Incidental Mutation 'R8153:Tia1'
ID 633134
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 067579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R8153 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86381201-86410387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 86397314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 107 (H107D)
Ref Sequence ENSEMBL: ENSMUSP00000093425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095752] [ENSMUST00000095753] [ENSMUST00000095754] [ENSMUST00000113712] [ENSMUST00000113713] [ENSMUST00000130967] [ENSMUST00000148728] [ENSMUST00000154438]
AlphaFold P52912
PDB Structure Solution structure of the second RNA recognition motif (RRM) of TIA-1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000095752
AA Change: H96D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: H96D

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 damaging
Transcript: ENSMUST00000095753
AA Change: H107D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: H107D

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 damaging
Transcript: ENSMUST00000095754
AA Change: H107D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: H107D

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 damaging
Transcript: ENSMUST00000113712
AA Change: H107D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: H107D

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 possibly damaging
Transcript: ENSMUST00000113713
AA Change: H98D

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: H98D

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 damaging
Transcript: ENSMUST00000130967
AA Change: H96D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: H96D

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 probably damaging
Transcript: ENSMUST00000148728
AA Change: H96D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337
AA Change: H96D

DomainStartEndE-ValueType
RRM 8 79 7.3e-26 SMART
Pfam:RRM_1 97 131 1.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154438
SMART Domains Protein: ENSMUSP00000145218
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 7.3e-26 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,157 (GRCm39) S287T probably benign Het
Abca15 T C 7: 119,999,812 (GRCm39) S1429P probably damaging Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,676,383 (GRCm39) 92 probably null Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Cachd1 G T 4: 100,845,835 (GRCm39) probably null Het
Cfap61 T C 2: 146,042,704 (GRCm39) I1159T probably benign Het
Csf1 T A 3: 107,656,020 (GRCm39) D337V probably damaging Het
Ddhd2 T A 8: 26,240,816 (GRCm39) T251S probably benign Het
Dnah5 A G 15: 28,384,576 (GRCm39) T3107A probably damaging Het
Dnph1 T C 17: 46,809,965 (GRCm39) V169A probably benign Het
Ebf2 T C 14: 67,627,914 (GRCm39) V303A probably damaging Het
Eif4a3l2 A T 6: 116,528,968 (GRCm39) I282F probably damaging Het
Enpp3 A G 10: 24,685,777 (GRCm39) F206S probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fpr-rs3 A G 17: 20,844,685 (GRCm39) L152P probably damaging Het
Gen1 C A 12: 11,310,948 (GRCm39) G95W probably damaging Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Gm4884 T A 7: 40,692,582 (GRCm39) C184S probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gsx2 T C 5: 75,237,716 (GRCm39) S223P probably damaging Het
Hnf4g C T 3: 3,699,250 (GRCm39) probably benign Het
Iqub A C 6: 24,450,789 (GRCm39) Y603* probably null Het
Klhl22 A G 16: 17,610,414 (GRCm39) N555S probably damaging Het
Lama5 T C 2: 179,829,724 (GRCm39) D1928G probably benign Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Lamc2 CATCAGCTA CA 1: 152,999,850 (GRCm39) probably null Het
Lgr4 T A 2: 109,830,645 (GRCm39) F255I probably damaging Het
Lnx2 T C 5: 146,964,906 (GRCm39) N439S probably benign Het
Lztr1 G T 16: 17,336,439 (GRCm39) probably null Het
Mtcl3 G T 10: 29,024,235 (GRCm39) E384* probably null Het
Nfkb2 G T 19: 46,296,455 (GRCm39) R241L probably damaging Het
Nrcam T C 12: 44,631,755 (GRCm39) F1103L probably benign Het
Or2g1 A G 17: 38,106,367 (GRCm39) I11V probably benign Het
Or5k17 A G 16: 58,746,149 (GRCm39) S262P possibly damaging Het
Or8d2 A G 9: 38,759,631 (GRCm39) I74V possibly damaging Het
Or8g52 A G 9: 39,630,954 (GRCm39) M144V possibly damaging Het
Otof C A 5: 30,546,079 (GRCm39) A425S probably damaging Het
Parg T A 14: 31,984,777 (GRCm39) L774H probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pcnx4 T A 12: 72,603,017 (GRCm39) F426L probably benign Het
Pde5a T G 3: 122,646,225 (GRCm39) S805R probably benign Het
Pde5a T A 3: 122,646,227 (GRCm39) M806K probably damaging Het
Plekhh1 T C 12: 79,125,812 (GRCm39) S1283P probably benign Het
Ppp1r12a A G 10: 107,998,303 (GRCm39) K15E probably damaging Het
Prkdc A T 16: 15,482,108 (GRCm39) M384L probably damaging Het
Ptchd4 A G 17: 42,814,787 (GRCm39) D896G probably benign Het
Rsf1 GGC GGCTACGGCCGC 7: 97,229,113 (GRCm39) probably benign Het
Slmap T C 14: 26,254,488 (GRCm39) S65G probably benign Het
Snta1 C A 2: 154,222,722 (GRCm39) L298F probably damaging Het
Sphkap T G 1: 83,255,730 (GRCm39) N673T possibly damaging Het
St8sia5 T G 18: 77,340,807 (GRCm39) probably null Het
Tgm6 T C 2: 129,986,975 (GRCm39) V481A probably benign Het
Thada T C 17: 84,700,855 (GRCm39) N1217S possibly damaging Het
Ttn A G 2: 76,746,956 (GRCm39) Y4698H probably benign Het
Ube3c T C 5: 29,811,929 (GRCm39) Y390H possibly damaging Het
Ubqln5 A G 7: 103,778,011 (GRCm39) I271T possibly damaging Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Xkr9 A G 1: 13,754,363 (GRCm39) D119G probably benign Het
Zfp236 C T 18: 82,648,152 (GRCm39) C1003Y probably 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
R2509:Tia1 UTSW 6 86,401,312 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- GACAGTGACTACCAGCTTCTG -3'
(R):5'- GACTCTTGGATGATCTCTAAACAATGG -3'

Sequencing Primer
(F):5'- GGTAGCTATCAGTCCTTTTAGAAGAC -3'
(R):5'- AGGTTCACAGTCATAACAAA -3'
Posted On 2020-06-30