Incidental Mutation 'IGL01637:Txnl1'
ID 93084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnl1
Ensembl Gene ENSMUSG00000024583
Gene Name thioredoxin-like 1
Synonyms TRP32, 32kDa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # IGL01637
Quality Score
Status
Chromosome 18
Chromosomal Location 63795872-63825535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63807262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 198 (I198N)
Ref Sequence ENSEMBL: ENSMUSP00000025476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025476]
AlphaFold Q8CDN6
Predicted Effect probably damaging
Transcript: ENSMUST00000025476
AA Change: I198N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025476
Gene: ENSMUSG00000024583
AA Change: I198N

DomainStartEndE-ValueType
Pfam:Thioredoxin 6 106 5.8e-19 PFAM
Pfam:PITH 126 268 1.8e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,604,109 (GRCm39) I384N probably damaging Het
Adsl G T 15: 80,832,901 (GRCm39) Q51H probably null Het
Apcdd1 A G 18: 63,070,357 (GRCm39) E208G probably damaging Het
Arrdc4 G A 7: 68,394,580 (GRCm39) R155* probably null Het
Atp9b T C 18: 80,799,670 (GRCm39) E823G probably benign Het
Bmp1 A G 14: 70,729,901 (GRCm39) W468R probably damaging Het
C6 A G 15: 4,789,399 (GRCm39) I281M possibly damaging Het
Ccdc88b T C 19: 6,824,078 (GRCm39) T1392A probably benign Het
Dhx34 G T 7: 15,939,398 (GRCm39) S665Y probably damaging Het
Dock1 A T 7: 134,739,542 (GRCm39) probably null Het
Dpp7 T C 2: 25,244,625 (GRCm39) N252S probably benign Het
Dyrk2 A G 10: 118,696,412 (GRCm39) V282A probably damaging Het
Edrf1 T C 7: 133,252,254 (GRCm39) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm39) V150A probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gabrg1 T A 5: 70,934,548 (GRCm39) T277S probably damaging Het
Galntl5 T C 5: 25,394,823 (GRCm39) probably benign Het
Gbp2b A G 3: 142,304,073 (GRCm39) N56S probably damaging Het
Gfm2 T A 13: 97,286,917 (GRCm39) V172E probably damaging Het
Gm10419 T C 5: 108,520,224 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,906 (GRCm39) noncoding transcript Het
Gstm3 T C 3: 107,874,949 (GRCm39) E101G probably damaging Het
Ifnlr1 T C 4: 135,413,856 (GRCm39) W2R possibly damaging Het
Ighv13-1 A T 12: 114,231,353 (GRCm39) probably benign Het
Ighv7-1 T A 12: 113,860,123 (GRCm39) I90F possibly damaging Het
Itga2b A G 11: 102,346,409 (GRCm39) L1009P probably damaging Het
Kif1a A G 1: 92,967,575 (GRCm39) V1112A possibly damaging Het
Kif5a A T 10: 127,081,237 (GRCm39) D232E possibly damaging Het
Klb G A 5: 65,533,022 (GRCm39) probably null Het
Lrriq1 G A 10: 103,051,489 (GRCm39) A421V probably benign Het
Mdga1 G A 17: 30,058,845 (GRCm39) R721C probably damaging Het
Mrpl48 G T 7: 100,199,739 (GRCm39) probably benign Het
Myo18b T A 5: 112,988,495 (GRCm39) R1030S possibly damaging Het
Nf1 T A 11: 79,437,946 (GRCm39) H2101Q probably damaging Het
Nlrp3 C A 11: 59,440,204 (GRCm39) L594I probably damaging Het
Notch2 C T 3: 98,053,376 (GRCm39) T2013I probably damaging Het
Or2ah1 A T 2: 85,653,332 (GRCm39) T6S probably benign Het
Or2y3 G A 17: 38,392,994 (GRCm39) L292F possibly damaging Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c216 A G 10: 129,678,479 (GRCm39) L144P probably benign Het
Or7g27 T C 9: 19,250,260 (GRCm39) F168S probably damaging Het
Panx3 T C 9: 37,575,352 (GRCm39) D170G probably damaging Het
Pclo A G 5: 14,590,048 (GRCm39) S783G unknown Het
Pde3b T A 7: 114,126,136 (GRCm39) L790* probably null Het
Pik3r2 T C 8: 71,224,992 (GRCm39) probably benign Het
Rassf4 A G 6: 116,618,651 (GRCm39) F211L probably damaging Het
Rbl2 C T 8: 91,833,066 (GRCm39) P666S probably benign Het
Rnf123 A G 9: 107,935,437 (GRCm39) F979L probably damaging Het
Rock2 T A 12: 17,015,172 (GRCm39) D788E probably benign Het
Serpina3b A G 12: 104,099,216 (GRCm39) T244A probably benign Het
Setd1b T C 5: 123,286,576 (GRCm39) S541P unknown Het
Slc12a4 T C 8: 106,687,339 (GRCm39) D60G possibly damaging Het
Stac2 T C 11: 97,932,180 (GRCm39) E241G probably benign Het
Tafa3 C T 3: 104,680,395 (GRCm39) V75M probably damaging Het
Tas2r115 A G 6: 132,714,592 (GRCm39) Y120H probably damaging Het
Tmtc2 A T 10: 105,205,946 (GRCm39) F450I probably benign Het
Ubr2 A T 17: 47,267,580 (GRCm39) M1049K probably damaging Het
Ugt2b5 T C 5: 87,287,759 (GRCm39) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm39) T3623I probably damaging Het
Usp13 T A 3: 32,973,213 (GRCm39) S797T probably benign Het
Vmn1r173 A T 7: 23,402,373 (GRCm39) T203S probably damaging Het
Vwf T A 6: 125,622,699 (GRCm39) I1718N probably damaging Het
Zfr A G 15: 12,159,732 (GRCm39) H676R probably benign Het
Other mutations in Txnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Txnl1 APN 18 63,807,114 (GRCm39) splice site probably null
R0631:Txnl1 UTSW 18 63,804,644 (GRCm39) splice site probably benign
R0638:Txnl1 UTSW 18 63,825,135 (GRCm39) splice site probably benign
R0948:Txnl1 UTSW 18 63,825,191 (GRCm39) missense possibly damaging 0.74
R1233:Txnl1 UTSW 18 63,808,539 (GRCm39) missense probably benign
R1990:Txnl1 UTSW 18 63,812,585 (GRCm39) missense probably benign
R1991:Txnl1 UTSW 18 63,812,585 (GRCm39) missense probably benign
R1992:Txnl1 UTSW 18 63,812,585 (GRCm39) missense probably benign
R2308:Txnl1 UTSW 18 63,804,691 (GRCm39) missense probably benign 0.38
R2979:Txnl1 UTSW 18 63,804,691 (GRCm39) missense probably benign 0.38
R4321:Txnl1 UTSW 18 63,812,561 (GRCm39) missense possibly damaging 0.63
R4352:Txnl1 UTSW 18 63,804,750 (GRCm39) missense possibly damaging 0.66
R4691:Txnl1 UTSW 18 63,804,750 (GRCm39) missense possibly damaging 0.66
R5218:Txnl1 UTSW 18 63,812,538 (GRCm39) missense probably benign 0.45
R5471:Txnl1 UTSW 18 63,809,997 (GRCm39) missense probably damaging 1.00
R5586:Txnl1 UTSW 18 63,797,396 (GRCm39) missense probably damaging 1.00
R7174:Txnl1 UTSW 18 63,804,667 (GRCm39) missense probably benign 0.06
R9273:Txnl1 UTSW 18 63,825,325 (GRCm39) start gained probably benign
R9308:Txnl1 UTSW 18 63,812,446 (GRCm39) missense probably benign 0.02
R9461:Txnl1 UTSW 18 63,810,050 (GRCm39) missense probably benign 0.00
X0026:Txnl1 UTSW 18 63,807,140 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09