Incidental Mutation 'IGL02936:Tial1'
ID 364339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tial1
Ensembl Gene ENSMUSG00000030846
Gene Name Tia1 cytotoxic granule-associated RNA binding protein-like 1
Synonyms TIAR, mTIAR, 5330433G13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # IGL02936
Quality Score
Status
Chromosome 7
Chromosomal Location 128041501-128063441 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 128044387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033135] [ENSMUST00000106226] [ENSMUST00000106228] [ENSMUST00000123666] [ENSMUST00000133444] [ENSMUST00000165023] [ENSMUST00000141126] [ENSMUST00000205835] [ENSMUST00000205278]
AlphaFold P70318
Predicted Effect probably benign
Transcript: ENSMUST00000033135
SMART Domains Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846

DomainStartEndE-ValueType
RRM 10 81 3.2e-22 SMART
RRM 98 171 2.76e-26 SMART
RRM 206 273 1.19e-16 SMART
low complexity region 343 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106226
SMART Domains Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846

DomainStartEndE-ValueType
RRM 10 98 7.41e-18 SMART
RRM 115 188 2.76e-26 SMART
RRM 223 290 1.19e-16 SMART
low complexity region 360 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106228
SMART Domains Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846

DomainStartEndE-ValueType
Pfam:RRM_1 11 50 1.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123666
SMART Domains Protein: ENSMUSP00000116921
Gene: ENSMUSG00000030846

DomainStartEndE-ValueType
RRM 10 81 3.2e-22 SMART
Pfam:RRM_1 99 132 1.3e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133089
Predicted Effect probably benign
Transcript: ENSMUST00000133444
Predicted Effect probably benign
Transcript: ENSMUST00000165023
SMART Domains Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846

DomainStartEndE-ValueType
RRM 10 81 3.2e-22 SMART
RRM 98 171 2.76e-26 SMART
RRM 206 273 1.19e-16 SMART
low complexity region 343 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141079
Predicted Effect probably benign
Transcript: ENSMUST00000205835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205774
Predicted Effect probably benign
Transcript: ENSMUST00000205278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152328
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 a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial embryonic lethality and reduced postnatal survival, reduced embryonic and postnatal body weight, and male and female sterility. Infertility is owed to a substantial decrease in the survival of primordial germ cells atthe genital ridge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Crtc3 A G 7: 80,239,511 (GRCm39) F614L probably damaging Het
Csn3 T G 5: 88,077,992 (GRCm39) I166S possibly damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Llcfc1 T A 6: 41,661,593 (GRCm39) S48T probably benign Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mthfd2 G A 6: 83,288,342 (GRCm39) H138Y probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Rccd1 T A 7: 79,966,794 (GRCm39) K329N probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Tial1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Tial1 APN 7 128,050,069 (GRCm39) missense probably damaging 1.00
IGL02623:Tial1 APN 7 128,045,607 (GRCm39) missense probably benign 0.12
Neoblimp UTSW 7 128,050,415 (GRCm39) missense possibly damaging 0.94
R0798:Tial1 UTSW 7 128,045,602 (GRCm39) missense probably benign 0.04
R1583:Tial1 UTSW 7 128,045,634 (GRCm39) missense probably damaging 1.00
R1913:Tial1 UTSW 7 128,046,383 (GRCm39) missense probably damaging 1.00
R4863:Tial1 UTSW 7 128,056,752 (GRCm39) missense probably damaging 1.00
R5026:Tial1 UTSW 7 128,050,120 (GRCm39) missense probably damaging 0.97
R5039:Tial1 UTSW 7 128,045,692 (GRCm39) intron probably benign
R5629:Tial1 UTSW 7 128,046,421 (GRCm39) missense probably damaging 0.97
R6697:Tial1 UTSW 7 128,046,593 (GRCm39) missense possibly damaging 0.94
R8072:Tial1 UTSW 7 128,044,194 (GRCm39) missense unknown
R8178:Tial1 UTSW 7 128,046,614 (GRCm39) missense probably benign 0.01
R8937:Tial1 UTSW 7 128,056,715 (GRCm39) missense probably damaging 1.00
R9162:Tial1 UTSW 7 128,050,415 (GRCm39) missense possibly damaging 0.94
R9385:Tial1 UTSW 7 128,044,209 (GRCm39) missense unknown
Z1177:Tial1 UTSW 7 128,044,363 (GRCm39) missense possibly damaging 0.89
Posted On 2015-12-18