Incidental Mutation 'R7783:Txndc16'
ID599402
Institutional Source Beutler Lab
Gene Symbol Txndc16
Ensembl Gene ENSMUSG00000021830
Gene Namethioredoxin domain containing 16
Synonyms5730420B22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R7783 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location45133465-45220328 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45144960 bp
ZygosityHeterozygous
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]
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: 124,078,812 Y447* probably null Het
Abl2 T C 1: 156,559,071 V8A probably benign Het
Adam33 C T 2: 131,058,337 R103K unknown Het
Adamts13 G T 2: 26,990,585 A727S not run Het
Alpk2 A T 18: 65,306,254 C689* probably null Het
Amt C T 9: 108,297,215 Q60* probably null Het
Ankrd12 A G 17: 66,027,250 probably null Het
Ankrd28 A T 14: 31,706,813 N920K probably damaging Het
Ankrd36 T C 11: 5,635,359 L390P probably damaging Het
Arvcf T G 16: 18,389,198 H7Q probably benign Het
Asns A G 6: 7,677,978 S367P probably damaging Het
BC005537 C T 13: 24,803,399 R7W possibly damaging Het
C7 T A 15: 5,007,710 H562L probably benign Het
Ccdc77 T C 6: 120,350,373 D37G probably damaging Het
Cdc14a C T 3: 116,404,587 A58T probably damaging Het
Cdc42bpb C T 12: 111,336,025 probably null Het
Corin A T 5: 72,301,624 F1068L probably benign Het
Epb42 T G 2: 121,034,435 K58N probably benign Het
Ercc3 T A 18: 32,248,243 S371T probably damaging Het
Fam193a A C 5: 34,431,180 K358Q probably damaging Het
Fem1a G A 17: 56,257,522 C205Y probably benign Het
Fh1 G A 1: 175,612,178 T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,252,551 probably benign Het
Gabra6 T C 11: 42,316,462 N265S probably damaging Het
Gm10801 C CGTG 2: 98,663,807 probably null Het
Gm996 A T 2: 25,577,808 L697Q probably damaging Het
Grm6 T A 11: 50,863,082 C738S probably damaging Het
Gtsf1 C T 15: 103,428,569 probably benign Het
Hcrtr2 T A 9: 76,232,914 Y364F probably damaging Het
Ick G T 9: 78,135,645 V51F probably damaging Het
Ifit1bl1 T C 19: 34,593,936 I374V probably benign Het
Il31ra A T 13: 112,541,251 F250L probably benign Het
Iqgap1 A G 7: 80,809,059 V37A probably benign Het
Izumo3 A T 4: 92,145,023 I182K probably damaging Het
Kidins220 G A 12: 24,988,556 A36T probably damaging Het
Lrrtm1 G T 6: 77,244,253 R231L probably damaging Het
Micalcl A T 7: 112,412,976 S678C probably damaging Het
Mme T G 3: 63,364,867 F629C probably damaging Het
Muc5b T A 7: 141,857,341 H1341Q unknown Het
Olfr1339 T A 4: 118,734,902 D124E probably damaging Het
Olfr1391 A G 11: 49,328,202 S264G probably benign Het
Olfr495 A G 7: 108,396,089 H323R probably benign Het
Olfr513 A T 7: 108,755,569 T238S probably damaging Het
Olfr61 A G 7: 140,637,724 T8A possibly damaging Het
Parm1 A T 5: 91,593,865 M31L probably benign Het
Pcdhb18 G A 18: 37,489,821 C68Y probably benign Het
Pkn3 A T 2: 30,079,622 E35V probably damaging Het
Pla2g4a A T 1: 149,872,744 Y238N probably damaging Het
Pld6 T C 11: 59,787,271 D122G probably damaging Het
Prag1 G T 8: 36,103,255 A331S possibly damaging Het
Rbm44 A G 1: 91,168,829 D970G probably benign Het
Rps6kc1 A G 1: 190,773,654 V1037A probably benign Het
Slc12a7 T C 13: 73,805,469 V766A probably benign Het
Spata18 A G 5: 73,668,610 T87A Het
St3gal3 T C 4: 117,940,123 M308V probably benign Het
Stx19 T C 16: 62,822,286 L155S probably benign Het
Tespa1 A T 10: 130,356,883 T145S probably damaging Het
Timm21 A C 18: 84,947,721 F221V possibly damaging Het
Tlr1 A T 5: 64,924,921 F771Y probably damaging Het
Tmem150a C A 6: 72,358,623 L125I unknown Het
Try4 T C 6: 41,302,295 L4P possibly damaging Het
Txlna C T 4: 129,632,157 R299H probably damaging Het
Upf1 T C 8: 70,352,858 T46A probably benign Het
Zfp266 T C 9: 20,500,330 N184D probably benign Het
Zfp407 A G 18: 84,209,922 V1854A possibly damaging Het
Zfp626 T A 7: 27,818,370 C259S possibly damaging Het
Other mutations in Txndc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Txndc16 APN 14 45162350 missense probably damaging 0.99
IGL00427:Txndc16 APN 14 45145090 splice site probably benign
IGL02554:Txndc16 APN 14 45172538 missense probably damaging 1.00
IGL02666:Txndc16 APN 14 45211150 splice site probably benign
IGL02707:Txndc16 APN 14 45162273 missense probably benign
IGL03198:Txndc16 APN 14 45151484 splice site probably benign
IGL03256:Txndc16 APN 14 45151896 missense probably damaging 1.00
R0647:Txndc16 UTSW 14 45169275 missense probably damaging 1.00
R0647:Txndc16 UTSW 14 45165361 nonsense probably null
R0838:Txndc16 UTSW 14 45165419 splice site probably benign
R1035:Txndc16 UTSW 14 45172563 missense possibly damaging 0.92
R1116:Txndc16 UTSW 14 45162985 missense probably benign 0.06
R1511:Txndc16 UTSW 14 45151887 missense probably damaging 0.97
R2114:Txndc16 UTSW 14 45145027 missense probably benign 0.00
R2139:Txndc16 UTSW 14 45172589 missense probably damaging 1.00
R3784:Txndc16 UTSW 14 45165886 missense probably damaging 1.00
R3801:Txndc16 UTSW 14 45151352 missense possibly damaging 0.85
R5215:Txndc16 UTSW 14 45211140 intron probably benign
R5620:Txndc16 UTSW 14 45135878 missense possibly damaging 0.86
R5726:Txndc16 UTSW 14 45165764 missense probably benign 0.38
R6297:Txndc16 UTSW 14 45151786 missense probably benign 0.10
R6603:Txndc16 UTSW 14 45151767 missense probably damaging 0.99
R6626:Txndc16 UTSW 14 45161335 splice site probably null
R6876:Txndc16 UTSW 14 45163040 missense possibly damaging 0.55
R7102:Txndc16 UTSW 14 45205382 missense probably benign 0.00
R7166:Txndc16 UTSW 14 45183154 missense probably benign 0.22
R7465:Txndc16 UTSW 14 45165388 missense probably damaging 0.97
R7670:Txndc16 UTSW 14 45135867 nonsense probably null
R7684:Txndc16 UTSW 14 45147868 missense possibly damaging 0.83
RF013:Txndc16 UTSW 14 45169338 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 On2019-11-26