Incidental Mutation 'IGL02349:Txnl4a'
ID289415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnl4a
Ensembl Gene ENSMUSG00000057130
Gene Namethioredoxin-like 4A
SynonymsTxnl4, U5-15kDa, ENSMUSG00000057130, D18Wsu98e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02349
Quality Score
Status
Chromosome18
Chromosomal Location80206795-80223533 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80218729 bp
ZygosityHeterozygous
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]
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: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Txnl4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Txnl4a APN 18 80218741 missense probably benign 0.02
R1256:Txnl4a UTSW 18 80207272 missense probably benign 0.07
R1263:Txnl4a UTSW 18 80207321 missense probably benign 0.02
R1381:Txnl4a UTSW 18 80207264 missense probably benign 0.01
R4165:Txnl4a UTSW 18 80222256 missense probably benign 0.28
R4166:Txnl4a UTSW 18 80222256 missense probably benign 0.28
R4836:Txnl4a UTSW 18 80222253 missense probably damaging 1.00
R4903:Txnl4a UTSW 18 80207278 missense probably damaging 0.98
R6026:Txnl4a UTSW 18 80207267 missense probably damaging 0.98
R6275:Txnl4a UTSW 18 80218765 missense possibly damaging 0.82
Posted On2015-04-16