Incidental Mutation 'R3801:Txndc16'
ID 273005
Institutional Source Beutler Lab
Gene Symbol Txndc16
Ensembl Gene ENSMUSG00000021830
Gene Name thioredoxin domain containing 16
Synonyms 5730420B22Rik
MMRRC Submission 040760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R3801 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45371905-45457008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45388809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 536 (P536L)
Ref Sequence ENSEMBL: ENSMUSP00000120287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022377] [ENSMUST00000123879] [ENSMUST00000139526]
AlphaFold Q7TN22
Predicted Effect possibly damaging
Transcript: ENSMUST00000022377
AA Change: P536L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: P536L

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 possibly damaging
Transcript: ENSMUST00000123879
AA Change: P536L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: P536L

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 possibly damaging
Transcript: ENSMUST00000139526
AA Change: P536L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: P536L

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Ankfy1 T C 11: 72,640,246 (GRCm39) S531P probably benign Het
Atp6v1e1 A G 6: 120,778,020 (GRCm39) Y172H probably benign Het
Brd1 C T 15: 88,601,243 (GRCm39) V464M probably damaging Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Cacnb2 A G 2: 14,829,074 (GRCm39) D3G possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Cgrrf1 G T 14: 47,069,820 (GRCm39) G30C probably damaging Het
Crnkl1 T C 2: 145,761,715 (GRCm39) D614G probably benign Het
Cyp2c23 C T 19: 43,995,478 (GRCm39) V430I probably benign Het
Dazl G A 17: 50,588,309 (GRCm39) R289W probably benign Het
Dsg1b C T 18: 20,523,260 (GRCm39) P96S probably damaging Het
Dusp14 A G 11: 83,939,535 (GRCm39) S169P possibly damaging Het
Egfem1 A G 3: 29,206,075 (GRCm39) D91G probably benign Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Fap C T 2: 62,376,994 (GRCm39) V191I probably benign Het
Flnc T C 6: 29,447,403 (GRCm39) Y1069H probably damaging Het
Fndc7 T C 3: 108,776,464 (GRCm39) T526A possibly damaging Het
Fras1 A T 5: 96,881,791 (GRCm39) T2508S probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Hyal5 A T 6: 24,876,523 (GRCm39) H132L probably benign Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Lrrk2 A G 15: 91,621,314 (GRCm39) R963G probably benign Het
Lrtm2 G A 6: 119,294,444 (GRCm39) T229I probably damaging Het
Mb21d2 A T 16: 28,646,755 (GRCm39) D406E possibly damaging Het
Meikin T A 11: 54,290,697 (GRCm39) probably null Het
Mybl1 A T 1: 9,743,439 (GRCm39) F538I probably damaging Het
Nectin2 T C 7: 19,451,561 (GRCm39) D491G probably benign Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nid2 T C 14: 19,860,065 (GRCm39) C1328R probably damaging Het
Nlrp1a T A 11: 71,013,529 (GRCm39) M574L probably benign Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4k41 A T 2: 111,279,910 (GRCm39) I142F probably benign Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prdm12 A G 2: 31,541,959 (GRCm39) K223E probably damaging Het
Prkd1 C A 12: 50,430,205 (GRCm39) R634L possibly damaging Het
Rassf3 T A 10: 121,250,271 (GRCm39) I181F possibly damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Sema4f A T 6: 82,895,608 (GRCm39) H308Q possibly damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slpi A G 2: 164,198,158 (GRCm39) L12P probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Spag17 A G 3: 99,961,169 (GRCm39) K985R possibly damaging Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Tmed4 C A 11: 6,224,233 (GRCm39) V80F probably damaging Het
Tnpo2 T A 8: 85,781,800 (GRCm39) probably null Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Triobp A T 15: 78,857,900 (GRCm39) Q1167L probably benign Het
Usp13 C T 3: 32,935,657 (GRCm39) A360V possibly damaging Het
Vhl G A 6: 113,606,423 (GRCm39) V147I probably benign Het
Vldlr A T 19: 27,195,021 (GRCm39) T3S probably damaging Het
Vps54 T A 11: 21,218,832 (GRCm39) D130E probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zfp87 A T 13: 67,669,334 (GRCm39) N37K probably 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
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
R7783:Txndc16 UTSW 14 45,382,417 (GRCm39) missense probably benign 0.02
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'- GTTAAGCAATAAGTGTTTAAACTGCA -3'
(R):5'- CACTTTCAGTTAGTGAGTCAGAGTT -3'

Sequencing Primer
(F):5'- CTATAATCCCAGCACTGTGAGGTG -3'
(R):5'- AATCTATTGTTTGCTAGGTTCTGTTG -3'
Posted On 2015-03-25