Incidental Mutation 'R7783:Txndc16'
ID 599402
Institutional Source Beutler Lab
Gene Symbol Txndc16
Ensembl Gene ENSMUSG00000021830
Gene Name thioredoxin domain containing 16
Synonyms 5730420B22Rik
MMRRC Submission 045839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 45371905-45457008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45382417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 609 (N609K)
Ref Sequence ENSEMBL: ENSMUSP00000123023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022377] [ENSMUST00000123879] [ENSMUST00000139526]
AlphaFold Q7TN22
Predicted Effect probably benign
Transcript: ENSMUST00000022377
AA Change: N609K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: N609K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 298 308 N/A INTRINSIC
low complexity region 354 367 N/A INTRINSIC
Pfam:Thioredoxin 394 496 1.9e-12 PFAM
Pfam:Thioredoxin_6 534 723 2.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123879
AA Change: N609K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: N609K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 298 308 N/A INTRINSIC
low complexity region 354 367 N/A INTRINSIC
Pfam:Thioredoxin 394 496 1.9e-12 PFAM
Pfam:Thioredoxin_6 534 723 2.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139526
AA Change: N609K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: N609K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 298 308 N/A INTRINSIC
low complexity region 354 367 N/A INTRINSIC
Pfam:Thioredoxin 394 496 1e-12 PFAM
Pfam:Thioredoxin_6 534 723 7.3e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,875 (GRCm39) Y447* probably null Het
Abl2 T C 1: 156,386,641 (GRCm39) V8A probably benign Het
Adam33 C T 2: 130,900,257 (GRCm39) R103K unknown Het
Adamts13 G T 2: 26,880,597 (GRCm39) A727S not run Het
Ajm1 A T 2: 25,467,820 (GRCm39) L697Q probably damaging Het
Alpk2 A T 18: 65,439,325 (GRCm39) C689* probably null Het
Amt C T 9: 108,174,414 (GRCm39) Q60* probably null Het
Ankrd12 A G 17: 66,334,245 (GRCm39) probably null Het
Ankrd28 A T 14: 31,428,770 (GRCm39) N920K probably damaging Het
Ankrd36 T C 11: 5,585,359 (GRCm39) L390P probably damaging Het
Arvcf T G 16: 18,207,063 (GRCm39) H7Q probably benign Het
Asns A G 6: 7,677,978 (GRCm39) S367P probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
C7 T A 15: 5,037,192 (GRCm39) H562L probably benign Het
Ccdc77 T C 6: 120,327,334 (GRCm39) D37G probably damaging Het
Cdc14a C T 3: 116,198,236 (GRCm39) A58T probably damaging Het
Cdc42bpb C T 12: 111,302,459 (GRCm39) probably null Het
Cilk1 G T 9: 78,042,927 (GRCm39) V51F probably damaging Het
Corin A T 5: 72,458,967 (GRCm39) F1068L probably benign Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Ercc3 T A 18: 32,381,296 (GRCm39) S371T probably damaging Het
Fam193a A C 5: 34,588,524 (GRCm39) K358Q probably damaging Het
Fem1a G A 17: 56,564,522 (GRCm39) C205Y probably benign Het
Fh1 G A 1: 175,439,744 (GRCm39) T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gabra6 T C 11: 42,207,289 (GRCm39) N265S probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Grm6 T A 11: 50,753,909 (GRCm39) C738S probably damaging Het
Gtsf1 C T 15: 103,336,996 (GRCm39) probably benign Het
Hcrtr2 T A 9: 76,140,196 (GRCm39) Y364F probably damaging Het
Ifit1bl1 T C 19: 34,571,336 (GRCm39) I374V probably benign Het
Il31ra A T 13: 112,677,785 (GRCm39) F250L probably benign Het
Iqgap1 A G 7: 80,458,807 (GRCm39) V37A probably benign Het
Izumo3 A T 4: 92,033,260 (GRCm39) I182K probably damaging Het
Kidins220 G A 12: 25,038,555 (GRCm39) A36T probably damaging Het
Lrrtm1 G T 6: 77,221,236 (GRCm39) R231L probably damaging Het
Mical2 A T 7: 112,012,183 (GRCm39) S678C probably damaging Het
Mme T G 3: 63,272,288 (GRCm39) F629C probably damaging Het
Muc5b T A 7: 141,411,078 (GRCm39) H1341Q unknown Het
Or13a28 A G 7: 140,217,637 (GRCm39) T8A possibly damaging Het
Or13p5 T A 4: 118,592,099 (GRCm39) D124E probably damaging Het
Or2y1e A G 11: 49,219,029 (GRCm39) S264G probably benign Het
Or5e1 A T 7: 108,354,776 (GRCm39) T238S probably damaging Het
Or5p70 A G 7: 107,995,296 (GRCm39) H323R probably benign Het
Parm1 A T 5: 91,741,724 (GRCm39) M31L probably benign Het
Pcdhb18 G A 18: 37,622,874 (GRCm39) C68Y probably benign Het
Pkn3 A T 2: 29,969,634 (GRCm39) E35V probably damaging Het
Pla2g4a A T 1: 149,748,495 (GRCm39) Y238N probably damaging Het
Pld6 T C 11: 59,678,097 (GRCm39) D122G probably damaging Het
Prag1 G T 8: 36,570,409 (GRCm39) A331S possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Rps6kc1 A G 1: 190,505,851 (GRCm39) V1037A probably benign Het
Slc12a7 T C 13: 73,953,588 (GRCm39) V766A probably benign Het
Spata18 A G 5: 73,825,953 (GRCm39) T87A Het
St3gal3 T C 4: 117,797,320 (GRCm39) M308V probably benign Het
Stx19 T C 16: 62,642,649 (GRCm39) L155S probably benign Het
Tespa1 A T 10: 130,192,752 (GRCm39) T145S probably damaging Het
Timm21 A C 18: 84,965,846 (GRCm39) F221V possibly damaging Het
Tlr1 A T 5: 65,082,264 (GRCm39) F771Y probably damaging Het
Tmem150a C A 6: 72,335,606 (GRCm39) L125I unknown Het
Try4 T C 6: 41,279,229 (GRCm39) L4P possibly damaging Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Upf1 T C 8: 70,805,508 (GRCm39) T46A probably benign Het
Zfp266 T C 9: 20,411,626 (GRCm39) N184D probably benign Het
Zfp407 A G 18: 84,228,047 (GRCm39) V1854A possibly damaging Het
Zfp626 T A 7: 27,517,795 (GRCm39) C259S possibly damaging Het
Other mutations in Txndc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Txndc16 APN 14 45,399,807 (GRCm39) missense probably damaging 0.99
IGL00427:Txndc16 APN 14 45,382,547 (GRCm39) splice site probably benign
IGL02554:Txndc16 APN 14 45,409,995 (GRCm39) missense probably damaging 1.00
IGL02666:Txndc16 APN 14 45,448,607 (GRCm39) splice site probably benign
IGL02707:Txndc16 APN 14 45,399,730 (GRCm39) missense probably benign
IGL03198:Txndc16 APN 14 45,388,941 (GRCm39) splice site probably benign
IGL03256:Txndc16 APN 14 45,389,353 (GRCm39) missense probably damaging 1.00
R0647:Txndc16 UTSW 14 45,402,818 (GRCm39) nonsense probably null
R0647:Txndc16 UTSW 14 45,406,732 (GRCm39) missense probably damaging 1.00
R0838:Txndc16 UTSW 14 45,402,876 (GRCm39) splice site probably benign
R1035:Txndc16 UTSW 14 45,410,020 (GRCm39) missense possibly damaging 0.92
R1116:Txndc16 UTSW 14 45,400,442 (GRCm39) missense probably benign 0.06
R1511:Txndc16 UTSW 14 45,389,344 (GRCm39) missense probably damaging 0.97
R2114:Txndc16 UTSW 14 45,382,484 (GRCm39) missense probably benign 0.00
R2139:Txndc16 UTSW 14 45,410,046 (GRCm39) missense probably damaging 1.00
R3784:Txndc16 UTSW 14 45,403,343 (GRCm39) missense probably damaging 1.00
R3801:Txndc16 UTSW 14 45,388,809 (GRCm39) missense possibly damaging 0.85
R5215:Txndc16 UTSW 14 45,448,597 (GRCm39) intron probably benign
R5620:Txndc16 UTSW 14 45,373,335 (GRCm39) missense possibly damaging 0.86
R5726:Txndc16 UTSW 14 45,403,221 (GRCm39) missense probably benign 0.38
R6297:Txndc16 UTSW 14 45,389,243 (GRCm39) missense probably benign 0.10
R6603:Txndc16 UTSW 14 45,389,224 (GRCm39) missense probably damaging 0.99
R6626:Txndc16 UTSW 14 45,398,792 (GRCm39) splice site probably null
R6876:Txndc16 UTSW 14 45,400,497 (GRCm39) missense possibly damaging 0.55
R7102:Txndc16 UTSW 14 45,442,839 (GRCm39) missense probably benign 0.00
R7166:Txndc16 UTSW 14 45,420,611 (GRCm39) missense probably benign 0.22
R7465:Txndc16 UTSW 14 45,402,845 (GRCm39) missense probably damaging 0.97
R7670:Txndc16 UTSW 14 45,373,324 (GRCm39) nonsense probably null
R7684:Txndc16 UTSW 14 45,385,325 (GRCm39) missense possibly damaging 0.83
R8316:Txndc16 UTSW 14 45,448,641 (GRCm39) missense probably damaging 1.00
R8838:Txndc16 UTSW 14 45,378,028 (GRCm39) missense probably damaging 1.00
R8926:Txndc16 UTSW 14 45,406,771 (GRCm39) missense possibly damaging 0.93
R9169:Txndc16 UTSW 14 45,373,385 (GRCm39) missense probably damaging 1.00
R9327:Txndc16 UTSW 14 45,379,448 (GRCm39) missense probably benign 0.00
R9489:Txndc16 UTSW 14 45,442,799 (GRCm39) missense probably damaging 1.00
R9500:Txndc16 UTSW 14 45,406,798 (GRCm39) missense probably null 0.00
R9605:Txndc16 UTSW 14 45,442,799 (GRCm39) missense probably damaging 1.00
R9632:Txndc16 UTSW 14 45,400,467 (GRCm39) missense probably benign 0.00
R9710:Txndc16 UTSW 14 45,400,467 (GRCm39) missense probably benign 0.00
RF013:Txndc16 UTSW 14 45,406,795 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACCGGACACTGGACACTTTG -3'
(R):5'- GGATTCCATCTCACTAGCTAGC -3'

Sequencing Primer
(F):5'- GCCAGTGAAGTTTTACCAGC -3'
(R):5'- CCATCTCACTAGCTAGCAGTTAG -3'
Posted On 2019-11-26