117,722,029 (GRCm38) missense probably benign 0.44
IGL01092:Tnrc6c APN 11 117,721,985 (GRCm38) missense probably damaging 0.99
IGL01383:Tnrc6c APN 11 117,714,257 (GRCm38) missense probably benign 0.37
IGL01395:Tnrc6c APN 11 117,723,113 (GRCm38) missense probably benign 0.08
IGL01726:Tnrc6c APN 11 117,749,335 (GRCm38) splice site probably benign
IGL01869:Tnrc6c APN 11 117,755,448 (GRCm38) missense possibly damaging 0.65
IGL02108:Tnrc6c APN 11 117,721,199 (GRCm38) missense probably benign 0.29
IGL02457:Tnrc6c APN 11 117,722,977 (GRCm38) missense probably benign 0.28
IGL02612:Tnrc6c APN 11 117,743,000 (GRCm38) missense possibly damaging 0.95
IGL02748:Tnrc6c APN 11 117,732,170 (GRCm38) missense probably benign 0.00
IGL03160:Tnrc6c APN 11 117,749,825 (GRCm38) splice site probably benign
rodion UTSW 11 117,738,350 (GRCm38) critical splice donor site probably null
F5770:Tnrc6c UTSW 11 117,723,326 (GRCm38) missense probably damaging 1.00
K3955:Tnrc6c UTSW 11 117,760,738 (GRCm38) missense probably damaging 0.99
R0015:Tnrc6c UTSW 11 117,721,458 (GRCm38) missense probably damaging 0.98
R0143:Tnrc6c UTSW 11 117,752,985 (GRCm38) missense probably damaging 1.00
R0277:Tnrc6c UTSW 11 117,739,881 (GRCm38) missense probably damaging 1.00
R0323:Tnrc6c UTSW 11 117,739,881 (GRCm38) missense probably damaging 1.00
R0464:Tnrc6c UTSW 11 117,760,549 (GRCm38) missense probably damaging 1.00
R0699:Tnrc6c UTSW 11 117,722,621 (GRCm38) missense probably benign 0.02
R1015:Tnrc6c UTSW 11 117,721,922 (GRCm38) missense possibly damaging 0.89
R1201:Tnrc6c UTSW 11 117,721,674 (GRCm38) missense probably damaging 0.96
R1297:Tnrc6c UTSW 11 117,733,703 (GRCm38) missense possibly damaging 0.52
R1560:Tnrc6c UTSW 11 117,759,637 (GRCm38) missense probably damaging 1.00
R1596:Tnrc6c UTSW 11 117,758,041 (GRCm38) missense probably damaging 1.00
R1758:Tnrc6c UTSW 11 117,760,730 (GRCm38) missense probably benign 0.09
R1892:Tnrc6c UTSW 11 117,714,362 (GRCm38) missense probably benign
R1901:Tnrc6c UTSW 11 117,723,005 (GRCm38) missense probably damaging 0.98
R1935:Tnrc6c UTSW 11 117,756,023 (GRCm38) missense possibly damaging 0.91
R1936:Tnrc6c UTSW 11 117,756,023 (GRCm38) missense possibly damaging 0.91
R1937:Tnrc6c UTSW 11 117,756,023 (GRCm38) missense possibly damaging 0.91
R1940:Tnrc6c UTSW 11 117,756,023 (GRCm38) missense possibly damaging 0.91
R3622:Tnrc6c UTSW 11 117,749,625 (GRCm38) missense probably damaging 1.00
R3711:Tnrc6c UTSW 11 117,723,124 (GRCm38) missense probably benign 0.00
R3725:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3775:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3776:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3836:Tnrc6c UTSW 11 117,723,229 (GRCm38) missense probably benign 0.20
R3844:Tnrc6c UTSW 11 117,755,483 (GRCm38) missense probably damaging 1.00
R3852:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3928:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3929:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3937:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R3943:Tnrc6c UTSW 11 117,723,529 (GRCm38) missense probably damaging 0.96
R4501:Tnrc6c UTSW 11 117,722,498 (GRCm38) missense probably damaging 1.00
R4510:Tnrc6c UTSW 11 117,742,958 (GRCm38) missense possibly damaging 0.68
R4511:Tnrc6c UTSW 11 117,742,958 (GRCm38) missense possibly damaging 0.68
R4654:Tnrc6c UTSW 11 117,720,971 (GRCm38) missense probably benign
R4824:Tnrc6c UTSW 11 117,722,905 (GRCm38) missense probably damaging 0.98
R5004:Tnrc6c UTSW 11 117,721,046 (GRCm38) missense probably benign 0.44
R5094:Tnrc6c UTSW 11 117,721,046 (GRCm38) missense probably benign 0.00
R5130:Tnrc6c UTSW 11 117,738,350 (GRCm38) critical splice donor site probably null
R5234:Tnrc6c UTSW 11 117,760,729 (GRCm38) missense probably benign 0.42
R5235:Tnrc6c UTSW 11 117,760,729 (GRCm38) missense probably benign 0.42
R5345:Tnrc6c UTSW 11 117,723,287 (GRCm38) missense possibly damaging 0.80
R5359:Tnrc6c UTSW 11 117,758,905 (GRCm38) splice site silent
R5428:Tnrc6c UTSW 11 117,700,762 (GRCm38) start codon destroyed probably null
R5548:Tnrc6c UTSW 11 117,760,843 (GRCm38) missense possibly damaging 0.96
R5587:Tnrc6c UTSW 11 117,749,271 (GRCm38) nonsense probably null
R5875:Tnrc6c UTSW 11 117,759,708 (GRCm38) missense probably damaging 0.99
R5947:Tnrc6c UTSW 11 117,722,519 (GRCm38) missense probably damaging 1.00
R6135:Tnrc6c UTSW 11 117,736,005 (GRCm38) missense probably damaging 0.97
R6354:Tnrc6c UTSW 11 117,749,614 (GRCm38) missense possibly damaging 0.90
R6389:Tnrc6c UTSW 11 117,722,741 (GRCm38) missense probably damaging 0.99
R7027:Tnrc6c UTSW 11 117,733,618 (GRCm38) missense probably damaging 1.00
R7048:Tnrc6c UTSW 11 117,721,974 (GRCm38) missense probably benign 0.41
R7098:Tnrc6c UTSW 11 117,714,126 (GRCm38) missense probably benign 0.03
R7315:Tnrc6c UTSW 11 117,723,528 (GRCm38) missense probably benign 0.11
R7378:Tnrc6c UTSW 11 117,741,780 (GRCm38) missense probably benign 0.03
R7386:Tnrc6c UTSW 11 117,721,954 (GRCm38) missense probably benign
R7515:Tnrc6c UTSW 11 117,741,681 (GRCm38) missense probably benign 0.03
R7665:Tnrc6c UTSW 11 117,720,951 (GRCm38) missense possibly damaging 0.46
R7755:Tnrc6c UTSW 11 117,758,086 (GRCm38) missense probably benign 0.00
R8679:Tnrc6c UTSW 11 117,714,135 (GRCm38) missense probably benign
R8824:Tnrc6c UTSW 11 117,739,854 (GRCm38) splice site probably benign
R8971:Tnrc6c UTSW 11 117,749,263 (GRCm38) missense possibly damaging 0.95
R9261:Tnrc6c UTSW 11 117,714,279 (GRCm38) missense probably damaging 0.99
R9283:Tnrc6c UTSW 11 117,700,804 (GRCm38) missense unknown
R9342:Tnrc6c UTSW 11 117,739,894 (GRCm38) missense probably benign 0.01
R9633:Tnrc6c UTSW 11 117,747,183 (GRCm38) missense probably damaging 1.00
R9761:Tnrc6c UTSW 11 117,732,310 (GRCm38) missense probably benign
V7580:Tnrc6c UTSW 11 117,723,326 (GRCm38) missense probably damaging 1.00
V7581:Tnrc6c UTSW 11 117,723,326 (GRCm38) missense probably damaging 1.00
V7582:Tnrc6c UTSW 11 117,723,326 (GRCm38) missense probably damaging 1.00
V7583:Tnrc6c UTSW 11 117,723,326 (GRCm38) missense probably damaging 1.00
Z1176:Tnrc6c UTSW 11 117,732,177 (GRCm38) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TTAACTGTGACAGCCGTGTTTAG -3'
(R):5'- ACCAAGTACAGTGTGCAAAGC -3'

Sequencing Primer
(F):5'- TGACAGCCGTGTTTAGGGACAC -3'
(R):5'- GCAAAGCTTATTGTTCGGACC -3'
Posted On 2015-12-21