Incidental Mutation 'IGL02349:Txnl4a'
ID 289415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnl4a
Ensembl Gene ENSMUSG00000057130
Gene Name thioredoxin-like 4A
Synonyms Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL02349
Quality Score
Status
Chromosome 18
Chromosomal Location 80250041-80269066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80261944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 60 (L60H)
Ref Sequence ENSEMBL: ENSMUSP00000115320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025464] [ENSMUST00000145963]
AlphaFold P83877
Predicted Effect probably damaging
Transcript: ENSMUST00000025464
AA Change: L60H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: L60H

DomainStartEndE-ValueType
Pfam:DIM1 4 93 4.1e-49 PFAM
Pfam:Thioredoxin 8 91 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130675
Predicted Effect probably damaging
Transcript: ENSMUST00000145963
AA Change: L60H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: L60H

DomainStartEndE-ValueType
Pfam:DIM1 4 136 3.4e-73 PFAM
Pfam:Thioredoxin 8 109 3.6e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,462 (GRCm39) I484V probably benign Het
Acly C T 11: 100,410,505 (GRCm39) E158K probably benign Het
Akap3 T A 6: 126,837,226 (GRCm39) D3E probably benign Het
Alg8 A G 7: 97,029,101 (GRCm39) N152S possibly damaging Het
Ano7 A G 1: 93,319,212 (GRCm39) T323A probably benign Het
Bmp1 T C 14: 70,744,989 (GRCm39) Y252C possibly damaging Het
Cacnb3 A T 15: 98,538,842 (GRCm39) K159* probably null Het
Capns2 T A 8: 93,628,690 (GRCm39) V193D probably benign Het
Cct2 A G 10: 116,889,044 (GRCm39) I48T probably benign Het
Cep152 A G 2: 125,436,876 (GRCm39) S555P probably damaging Het
Col5a3 T C 9: 20,683,657 (GRCm39) E1533G unknown Het
Cyp17a1 A G 19: 46,655,936 (GRCm39) L451P probably damaging Het
Dgcr8 T C 16: 18,098,170 (GRCm39) E407G possibly damaging Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Fgfr2 A G 7: 129,844,336 (GRCm39) Y50H probably damaging Het
Gars1 T A 6: 55,025,049 (GRCm39) probably benign Het
Gfpt2 A T 11: 49,698,530 (GRCm39) I42F probably benign Het
Glcci1 A G 6: 8,558,581 (GRCm39) K35E probably damaging Het
Gpatch1 T A 7: 35,006,680 (GRCm39) M163L probably damaging Het
Gpr132 T C 12: 112,816,475 (GRCm39) Y117C probably damaging Het
Ints1 G A 5: 139,754,223 (GRCm39) P650S probably damaging Het
Itga2b T C 11: 102,352,189 (GRCm39) D464G probably damaging Het
Kansl2 C A 15: 98,427,327 (GRCm39) G185C probably damaging Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Macir A G 1: 97,573,777 (GRCm39) L96P probably damaging Het
Map3k19 T A 1: 127,751,506 (GRCm39) D615V possibly damaging Het
Map3k7cl A G 16: 87,352,901 (GRCm39) probably benign Het
Msto1 A C 3: 88,818,205 (GRCm39) S360R possibly damaging Het
Myo15b C A 11: 115,753,931 (GRCm39) probably benign Het
Nhlrc2 T C 19: 56,580,151 (GRCm39) V428A possibly damaging Het
Or13a28 T C 7: 140,218,384 (GRCm39) F257L probably benign Het
Or1j19 A C 2: 36,677,058 (GRCm39) T174P possibly damaging Het
Or51a39 G A 7: 102,363,333 (GRCm39) R96C probably damaging Het
Or51f2 A T 7: 102,527,116 (GRCm39) Y263F probably benign Het
Or5p51 A G 7: 107,444,812 (GRCm39) S43P probably benign Het
Or8b12 T A 9: 37,657,502 (GRCm39) M24K probably benign Het
Pcm1 G T 8: 41,741,192 (GRCm39) probably null Het
Plekhg3 A T 12: 76,609,074 (GRCm39) N149I probably damaging Het
Rbp3 C A 14: 33,677,676 (GRCm39) H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 (GRCm39) probably null Het
Scyl2 A T 10: 89,493,800 (GRCm39) probably benign Het
Tas2r144 A C 6: 42,193,010 (GRCm39) H250P probably benign Het
Tmppe T C 9: 114,234,268 (GRCm39) V189A probably benign Het
Trp53bp1 G A 2: 121,029,555 (GRCm39) S1875L probably damaging Het
Upp2 A G 2: 58,667,898 (GRCm39) D217G probably benign Het
Vmn2r74 A G 7: 85,601,724 (GRCm39) L638P probably damaging Het
Vnn1 A G 10: 23,774,401 (GRCm39) N148S possibly damaging Het
Xrcc1 C T 7: 24,266,467 (GRCm39) Q241* probably null Het
Zfp990 A G 4: 145,257,447 (GRCm39) probably benign Het
Other mutations in Txnl4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Txnl4a APN 18 80,261,956 (GRCm39) missense probably benign 0.02
R1256:Txnl4a UTSW 18 80,250,487 (GRCm39) missense probably benign 0.07
R1263:Txnl4a UTSW 18 80,250,536 (GRCm39) missense probably benign 0.02
R1381:Txnl4a UTSW 18 80,250,479 (GRCm39) missense probably benign 0.01
R4165:Txnl4a UTSW 18 80,265,471 (GRCm39) missense probably benign 0.28
R4166:Txnl4a UTSW 18 80,265,471 (GRCm39) missense probably benign 0.28
R4836:Txnl4a UTSW 18 80,265,468 (GRCm39) missense probably damaging 1.00
R4903:Txnl4a UTSW 18 80,250,493 (GRCm39) missense probably damaging 0.98
R6026:Txnl4a UTSW 18 80,250,482 (GRCm39) missense probably damaging 0.98
R6275:Txnl4a UTSW 18 80,261,980 (GRCm39) missense possibly damaging 0.82
R8355:Txnl4a UTSW 18 80,250,539 (GRCm39) missense probably damaging 1.00
R8455:Txnl4a UTSW 18 80,250,539 (GRCm39) missense probably damaging 1.00
R9245:Txnl4a UTSW 18 80,261,937 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16