Incidental Mutation 'R7315:Tnrc6c'
ID 567904
Institutional Source Beutler Lab
Gene Symbol Tnrc6c
Ensembl Gene ENSMUSG00000025571
Gene Name trinucleotide repeat containing 6C
Synonyms 9930033H14Rik
MMRRC Submission 045368-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7315 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 117654289-117763439 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 117723528 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 837 (N837K)
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: N997K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: N997K

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: N997K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: N997K

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: N837K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: N837K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A C 7: 120,294,118 (GRCm38) I1264L probably benign Het
Abcg8 C A 17: 84,696,714 (GRCm38) D484E probably damaging Het
Abhd13 T A 8: 9,987,970 (GRCm38) L189H probably damaging Het
Acox2 T C 14: 8,256,139 (GRCm38) D60G probably damaging Het
Acpp A G 9: 104,316,224 (GRCm38) probably null Het
Agpat4 C T 17: 12,210,298 (GRCm38) R146C probably damaging Het
Antxrl T C 14: 34,071,547 (GRCm38) S411P unknown Het
B4galt5 A G 2: 167,301,376 (GRCm38) V376A probably damaging Het
BB287469 A G 12: 87,819,703 (GRCm38) E128G unknown Het
Camk1d T C 2: 5,339,230 (GRCm38) Y198C probably damaging Het
Cd1d1 C T 3: 86,998,113 (GRCm38) R191H possibly damaging Het
Cd93 A G 2: 148,442,541 (GRCm38) V295A probably damaging Het
Cdc27 G A 11: 104,515,444 (GRCm38) T615I possibly damaging Het
Cfap74 T C 4: 155,463,019 (GRCm38) Y1221H unknown Het
Col24a1 G A 3: 145,431,870 (GRCm38) S896N possibly damaging Het
Cst7 C A 2: 150,570,583 (GRCm38) P22Q probably benign Het
Dnah6 C T 6: 73,084,760 (GRCm38) A2781T probably damaging Het
Dscaml1 G A 9: 45,745,125 (GRCm38) A1588T probably benign Het
Dsg2 A T 18: 20,579,160 (GRCm38) I118F probably damaging Het
Eme2 G A 17: 24,894,866 (GRCm38) R62W probably damaging Het
Epha3 A T 16: 63,552,609 (GRCm38) D910E probably benign Het
Ext1 T C 15: 53,073,387 (GRCm38) D654G probably damaging Het
Fam46b C T 4: 133,487,084 (GRCm38) T422I probably damaging Het
Fnip2 A G 3: 79,506,205 (GRCm38) probably null Het
Gon4l T A 3: 88,895,179 (GRCm38) H1032Q probably benign Het
Ispd A G 12: 36,390,374 (GRCm38) T94A probably benign Het
Kitl G A 10: 100,016,112 (GRCm38) R31H unknown Het
Lcp2 G A 11: 34,069,906 (GRCm38) probably null Het
Lrp2 T C 2: 69,491,822 (GRCm38) H1921R probably damaging Het
Lvrn A G 18: 46,876,984 (GRCm38) T400A probably benign Het
Mak16 G A 8: 31,164,738 (GRCm38) R143* probably null Het
Mettl23 A G 11: 116,849,102 (GRCm38) I159V probably benign Het
Mr1 T C 1: 155,129,290 (GRCm38) N335D probably benign Het
Muc2 T C 7: 141,690,402 (GRCm38) C12R probably damaging Het
Myom1 T C 17: 71,080,897 (GRCm38) probably null Het
Nav2 A G 7: 49,548,289 (GRCm38) N33S possibly damaging Het
Ninl A G 2: 150,950,050 (GRCm38) V851A probably benign Het
Nmt1 A G 11: 103,060,183 (GRCm38) N367D probably benign Het
Noc2l T G 4: 156,241,360 (GRCm38) S354R probably damaging Het
Olfr104-ps G T 17: 37,362,660 (GRCm38) C181F probably damaging Het
Olfr1302 T C 2: 111,780,659 (GRCm38) V113A probably damaging Het
Olfr151 T C 9: 37,730,576 (GRCm38) M136V probably benign Het
Olfr198 A G 16: 59,202,133 (GRCm38) F98L probably benign Het
Olfr293 T C 7: 86,664,237 (GRCm38) S192P probably damaging Het
Olfr70 T A 4: 43,696,961 (GRCm38) I71F probably damaging Het
Olfr860 G T 9: 19,845,835 (GRCm38) S261R probably damaging Het
Olfr877 A T 9: 37,855,247 (GRCm38) Y143F probably benign Het
Opn1sw A T 6: 29,379,363 (GRCm38) I214N probably damaging Het
Papss2 T C 19: 32,639,225 (GRCm38) V217A possibly damaging Het
Pes1 A G 11: 3,976,085 (GRCm38) I291M probably benign Het
Pqlc2 G A 4: 139,301,870 (GRCm38) T101M probably damaging Het
Ptprb T A 10: 116,362,379 (GRCm38) I1660N possibly damaging Het
Rapgef1 C A 2: 29,734,492 (GRCm38) T1030K probably damaging Het
Rassf8 A G 6: 145,815,751 (GRCm38) M268V probably benign Het
Rbl2 A T 8: 91,076,012 (GRCm38) T154S probably damaging Het
Rgs1 A G 1: 144,248,899 (GRCm38) probably null Het
Rpgrip1 C T 14: 52,121,001 (GRCm38) T188I not run Het
Rrp1b T A 17: 32,058,571 (GRCm38) F608L probably benign Het
Sbp C T 17: 23,945,306 (GRCm38) A154V probably benign Het
Scara3 C T 14: 65,931,440 (GRCm38) E243K probably damaging Het
Serpinb6b A T 13: 32,972,257 (GRCm38) D110V probably benign Het
Skiv2l T A 17: 34,841,169 (GRCm38) D875V probably benign Het
Slc2a4 G C 11: 69,946,433 (GRCm38) T59R probably damaging Het
Slc4a1 A G 11: 102,356,484 (GRCm38) S462P probably damaging Het
Snx33 C T 9: 56,925,867 (GRCm38) R306H probably damaging Het
Srf T C 17: 46,551,794 (GRCm38) probably null Het
Steap3 A G 1: 120,227,912 (GRCm38) V439A probably benign Het
Syt10 C T 15: 89,814,338 (GRCm38) D268N probably damaging Het
Terf2 T C 8: 107,081,217 (GRCm38) N242S probably benign Het
Tex15 A G 8: 33,581,516 (GRCm38) T2364A probably benign Het
Tgfbr2 A T 9: 116,109,738 (GRCm38) H365Q possibly damaging Het
Trim67 T A 8: 124,794,330 (GRCm38) S144T probably benign Het
Zc3hav1l T G 6: 38,295,147 (GRCm38) D229A possibly damaging Het
Zmym4 A T 4: 126,882,592 (GRCm38) V1184E 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
R4765:Tnrc6c UTSW 11 117,742,927 (GRCm38) missense probably benign 0.09
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
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'- TGATGGTACCTCAGCTTGGG -3'
(R):5'- CCTCACTGTTGGAAGCATGATG -3'

Sequencing Primer
(F):5'- ATCCAGTCATCCAGAGCA -3'
(R):5'- TGGCAGTACTGAGCACACC -3'
Posted On 2019-06-26