Incidental Mutation 'R8679:Tnrc6c'
ID 661615
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 068534-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8679 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 117545115-117654265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117604961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 32 (L32P)
Ref Sequence ENSEMBL: ENSMUSP00000026658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026658
AA Change: L32P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: L32P

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: L32P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: L32P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,152,479 (GRCm39) T1356A possibly damaging Het
Ace3 A G 11: 105,886,701 (GRCm39) T154A probably benign Het
Arhgap31 C A 16: 38,422,966 (GRCm39) Q1033H probably damaging Het
C1qtnf1 C T 11: 118,337,340 (GRCm39) R57* probably null Het
Cacna1g T C 11: 94,319,962 (GRCm39) T1405A probably damaging Het
Cacna1i A G 15: 80,260,011 (GRCm39) probably benign Het
Cdca4 T A 12: 112,785,734 (GRCm39) probably null Het
Cpa4 T A 6: 30,585,158 (GRCm39) M314K probably damaging Het
Cpn2 A T 16: 30,078,085 (GRCm39) S539T possibly damaging Het
Crebbp A G 16: 3,902,322 (GRCm39) S2306P probably damaging Het
Cspg4b A G 13: 113,488,163 (GRCm39) R9G Het
Dcaf5 T C 12: 80,385,807 (GRCm39) H773R probably benign Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Dnah1 G T 14: 30,989,767 (GRCm39) R3250S possibly damaging Het
Dnajc25 A C 4: 59,020,195 (GRCm39) K206T possibly damaging Het
Dnajc27 T C 12: 4,146,325 (GRCm39) L118P possibly damaging Het
Etl4 C T 2: 20,714,288 (GRCm39) T129I probably damaging Het
Faap100 A G 11: 120,263,003 (GRCm39) I785T probably damaging Het
Fam227b A T 2: 125,830,928 (GRCm39) D425E probably benign Het
Fat4 C G 3: 39,064,842 (GRCm39) L4933V probably damaging Het
Fbrsl1 A G 5: 110,526,086 (GRCm39) F39L probably damaging Het
Fezf1 A G 6: 23,247,769 (GRCm39) V102A probably benign Het
Gabra2 T C 5: 71,170,040 (GRCm39) probably benign Het
Garnl3 C A 2: 32,916,106 (GRCm39) R346L probably damaging Het
Grin2a A T 16: 9,403,089 (GRCm39) I799N possibly damaging Het
Hspa4 A G 11: 53,160,691 (GRCm39) F462L probably damaging Het
Iars1 C A 13: 49,856,675 (GRCm39) probably benign Het
Igkv6-32 C T 6: 70,051,063 (GRCm39) V98M possibly damaging Het
Il31ra A G 13: 112,662,372 (GRCm39) F560S possibly damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif2a G A 13: 107,116,049 (GRCm39) T299I probably damaging Het
Leo1 T A 9: 75,373,544 (GRCm39) Y656* probably null Het
Lpcat2 T A 8: 93,635,864 (GRCm39) V422D probably damaging Het
Lrrcc1 T A 3: 14,601,084 (GRCm39) S39T probably benign Het
Macf1 A T 4: 123,405,869 (GRCm39) S341T probably benign Het
Mc2r T A 18: 68,540,879 (GRCm39) Y138F probably damaging Het
Mepe A G 5: 104,485,754 (GRCm39) N298S possibly damaging Het
Mmp15 C A 8: 96,092,982 (GRCm39) N120K possibly damaging Het
Mrps9 A G 1: 42,918,915 (GRCm39) R106G probably damaging Het
Muc16 T A 9: 18,557,744 (GRCm39) M2850L unknown Het
Mxra8 T A 4: 155,927,122 (GRCm39) I352N probably damaging Het
Myo16 G A 8: 10,411,042 (GRCm39) V167I unknown Het
Neb T C 2: 52,215,051 (GRCm39) D209G probably damaging Het
Nlgn2 A G 11: 69,716,309 (GRCm39) V744A probably benign Het
Notch2 A G 3: 98,029,218 (GRCm39) probably null Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Or14c42-ps1 A T 7: 86,211,147 (GRCm39) H69L unknown Het
Or5ak20 T C 2: 85,183,953 (GRCm39) T106A probably benign Het
Or5k16 G A 16: 58,736,843 (GRCm39) R54C probably benign Het
Or9k2b T C 10: 130,016,702 (GRCm39) I16V probably benign Het
Oxa1l A G 14: 54,605,248 (GRCm39) probably null Het
Piwil4 T C 9: 14,616,322 (GRCm39) D15G Het
Plcz1 C A 6: 139,949,612 (GRCm39) W461L probably damaging Het
Plek A T 11: 16,944,676 (GRCm39) I118N probably damaging Het
Poc1b C A 10: 99,000,728 (GRCm39) probably benign Het
Potefam1 A T 2: 111,059,567 (GRCm39) M64K possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Prss36 T C 7: 127,532,635 (GRCm39) T739A possibly damaging Het
Psme2 A T 14: 55,827,074 (GRCm39) probably null Het
Ptprb T G 10: 116,203,495 (GRCm39) V1802G probably damaging Het
Rabep2 C A 7: 126,034,848 (GRCm39) Y84* probably null Het
Rbbp6 T G 7: 122,600,516 (GRCm39) S1508A unknown Het
Rel A T 11: 23,692,430 (GRCm39) D534E probably benign Het
Rpgrip1 G A 14: 52,396,852 (GRCm39) S1258N probably damaging Het
Rprml T C 11: 103,540,953 (GRCm39) L116P probably damaging Het
Rsph10b A G 5: 143,887,112 (GRCm39) T323A possibly damaging Het
Rtn4rl1 A G 11: 75,156,099 (GRCm39) H177R probably damaging Het
Sag A G 1: 87,738,032 (GRCm39) T24A probably benign Het
Scgb2b26 G T 7: 33,643,784 (GRCm39) T52N probably damaging Het
Scn10a T C 9: 119,501,194 (GRCm39) I197V probably damaging Het
Sec24c T A 14: 20,742,927 (GRCm39) V1003D possibly damaging Het
Sirt2 G A 7: 28,471,261 (GRCm39) G30E probably damaging Het
Slc13a5 T A 11: 72,149,919 (GRCm39) Q197L probably benign Het
Slc44a3 A T 3: 121,283,918 (GRCm39) S445T probably damaging Het
Slc7a7 A T 14: 54,610,449 (GRCm39) V399E probably benign Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Sorcs2 G T 5: 36,196,657 (GRCm39) Q663K probably benign Het
Stat4 A G 1: 52,118,991 (GRCm39) R345G probably null Het
Sycp2 G A 2: 177,992,768 (GRCm39) R1261C probably damaging Het
Tcf19 T C 17: 35,825,381 (GRCm39) I259V probably benign Het
Thada T A 17: 84,536,637 (GRCm39) R1636S probably benign Het
Tonsl G A 15: 76,517,076 (GRCm39) T881I probably benign Het
Tonsl A C 15: 76,518,263 (GRCm39) C570G probably damaging Het
Ube2o C A 11: 116,432,273 (GRCm39) E898* probably null Het
Usp5 T C 6: 124,794,394 (GRCm39) H762R possibly damaging Het
Vmn2r15 A G 5: 109,434,779 (GRCm39) S642P probably benign Het
Vmn2r23 T C 6: 123,690,431 (GRCm39) W436R probably damaging Het
Vps13d A C 4: 144,811,977 (GRCm39) I3343M Het
Wbp11 T C 6: 136,799,932 (GRCm39) K83E probably damaging Het
Zfp26 T A 9: 20,356,201 (GRCm39) N36Y possibly damaging Het
Zfp57 T A 17: 37,320,938 (GRCm39) I264N 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
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
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'- TCATGCCGTAACACAGCGTG -3'
(R):5'- GGCCTCTCTTTAACAGCTGC -3'

Sequencing Primer
(F):5'- CCGTAACACAGCGTGCAGAG -3'
(R):5'- CTTCTGTTCTTGCTGGCGAAAG -3'
Posted On 2021-03-08