Incidental Mutation 'R7804:Tia1'
| ID |
600664 |
| 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 |
045859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R7804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86381201-86410387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86401364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 146
(S146P)
|
| 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 benign
Transcript: ENSMUST00000095752
AA Change: S135P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: S135P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
79 |
1.74e-23 |
SMART |
|
RRM
|
96 |
169 |
5.15e-26 |
SMART |
|
RRM
|
204 |
271 |
2.25e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095753
AA Change: S146P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: S146P
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000095754
AA Change: S146P
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: S146P
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000113712
AA Change: S146P
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: S146P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000113713
AA Change: S137P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: S137P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
79 |
1e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130967
AA Change: S135P
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: S135P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
79 |
7.3e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204137
|
| Meta Mutation Damage Score |
0.4784 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (55/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
| Cacnb2 |
C |
A |
2: 14,972,848 (GRCm39) |
P252T |
probably benign |
Het |
| Ctnna2 |
C |
T |
6: 77,618,357 (GRCm39) |
V202I |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
| Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
| Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
| Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
| Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
| Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
| Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
| Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
| Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
| Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
| Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
| Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,962,308 (GRCm39) |
R60S |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
| Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
| Tbc1d9 |
T |
C |
8: 83,963,341 (GRCm39) |
L351P |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
| Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
| Ttll9 |
G |
A |
2: 152,844,278 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
probably damaging |
Het |
|
| Other mutations in Tia1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
PCR Primer
(F):5'- GGAACATCTGCTTTCACCATGC -3'
(R):5'- GGTGCTAAATGACTAAAGAACCAAC -3'
Sequencing Primer
(F):5'- CTGCTTTCACCATGCTTAATATTGAG -3'
(R):5'- CCAGAATAGAACAGGCTGTTTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation