Incidental Mutation 'R5629:Tial1'
ID 501349
Institutional Source Beutler Lab
Gene Symbol Tial1
Ensembl Gene ENSMUSG00000030846
Gene Name Tia1 cytotoxic granule-associated RNA binding protein-like 1
Synonyms TIAR, mTIAR, 5330433G13Rik
MMRRC Submission 043280-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # R5629 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128041501-128063441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128046421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 87 (D87V)
Ref Sequence ENSEMBL: ENSMUSP00000145933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033135] [ENSMUST00000106226] [ENSMUST00000106228] [ENSMUST00000123666] [ENSMUST00000133444] [ENSMUST00000141126] [ENSMUST00000165023] [ENSMUST00000205835] [ENSMUST00000205278]
AlphaFold P70318
Predicted Effect possibly damaging
Transcript: ENSMUST00000033135
AA Change: D218V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: D218V

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 possibly damaging
Transcript: ENSMUST00000106226
AA Change: D235V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: D235V

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: D179V
SMART Domains Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: D179V

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 possibly damaging
Transcript: ENSMUST00000133444
AA Change: D32V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141079
Predicted Effect probably damaging
Transcript: ENSMUST00000141126
AA Change: D87V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000165023
AA Change: D218V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: D218V

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: ENSMUST00000205835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205774
Predicted Effect probably benign
Transcript: ENSMUST00000205278
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,014,507 (GRCm39) D189N probably benign Het
Adamts9 A T 6: 92,775,114 (GRCm39) V1052D probably damaging Het
Apob T C 12: 8,057,847 (GRCm39) Y2077H probably damaging Het
Apol7e A T 15: 77,602,276 (GRCm39) K291N probably benign Het
Arsk A T 13: 76,242,027 (GRCm39) I82N probably damaging Het
Art1 A G 7: 101,756,286 (GRCm39) Q159R probably benign Het
Atp2a2 A G 5: 122,598,159 (GRCm39) V733A probably damaging Het
Btn2a2 A T 13: 23,666,130 (GRCm39) probably null Het
Catsper1 C T 19: 5,386,165 (GRCm39) P133S probably benign Het
Celsr3 A G 9: 108,726,266 (GRCm39) D3165G probably benign Het
Cldn19 T A 4: 119,114,116 (GRCm39) V86E probably damaging Het
Ctnna1 T A 18: 35,382,802 (GRCm39) D649E probably benign Het
Cttnbp2 A G 6: 18,405,217 (GRCm39) I1094T probably damaging Het
Ddx24 T C 12: 103,391,806 (GRCm39) probably benign Het
Ern2 T A 7: 121,769,389 (GRCm39) H879L probably damaging Het
Etv4 T A 11: 101,662,751 (GRCm39) H277L probably damaging Het
Faap100 G T 11: 120,267,837 (GRCm39) A312D probably damaging Het
Glipr1l1 G A 10: 111,914,308 (GRCm39) C223Y possibly damaging Het
Gna14 T C 19: 16,414,097 (GRCm39) S14P possibly damaging Het
Hapln1 A G 13: 89,749,634 (GRCm39) T60A probably damaging Het
Hars2 T A 18: 36,921,719 (GRCm39) Y273* probably null Het
Ighv5-6 A T 12: 113,589,242 (GRCm39) Y79* probably null Het
Iqgap2 T A 13: 95,768,682 (GRCm39) N1406I probably damaging Het
Kalrn T C 16: 33,860,304 (GRCm39) T215A possibly damaging Het
Krtap13-1 T A 16: 88,526,047 (GRCm39) S90R probably benign Het
Mettl8 T C 2: 70,795,913 (GRCm39) I372V probably benign Het
Mfn1 A T 3: 32,615,659 (GRCm39) T341S possibly damaging Het
Mocos T A 18: 24,797,142 (GRCm39) probably null Het
Muc5b T C 7: 141,415,036 (GRCm39) S2661P possibly damaging Het
Myo15a C T 11: 60,370,578 (GRCm39) P1113S probably benign Het
Myo5a A T 9: 75,111,127 (GRCm39) I1540F possibly damaging Het
Myoc T C 1: 162,476,156 (GRCm39) Y287H probably damaging Het
Napepld A G 5: 21,880,901 (GRCm39) F165L probably benign Het
Ndufb10 T C 17: 24,941,656 (GRCm39) E102G probably damaging Het
Nrros T A 16: 31,963,223 (GRCm39) I265F probably damaging Het
Nrxn1 A T 17: 90,897,460 (GRCm39) F891I possibly damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Oas2 G A 5: 120,876,516 (GRCm39) Q476* probably null Het
Or51f5 A T 7: 102,423,847 (GRCm39) I39F possibly damaging Het
Pcnx2 C A 8: 126,624,780 (GRCm39) W14L probably damaging Het
Pip4p1 T C 14: 51,165,373 (GRCm39) H278R probably benign Het
Piwil2 C T 14: 70,660,416 (GRCm39) V70M probably damaging Het
Prss23 A C 7: 89,159,400 (GRCm39) V223G probably damaging Het
Rarres2 A T 6: 48,547,194 (GRCm39) L122Q probably benign Het
Robo1 T C 16: 72,780,598 (GRCm39) V776A probably benign Het
Robo3 G A 9: 37,330,507 (GRCm39) Q1008* probably null Het
Robo4 G A 9: 37,319,658 (GRCm39) C636Y probably damaging Het
Sacm1l A G 9: 123,395,464 (GRCm39) M196V probably benign Het
Septin7 T A 9: 25,199,589 (GRCm39) Y163N probably damaging Het
Skint6 G A 4: 112,870,176 (GRCm39) T594I possibly damaging Het
Slc23a1 T C 18: 35,759,545 (GRCm39) H13R probably benign Het
Slc25a39 A C 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc8a3 G A 12: 81,246,405 (GRCm39) R883C probably damaging Het
Spag17 A T 3: 99,987,435 (GRCm39) Y1575F probably benign Het
Spdye4c T A 2: 128,438,705 (GRCm39) I321N probably damaging Het
Stk32b G A 5: 37,614,576 (GRCm39) P311S probably damaging Het
Svs3a T A 2: 164,132,040 (GRCm39) S203T probably benign Het
Taf3 A T 2: 9,922,989 (GRCm39) I45N probably damaging Het
Taf7 T C 18: 37,776,555 (GRCm39) N4S probably benign Het
Tmem120a T A 5: 135,770,904 (GRCm39) E78V probably benign Het
Tmem19 A G 10: 115,183,165 (GRCm39) F137L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trim30d T C 7: 104,137,136 (GRCm39) K23E possibly damaging Het
Ubxn7 C A 16: 32,151,117 (GRCm39) H4Q unknown Het
Usp40 C T 1: 87,908,731 (GRCm39) R590H probably benign Het
Vmn1r90 A G 7: 14,296,011 (GRCm39) M22T possibly damaging Het
Vmn2r1 G A 3: 64,012,538 (GRCm39) V800M possibly damaging Het
Vps11 A T 9: 44,267,673 (GRCm39) I313N probably damaging Het
Zhx1 A G 15: 57,918,207 (GRCm39) V13A probably damaging Het
Zic4 G A 9: 91,260,805 (GRCm39) R20H probably benign Het
Zp3r C T 1: 130,510,616 (GRCm39) V369M 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
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
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
Predicted Primers PCR Primer
(F):5'- AATTGACACCTTTCAGTTGGC -3'
(R):5'- GAAGATGTAGTAAACCAGTCAAGTCC -3'

Sequencing Primer
(F):5'- CCATAGGTAAACGAACATCTAGTAAG -3'
(R):5'- CTGTGTACTGTGGAGGAA -3'
Posted On 2017-12-01