Incidental Mutation 'R3785:Txnl4b'
ID 272216
Institutional Source Beutler Lab
Gene Symbol Txnl4b
Ensembl Gene ENSMUSG00000031723
Gene Name thioredoxin-like 4B
Synonyms Dim2, D530025J19Rik
MMRRC Submission 040752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R3785 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110292524-110300683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110299409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 123 (A123V)
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: A123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723
AA Change: A123V

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: A123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723
AA Change: A123V

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
Meta Mutation Damage Score 0.6654 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A2ml1 C T 6: 128,521,887 (GRCm39) probably null Het
Aak1 T C 6: 86,942,560 (GRCm39) F701S unknown Het
Arid2 T A 15: 96,270,439 (GRCm39) D1517E possibly damaging Het
Cyp2r1 C T 7: 114,153,931 (GRCm39) V88I possibly damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dnah11 G T 12: 117,981,337 (GRCm39) Q2610K probably damaging Het
Gm5698 T C 1: 31,016,560 (GRCm39) T164A probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Gpx6 A G 13: 21,497,956 (GRCm39) T76A probably benign Het
Htra3 A T 5: 35,828,472 (GRCm39) L136H probably benign Het
Ifitm10 G A 7: 141,882,335 (GRCm39) T145I possibly damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Kcnd3 C A 3: 105,575,541 (GRCm39) T555K possibly damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Mcf2l G T 8: 12,930,099 (GRCm39) G40C probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Mus81 G A 19: 5,535,389 (GRCm39) probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Mypn C A 10: 63,028,961 (GRCm39) R34L probably benign Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Or4f56 T C 2: 111,703,831 (GRCm39) Y123C probably damaging Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Or9g3 G A 2: 85,589,797 (GRCm39) P308S probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf5 A G 17: 34,820,906 (GRCm39) probably null Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Slc13a4 T A 6: 35,264,827 (GRCm39) T131S probably damaging Het
Slc9a4 C A 1: 40,623,130 (GRCm39) P123Q probably damaging Het
Stxbp4 T A 11: 90,426,441 (GRCm39) probably null Het
Swt1 T C 1: 151,255,155 (GRCm39) D814G probably benign Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Zfp26 A T 9: 20,349,098 (GRCm39) C489S probably damaging Het
Zfp804b G A 5: 6,820,153 (GRCm39) T934M possibly damaging Het
Other mutations in Txnl4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Txnl4b APN 8 110,295,707 (GRCm39) missense probably benign 0.00
IGL02817:Txnl4b APN 8 110,299,478 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTCCTAGACCTGCGGAAAAG -3'
(R):5'- GGCAGTGAACATGTCTCTGAAG -3'

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