Incidental Mutation 'R9162:Tial1'
| ID |
695784 |
| 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 |
068943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R9162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128041501-128063441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128050415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033135]
[ENSMUST00000106226]
[ENSMUST00000106228]
[ENSMUST00000123666]
[ENSMUST00000133444]
[ENSMUST00000141126]
[ENSMUST00000165023]
[ENSMUST00000205278]
[ENSMUST00000205835]
|
| AlphaFold |
P70318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033135
AA Change: V53A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V70A
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: V70A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably damaging
Transcript: ENSMUST00000106228
AA Change: V14A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: V14A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
11 |
50 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123666
AA Change: V53A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116921
Gene: ENSMUSG00000030846
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
81 |
3.2e-22 |
SMART |
|
Pfam:RRM_1
|
99 |
132 |
1.3e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141126
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165023
AA Change: V53A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000205278
AA Change: V58A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205835
|
| Meta Mutation Damage Score |
0.8316 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
| Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
| Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
| Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
| Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
| Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
| Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
| Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
| Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
| Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
| Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
| Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
| Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
probably benign |
Het |
|
| Other mutations in Tial1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R5629:Tial1
|
UTSW |
7 |
128,046,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TAGGCTGAATAGAGACCACTCAG -3'
(R):5'- GTATGGCTCTGCTGGAATACAAC -3'
Sequencing Primer
(F):5'- GCTGAATAGAGACCACTCAGTAGCC -3'
(R):5'- ACAGTATTCTGAGGCTCAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation