Incidental Mutation 'R7879:Tia1'
ID 608635
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 045931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R7879 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86381201-86410387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86401347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 140 (D140G)
Ref Sequence ENSEMBL: ENSMUSP00000093425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095752] [ENSMUST00000095753] [ENSMUST00000095754] [ENSMUST00000113712] [ENSMUST00000113713] [ENSMUST00000123267] [ENSMUST00000130967] [ENSMUST00000148728] [ENSMUST00000154438] [ENSMUST00000204137]
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: D129G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: D129G

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: D140G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: D140G

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: D140G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: D140G

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: D140G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: D140G

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 damaging
Transcript: ENSMUST00000113713
AA Change: D131G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: D131G

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 benign
Transcript: ENSMUST00000123267
SMART Domains Protein: ENSMUSP00000145407
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 12 79 1e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130967
AA Change: D129G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: D129G

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 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 probably benign
Transcript: ENSMUST00000154438
SMART Domains Protein: ENSMUSP00000145218
Gene: ENSMUSG00000071337

DomainStartEndE-ValueType
RRM 8 79 7.3e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204137
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,439,662 (GRCm39) I81T probably benign Het
Acnat2 G A 4: 49,383,299 (GRCm39) P85S probably damaging Het
Akr1c19 G A 13: 4,286,223 (GRCm39) V74M probably damaging Het
Alb C A 5: 90,620,507 (GRCm39) T539K probably benign Het
B4galnt2 G A 11: 95,760,223 (GRCm39) T268I possibly damaging Het
Bcl7b G A 5: 135,205,986 (GRCm39) E58K possibly damaging Het
Calr3 C T 8: 73,178,487 (GRCm39) S372N unknown Het
Cdcp3 T A 7: 130,844,871 (GRCm39) V588E probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Cdh20 A C 1: 109,976,677 (GRCm39) E114A probably benign Het
Cep70 A G 9: 99,144,686 (GRCm39) R74G possibly damaging Het
Chrna6 A G 8: 27,897,109 (GRCm39) F256S probably damaging Het
Cic A G 7: 24,984,551 (GRCm39) T996A probably benign Het
Clstn2 A G 9: 97,351,817 (GRCm39) V536A possibly damaging Het
Csmd1 A T 8: 16,441,820 (GRCm39) M348K probably benign Het
Dnah11 A C 12: 118,004,744 (GRCm39) D2192E probably damaging Het
Dnhd1 A G 7: 105,352,646 (GRCm39) I2600V probably benign Het
Dock3 A C 9: 106,785,700 (GRCm39) S185A probably benign Het
Dock4 A T 12: 40,780,083 (GRCm39) D628V possibly damaging Het
Dzank1 A T 2: 144,333,718 (GRCm39) S371T probably benign Het
Fam83b A T 9: 76,399,737 (GRCm39) N455K possibly damaging Het
Fcrlb T C 1: 170,736,365 (GRCm39) Y137C probably damaging Het
Gtf2i G A 5: 134,295,471 (GRCm39) T327M possibly damaging Het
Hspa5 T A 2: 34,665,941 (GRCm39) M595K probably benign Het
Htt C T 5: 34,981,252 (GRCm39) A875V probably benign Het
Hvcn1 G A 5: 122,376,701 (GRCm39) probably null Het
Igsf10 A G 3: 59,238,145 (GRCm39) S679P probably damaging Het
Itsn2 A G 12: 4,751,265 (GRCm39) H1285R probably benign Het
Kcnq4 T C 4: 120,559,632 (GRCm39) T523A probably benign Het
Kif6 T A 17: 50,139,214 (GRCm39) I562N probably benign Het
Klhl9 C A 4: 88,638,575 (GRCm39) W555C probably damaging Het
Krt78 T C 15: 101,856,624 (GRCm39) T423A probably benign Het
Mapk10 C T 5: 103,111,362 (GRCm39) V391I probably benign Het
Noa1 T C 5: 77,445,044 (GRCm39) M592V probably benign Het
Npy5r A G 8: 67,133,968 (GRCm39) M275T possibly damaging Het
Nuak2 T A 1: 132,259,695 (GRCm39) V499E probably benign Het
Or4x6 A T 2: 89,949,185 (GRCm39) C252* probably null Het
Or6c213 T C 10: 129,574,559 (GRCm39) I76V probably benign Het
Otogl T C 10: 107,612,970 (GRCm39) E2052G probably benign Het
Pard3b T A 1: 62,198,670 (GRCm39) C253S possibly damaging Het
Pclo T C 5: 14,727,228 (GRCm39) S2029P unknown Het
Plekhg3 A G 12: 76,612,343 (GRCm39) I401M probably damaging Het
Polg A T 7: 79,100,392 (GRCm39) C1140S probably benign Het
Prl7c1 A T 13: 27,962,817 (GRCm39) L62H probably damaging Het
Psmf1 T A 2: 151,576,163 (GRCm39) E115V probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Pzp A G 6: 128,465,979 (GRCm39) S1234P probably benign Het
Qrich1 A G 9: 108,436,485 (GRCm39) T728A possibly damaging Het
Ralgps2 C A 1: 156,656,636 (GRCm39) A323S probably benign Het
Rimbp3 T C 16: 17,028,910 (GRCm39) V778A possibly damaging Het
Scn1a A T 2: 66,116,349 (GRCm39) L430* probably null Het
Sema7a A T 9: 57,862,363 (GRCm39) I189F probably damaging Het
Slc22a8 T C 19: 8,571,386 (GRCm39) I39T probably benign Het
Stap2 T C 17: 56,309,023 (GRCm39) T115A probably benign Het
Stmn4 A G 14: 66,595,388 (GRCm39) I138V probably benign Het
Suds3 C T 5: 117,236,335 (GRCm39) probably null Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tet1 A C 10: 62,714,825 (GRCm39) D323E probably benign Het
Trio C T 15: 27,852,010 (GRCm39) R827H possibly damaging Het
Ttn A G 2: 76,625,397 (GRCm39) probably null Het
Unc80 T C 1: 66,549,866 (GRCm39) V708A probably benign Het
Vmn1r194 A T 13: 22,428,772 (GRCm39) T130S probably benign Het
Wfikkn2 A G 11: 94,129,755 (GRCm39) C129R probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P 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
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 PCR Primer
(F):5'- AGGAACATCTGCTTTCACCATG -3'
(R):5'- AACAGGCTGTTTTCTAGTGAAGGTG -3'

Sequencing Primer
(F):5'- CTGCTTTCACCATGCTTAATATTGAG -3'
(R):5'- GGTGCTTACTCTTAGTGAACTGAAC -3'
Posted On 2019-12-20