Incidental Mutation 'R2509:Tia1'
ID 251727
Institutional Source Beutler Lab
Gene Symbol Tia1
Ensembl Gene ENSMUSG00000071337
Gene Name cytotoxic granule-associated RNA binding protein 1
Synonyms 2310050N03Rik, mTIA-1
MMRRC Submission 040415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R2509 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86381201-86410387 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 86401312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095752] [ENSMUST00000095752] [ENSMUST00000095753] [ENSMUST00000095754] [ENSMUST00000095754] [ENSMUST00000113712] [ENSMUST00000113713] [ENSMUST00000130967] [ENSMUST00000148728] [ENSMUST00000123267] [ENSMUST00000154438] [ENSMUST00000204137]
AlphaFold P52912
Predicted Effect probably null
Transcript: ENSMUST00000095752
SMART Domains Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
RRM 96 169 5.15e-26 SMART
RRM 204 271 2.25e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095752
SMART Domains Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
RRM 96 169 5.15e-26 SMART
RRM 204 271 2.25e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095753
SMART Domains Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
low complexity region 82 104 N/A INTRINSIC
RRM 107 180 5.15e-26 SMART
RRM 215 282 2.25e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095754
SMART Domains Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
low complexity region 82 104 N/A INTRINSIC
RRM 107 180 5.15e-26 SMART
RRM 215 282 2.25e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095754
SMART Domains Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
low complexity region 82 104 N/A INTRINSIC
RRM 107 180 5.15e-26 SMART
RRM 215 282 2.25e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113708
SMART Domains Protein: ENSMUSP00000109338
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
low complexity region 82 104 N/A INTRINSIC
RRM 107 180 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113712
SMART Domains Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
low complexity region 82 104 N/A INTRINSIC
RRM 107 180 5.15e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113713
SMART Domains Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 81 1.62e-23 SMART
RRM 98 171 5.15e-26 SMART
RRM 206 273 2.25e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130967
SMART Domains Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 1.74e-23 SMART
RRM 96 169 5.15e-26 SMART
RRM 204 258 1.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124683
Predicted Effect probably benign
Transcript: ENSMUST00000148728
SMART Domains Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 7.3e-26 SMART
Pfam:RRM_1 97 131 1.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139928
Predicted Effect probably benign
Transcript: ENSMUST00000123267
SMART Domains Protein: ENSMUSP00000145407
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 12 79 1e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143718
Predicted Effect probably benign
Transcript: ENSMUST00000154438
SMART Domains Protein: ENSMUSP00000145218
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 7.3e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205109
Predicted Effect probably benign
Transcript: ENSMUST00000204137
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (105/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced postnatal survival and functional abnormalities in the immune system with no gross abnormalities in any of the major organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,200,102 (GRCm39) I497V probably benign Het
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,508,587 (GRCm39) probably benign Het
Ablim1 C T 19: 57,140,791 (GRCm39) R196Q probably damaging Het
Acot11 T C 4: 106,612,516 (GRCm39) I379V possibly damaging Het
Acot4 G A 12: 84,088,647 (GRCm39) G165D probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ahctf1 T C 1: 179,598,258 (GRCm39) S945G possibly damaging Het
Akr1c13 C T 13: 4,248,583 (GRCm39) R263C probably damaging Het
Arfgap1 T A 2: 180,615,846 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,101,633 (GRCm39) K103R probably damaging Het
Cabp1 A T 5: 115,310,843 (GRCm39) N211K probably damaging Het
Cacna1c T A 6: 118,711,943 (GRCm39) D261V probably damaging Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cast T C 13: 74,885,735 (GRCm39) I277V probably benign Het
Cenpj T C 14: 56,769,694 (GRCm39) K1165R probably null Het
Cenpk A G 13: 104,370,675 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,169 (GRCm39) K353E probably benign Het
Cmya5 T C 13: 93,230,066 (GRCm39) Q1674R probably benign Het
Cnnm1 T A 19: 43,430,325 (GRCm39) V481D probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2c50 G A 19: 40,079,013 (GRCm39) V119I probably benign Het
Dnah7b A G 1: 46,234,447 (GRCm39) T1460A probably damaging Het
Dnah8 G A 17: 30,994,019 (GRCm39) D3379N probably benign Het
Dnajc4 C T 19: 6,968,111 (GRCm39) R55H probably damaging Het
Ebf4 C T 2: 130,148,482 (GRCm39) R98* probably null Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Ercc8 T C 13: 108,320,251 (GRCm39) probably benign Het
Exo1 T C 1: 175,733,399 (GRCm39) F75S probably damaging Het
Fam168a G T 7: 100,483,391 (GRCm39) probably null Het
Fat3 G A 9: 15,836,310 (GRCm39) R4065W possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Gpr156 A G 16: 37,768,149 (GRCm39) R22G probably benign Het
Greb1 A G 12: 16,774,923 (GRCm39) V158A probably damaging Het
Grin2c T A 11: 115,141,894 (GRCm39) K842* probably null Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hnf4a T A 2: 163,408,161 (GRCm39) L329Q probably damaging Het
Hsp90ab1 A G 17: 45,880,267 (GRCm39) L92P probably damaging Het
Ido1 T A 8: 25,074,501 (GRCm39) R290* probably null Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift172 T C 5: 31,420,312 (GRCm39) N1108S probably benign Het
Igkv3-9 T A 6: 70,565,728 (GRCm39) M109K probably benign Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Iqck T G 7: 118,475,505 (GRCm39) M98R probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krtap1-3 C T 11: 99,481,653 (GRCm39) E165K unknown Het
Lair1 A G 7: 4,013,782 (GRCm39) L155P probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mast4 G T 13: 102,990,350 (GRCm39) S57Y probably damaging Het
Mical3 T C 6: 121,011,118 (GRCm39) H360R probably damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Nck2 T A 1: 43,593,393 (GRCm39) V200E probably damaging Het
Odad4 T G 11: 100,444,361 (GRCm39) L222R probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4b12 T C 2: 90,096,030 (GRCm39) Y248C possibly damaging Het
Or4c109 T G 2: 88,817,775 (GRCm39) Y257S probably damaging Het
Or4f60 T A 2: 111,902,837 (GRCm39) L30F probably benign Het
Or4k38 C T 2: 111,166,076 (GRCm39) V116I probably damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or8b12i A G 9: 20,082,525 (GRCm39) L114P probably damaging Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pask T A 1: 93,258,485 (GRCm39) I288F possibly damaging Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pip4p1 A T 14: 51,167,115 (GRCm39) Y129* probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkca T C 11: 107,870,032 (GRCm39) Y37C probably damaging Het
Rad18 T G 6: 112,652,883 (GRCm39) H238P possibly damaging Het
Rap1b T A 10: 117,654,444 (GRCm39) Q1L probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rpl3l A T 17: 24,951,360 (GRCm39) D87V possibly damaging Het
Scrn2 T C 11: 96,923,992 (GRCm39) V292A possibly damaging Het
Sdad1 A G 5: 92,453,684 (GRCm39) Y35H probably benign Het
Sez6l2 T C 7: 126,552,944 (GRCm39) S177P probably benign Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Shank1 T C 7: 44,001,148 (GRCm39) S956P unknown Het
Shank1 G A 7: 44,001,547 (GRCm39) A1089T unknown Het
Shprh G A 10: 11,042,468 (GRCm39) C817Y probably damaging Het
Spata22 C T 11: 73,236,593 (GRCm39) P300S probably damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stom C T 2: 35,210,354 (GRCm39) A217T probably damaging Het
Stpg1 T C 4: 135,263,960 (GRCm39) V341A probably benign Het
Tagap A G 17: 8,147,586 (GRCm39) T99A probably benign Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Thbs2 A G 17: 14,906,105 (GRCm39) V265A probably benign Het
Thyn1 A G 9: 26,911,316 (GRCm39) R3G possibly damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmc8 A G 11: 117,683,511 (GRCm39) T689A possibly damaging Het
Tmem11 A T 11: 60,755,807 (GRCm39) probably null Het
Tnik T C 3: 28,722,064 (GRCm39) V1310A probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim8 C T 19: 46,503,734 (GRCm39) P429S probably benign Het
Ttn C A 2: 76,687,756 (GRCm39) probably benign Het
Ulk2 T C 11: 61,678,340 (GRCm39) Y793C probably benign Het
Vill G A 9: 118,899,370 (GRCm39) V337M possibly damaging Het
Vps53 C A 11: 75,957,661 (GRCm39) V364F possibly damaging Het
Zan A T 5: 137,454,848 (GRCm39) I1396N unknown Het
Zfa-ps A C 10: 52,420,339 (GRCm39) noncoding transcript Het
Zfp426 T C 9: 20,381,977 (GRCm39) T337A possibly damaging Het
Zfp536 T C 7: 37,267,403 (GRCm39) E671G possibly damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly damaging Het
Other mutations in Tia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02643:Tia1 APN 6 86,393,372 (GRCm39) missense probably benign 0.16
R0322:Tia1 UTSW 6 86,397,369 (GRCm39) missense probably damaging 1.00
R1118:Tia1 UTSW 6 86,396,091 (GRCm39) missense probably benign 0.00
R1451:Tia1 UTSW 6 86,407,321 (GRCm39) missense probably benign 0.00
R1631:Tia1 UTSW 6 86,397,330 (GRCm39) missense probably damaging 1.00
R2275:Tia1 UTSW 6 86,404,659 (GRCm39) missense probably benign 0.00
R3952:Tia1 UTSW 6 86,393,319 (GRCm39) missense probably damaging 1.00
R4596:Tia1 UTSW 6 86,397,389 (GRCm39) missense probably benign 0.34
R4674:Tia1 UTSW 6 86,397,382 (GRCm39) missense probably damaging 0.99
R4919:Tia1 UTSW 6 86,401,305 (GRCm39) unclassified probably benign
R6339:Tia1 UTSW 6 86,403,638 (GRCm39) missense probably damaging 1.00
R6455:Tia1 UTSW 6 86,397,360 (GRCm39) missense probably damaging 1.00
R7139:Tia1 UTSW 6 86,404,670 (GRCm39) missense possibly damaging 0.95
R7804:Tia1 UTSW 6 86,401,364 (GRCm39) missense probably benign 0.02
R7879:Tia1 UTSW 6 86,401,347 (GRCm39) missense probably damaging 0.97
R8018:Tia1 UTSW 6 86,402,034 (GRCm39) missense probably benign 0.06
R8153:Tia1 UTSW 6 86,397,314 (GRCm39) missense probably damaging 0.99
R8172:Tia1 UTSW 6 86,404,682 (GRCm39) missense probably benign 0.38
R8268:Tia1 UTSW 6 86,404,996 (GRCm39) intron probably benign
R8275:Tia1 UTSW 6 86,404,718 (GRCm39) nonsense probably null
R8409:Tia1 UTSW 6 86,402,452 (GRCm39) missense possibly damaging 0.87
R8430:Tia1 UTSW 6 86,395,906 (GRCm39) missense probably benign 0.30
R8550:Tia1 UTSW 6 86,402,684 (GRCm39) missense probably benign 0.01
R8678:Tia1 UTSW 6 86,402,685 (GRCm39) missense probably benign 0.01
R9578:Tia1 UTSW 6 86,407,347 (GRCm39) makesense probably null
Predicted Primers
Posted On 2014-12-04