Incidental Mutation 'IGL02623:Tial1'
ID 300939
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 # IGL02623
Quality Score
Status
Chromosome 7
Chromosomal Location 128041501-128063441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128045607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 326 (Y326H)
Ref Sequence ENSEMBL: ENSMUSP00000101833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033135] [ENSMUST00000106226] [ENSMUST00000106228] [ENSMUST00000123666] [ENSMUST00000133444] [ENSMUST00000165023] [ENSMUST00000141126] [ENSMUST00000205278] [ENSMUST00000205835]
AlphaFold P70318
Predicted Effect probably benign
Transcript: ENSMUST00000033135
AA Change: Y309H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: Y309H

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
AA Change: Y326H

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: Y326H

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 unknown
Transcript: ENSMUST00000106228
AA Change: Y270H
SMART Domains Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: Y270H

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 noncoding transcript
Transcript: ENSMUST00000136782
Predicted Effect probably benign
Transcript: ENSMUST00000165023
AA Change: Y309H

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: Y309H

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
AA Change: Y178H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152328
Predicted Effect probably benign
Transcript: ENSMUST00000205278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141079
Predicted Effect probably benign
Transcript: ENSMUST00000205835
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging Het
Other mutations in Tial1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Tial1 APN 7 128,050,069 (GRCm39) missense probably damaging 1.00
IGL02936:Tial1 APN 7 128,044,387 (GRCm39) splice site probably benign
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 2015-04-16