Incidental Mutation 'R9261:Tnrc6c'
ID 702272
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 068990-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9261 (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 A at 117605105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 80 (V80E)
Ref Sequence ENSEMBL: ENSMUSP00000026658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026658
AA Change: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V80E

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: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V80E

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: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,075,397 (GRCm39) E1043G probably benign Het
Agps T G 2: 75,684,850 (GRCm39) probably benign Het
Ahnak A G 19: 8,993,503 (GRCm39) E4929G possibly damaging Het
Arl6ip4 T A 5: 124,256,146 (GRCm39) probably benign Het
Cdhr17 T C 5: 17,006,547 (GRCm39) L88P possibly damaging Het
Clca3a2 G T 3: 144,525,158 (GRCm39) H25N probably benign Het
Cubn C T 2: 13,283,262 (GRCm39) D3559N probably damaging Het
Dmac2 T A 7: 25,320,345 (GRCm39) W15R probably benign Het
Dzank1 T C 2: 144,355,344 (GRCm39) E117G probably benign Het
Eml2 A G 7: 18,913,743 (GRCm39) T187A probably benign Het
Eml5 A G 12: 98,822,287 (GRCm39) V747A probably damaging Het
Esr1 T A 10: 4,919,271 (GRCm39) S454T probably damaging Het
Evc2 A G 5: 37,537,895 (GRCm39) T528A probably benign Het
Fbxo5 T C 10: 5,752,325 (GRCm39) N96S probably damaging Het
Fcnb T C 2: 27,969,636 (GRCm39) T144A probably damaging Het
Fgf20 T A 8: 40,739,951 (GRCm39) probably benign Het
Gcg T C 2: 62,306,408 (GRCm39) probably benign Het
Gfm2 T A 13: 97,299,369 (GRCm39) Y363* probably null Het
Grwd1 C T 7: 45,475,381 (GRCm39) R387Q probably benign Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Herc1 A G 9: 66,412,129 (GRCm39) N4783S probably damaging Het
Hydin C A 8: 110,994,047 (GRCm39) A27E unknown Het
Iigp1c T A 18: 60,353,820 (GRCm39) probably benign Het
Ikbip A G 10: 90,932,249 (GRCm39) T298A possibly damaging Het
Il1rap A G 16: 26,541,724 (GRCm39) N655S possibly damaging Het
Kif21b C T 1: 136,077,162 (GRCm39) R395C probably damaging Het
Kif3a ATTGACG A 11: 53,484,248 (GRCm39) probably benign Het
Klhl40 A G 9: 121,609,002 (GRCm39) D389G probably benign Het
Ly6g A G 15: 75,030,529 (GRCm39) T116A probably damaging Het
Mast2 A G 4: 116,165,900 (GRCm39) L1276P probably damaging Het
Mitf A G 6: 97,990,704 (GRCm39) Q369R possibly damaging Het
Mtus2 T A 5: 148,243,453 (GRCm39) Y192* probably null Het
Nav1 T A 1: 135,388,095 (GRCm39) E1109D unknown Het
Nav2 A G 7: 49,246,904 (GRCm39) E2143G probably damaging Het
Nedd4 A G 9: 72,584,656 (GRCm39) Q119R possibly damaging Het
Nek9 A G 12: 85,359,841 (GRCm39) V537A probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Nudcd2 A G 11: 40,630,026 (GRCm39) N144S probably damaging Het
Nup205 A G 6: 35,176,792 (GRCm39) E596G probably benign Het
Olfml1 T A 7: 107,167,007 (GRCm39) L12Q possibly damaging Het
Or4f60 T A 2: 111,902,718 (GRCm39) D70V probably damaging Het
Or51k1 C T 7: 103,661,336 (GRCm39) C191Y probably damaging Het
Or52n2c A T 7: 104,574,305 (GRCm39) M222K probably benign Het
Or56b2 T A 7: 104,337,260 (GRCm39) F13I probably benign Het
Or6b13 A G 7: 139,782,563 (GRCm39) V40A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Padi4 T C 4: 140,479,926 (GRCm39) N409S probably damaging Het
Pam T A 1: 97,903,620 (GRCm39) T38S probably benign Het
Piezo2 T C 18: 63,208,868 (GRCm39) I1382V possibly damaging Het
Pla2g12a A T 3: 129,684,080 (GRCm39) Q153L possibly damaging Het
Pla2g4e T A 2: 120,019,910 (GRCm39) H180L probably benign Het
Pou2af2 T A 9: 51,202,998 (GRCm39) H52L probably benign Het
Pprc1 A G 19: 46,050,868 (GRCm39) T169A unknown Het
Prrc2c A G 1: 162,505,622 (GRCm39) I2592T possibly damaging Het
Ptchd3 T A 11: 121,722,956 (GRCm39) I348N probably damaging Het
Ralgps1 T C 2: 33,226,571 (GRCm39) D40G probably damaging Het
Rbm19 T C 5: 120,256,810 (GRCm39) F41S probably damaging Het
Rbsn T C 6: 92,166,797 (GRCm39) M616V probably benign Het
Ryr1 A T 7: 28,751,813 (GRCm39) M3660K possibly damaging Het
Sidt2 A T 9: 45,861,396 (GRCm39) V246E probably damaging Het
Slc4a4 T C 5: 89,347,568 (GRCm39) W770R probably damaging Het
Spata31d1c T A 13: 65,184,680 (GRCm39) S741T probably damaging Het
Stk19 T G 17: 35,051,432 (GRCm39) Y108S possibly damaging Het
Stox2 T C 8: 47,645,441 (GRCm39) E673G possibly damaging Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tmem161a C A 8: 70,631,572 (GRCm39) R167S probably damaging Het
Trpa1 G A 1: 14,963,465 (GRCm39) H586Y probably damaging Het
Tsr1 A G 11: 74,799,056 (GRCm39) T746A probably damaging Het
Uqcrfs1 T C 13: 30,724,794 (GRCm39) I249V probably damaging Het
Vmn2r84 C A 10: 130,229,976 (GRCm39) E45D probably benign Het
Vnn3 A G 10: 23,741,607 (GRCm39) E304G probably damaging Het
Zfp541 G A 7: 15,816,029 (GRCm39) V839M possibly damaging Het
Zfp62 A G 11: 49,108,350 (GRCm39) K814E probably benign 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
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
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'- TAAACAAGCAGTGCCTCCTCG -3'
(R):5'- CTTACCTTGTTGGAGCTTGC -3'

Sequencing Primer
(F):5'- AGTGCCTCCTCGGGTTG -3'
(R):5'- CTGGGATGTTGCTGTGCCC -3'
Posted On 2022-03-25