Incidental Mutation 'IGL02817:Txnl4b'
ID 360823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnl4b
Ensembl Gene ENSMUSG00000031723
Gene Name thioredoxin-like 4B
Synonyms Dim2, D530025J19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL02817
Quality Score
Status
Chromosome 8
Chromosomal Location 110292524-110300683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110299478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 146 (Y146C)
Ref Sequence ENSEMBL: ENSMUSP00000137524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898] [ENSMUST00000178445]
AlphaFold Q8BUH1
Predicted Effect probably damaging
Transcript: ENSMUST00000034159
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723
AA Change: Y146C

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.6e-58 PFAM
Pfam:Thioredoxin 6 109 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074898
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722

DomainStartEndE-ValueType
CCP 33 86 2.9e0 SMART
Tryp_SPc 102 340 4.38e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178445
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723
AA Change: Y146C

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.2e-58 PFAM
Pfam:Thioredoxin 6 110 2.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212918
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dmc1 G A 15: 79,472,964 (GRCm39) T161I probably damaging Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Grik4 T C 9: 42,534,235 (GRCm39) N349S probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Nalf1 A T 8: 9,257,994 (GRCm39) C385S probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or2a51 A T 6: 43,178,993 (GRCm39) R138S probably benign Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Snx27 A G 3: 94,410,770 (GRCm39) L460P probably damaging Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging Het
Other mutations in Txnl4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Txnl4b APN 8 110,295,707 (GRCm39) missense probably benign 0.00
rumpled UTSW 8 110,295,735 (GRCm39) splice site probably null
R0504:Txnl4b UTSW 8 110,298,103 (GRCm39) missense probably benign 0.10
R2233:Txnl4b UTSW 8 110,295,551 (GRCm39) start gained probably benign
R3785:Txnl4b UTSW 8 110,299,409 (GRCm39) missense probably damaging 1.00
R3787:Txnl4b UTSW 8 110,299,409 (GRCm39) missense probably damaging 1.00
R4173:Txnl4b UTSW 8 110,295,706 (GRCm39) missense probably benign 0.01
R6278:Txnl4b UTSW 8 110,295,735 (GRCm39) splice site probably null
R8463:Txnl4b UTSW 8 110,299,430 (GRCm39) missense possibly damaging 0.92
R8895:Txnl4b UTSW 8 110,299,467 (GRCm39) nonsense probably null
R9314:Txnl4b UTSW 8 110,299,331 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18