Incidental Mutation 'IGL02386:Tial1'
ID291553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tial1
Ensembl Gene ENSMUSG00000030846
Gene NameTia1 cytotoxic granule-associated RNA binding protein-like 1
SynonymsmTIAR, 5330433G13Rik, TIAR
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.727) question?
Stock #IGL02386
Quality Score
Status
Chromosome7
Chromosomal Location128439777-128461717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128448345 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000116921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033135] [ENSMUST00000106226] [ENSMUST00000106228] [ENSMUST00000123666] [ENSMUST00000133444] [ENSMUST00000141126] [ENSMUST00000165023] [ENSMUST00000205278] [ENSMUST00000205835]
Predicted Effect probably benign
Transcript: ENSMUST00000033135
AA Change: S94P

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: S94P

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: S111P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: S111P

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
AA Change: S55P

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: S55P

DomainStartEndE-ValueType
Pfam:RRM_1 11 50 1.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123666
AA Change: S94P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116921
Gene: ENSMUSG00000030846
AA Change: S94P

DomainStartEndE-ValueType
RRM 10 81 3.2e-22 SMART
Pfam:RRM_1 99 132 1.3e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133089
AA Change: S1P
Predicted Effect probably benign
Transcript: ENSMUST00000133444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141079
Predicted Effect probably benign
Transcript: ENSMUST00000141126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152328
Predicted Effect probably benign
Transcript: ENSMUST00000165023
AA Change: S94P

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: S94P

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: ENSMUST00000205278
AA Change: S99P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205774
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,500,437 noncoding transcript Het
Abhd17b T C 19: 21,680,899 Y167H possibly damaging Het
Ablim1 T C 19: 57,134,654 D167G probably damaging Het
Bpnt1 G T 1: 185,338,175 K21N probably damaging Het
Cables2 A G 2: 180,261,638 V251A probably benign Het
Cyp2b13 T C 7: 26,086,013 L269P probably damaging Het
Dhodh A G 8: 109,594,764 I330T probably damaging Het
Dnah5 T A 15: 28,340,381 D2311E probably damaging Het
Dph1 T C 11: 75,183,602 D128G probably benign Het
Dsg1c T A 18: 20,276,999 I508N probably benign Het
Eftud2 T C 11: 102,851,754 probably null Het
Fstl4 T A 11: 52,773,871 H9Q probably benign Het
Glra3 A T 8: 56,089,028 M269L probably benign Het
Gpatch8 C A 11: 102,508,157 R83L unknown Het
Gss A G 2: 155,573,170 V205A probably benign Het
Ifi30 A G 8: 70,764,760 probably benign Het
Itch T A 2: 155,202,261 Y495* probably null Het
Lilrb4a C T 10: 51,491,226 Q22* probably null Het
Mest T C 6: 30,744,914 F201S possibly damaging Het
Myh8 T A 11: 67,294,440 I839N probably damaging Het
Myo7a C T 7: 98,075,112 G1122E probably damaging Het
Ntan1 T A 16: 13,835,199 M273K probably benign Het
Numa1 A G 7: 102,007,532 K1548R probably benign Het
Obsl1 A G 1: 75,492,517 V1260A probably damaging Het
Olfr1258 T C 2: 89,930,544 V245A probably damaging Het
Olfr1271 T A 2: 90,265,951 I160F probably damaging Het
Pde10a A G 17: 8,953,804 S669G possibly damaging Het
Ppargc1b T C 18: 61,323,151 D79G probably damaging Het
Rnf103 A G 6: 71,509,218 T278A probably benign Het
Slc22a4 C A 11: 53,988,772 probably benign Het
Snx25 A T 8: 46,041,349 M833K possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Susd2 A T 10: 75,640,095 Y357N probably damaging Het
Syne4 C A 7: 30,316,234 S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,075,821 G40C probably damaging Het
Tle3 A G 9: 61,394,659 T117A possibly damaging Het
Usp48 A C 4: 137,604,523 R73S possibly damaging Het
Utrn G T 10: 12,421,608 D685E possibly damaging Het
Other mutations in Tial1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02623:Tial1 APN 7 128443883 missense probably benign 0.12
IGL02936:Tial1 APN 7 128442663 splice site probably benign
R0798:Tial1 UTSW 7 128443878 missense probably benign 0.04
R1583:Tial1 UTSW 7 128443910 missense probably damaging 1.00
R1913:Tial1 UTSW 7 128444659 missense probably damaging 1.00
R4863:Tial1 UTSW 7 128455028 missense probably damaging 1.00
R5026:Tial1 UTSW 7 128448396 missense probably damaging 0.97
R5039:Tial1 UTSW 7 128443968 intron probably benign
R5629:Tial1 UTSW 7 128444697 missense probably damaging 0.97
R6697:Tial1 UTSW 7 128444869 missense possibly damaging 0.94
R8072:Tial1 UTSW 7 128442470 missense unknown
R8178:Tial1 UTSW 7 128444890 missense probably benign 0.01
R8937:Tial1 UTSW 7 128454991 missense probably damaging 1.00
Z1177:Tial1 UTSW 7 128442639 missense possibly damaging 0.89
Posted On2015-04-16