Incidental Mutation 'IGL01756:Tsnaxip1'
| ID |
153459 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsnaxip1
|
| Ensembl Gene |
ENSMUSG00000031893 |
| Gene Name |
translin-associated factor X (Tsnax) interacting protein 1 |
| Synonyms |
TXI1, 1700016K08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
IGL01756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 106569420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000040776]
[ENSMUST00000212431]
[ENSMUST00000212566]
|
| AlphaFold |
Q99P25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034365
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSNAXIP1_N
|
98 |
209 |
3.5e-33 |
PFAM |
|
coiled coil region
|
304 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040776
|
| SMART Domains |
Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-T_N
|
1 |
374 |
4.2e-174 |
PFAM |
|
Pfam:CENP-T_C
|
404 |
507 |
5.4e-36 |
PFAM |
|
Pfam:CENP-S
|
424 |
479 |
3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212803
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrnl1 |
A |
G |
19: 57,641,380 (GRCm39) |
N343D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,947,203 (GRCm39) |
V2974A |
probably benign |
Het |
| Cngb3 |
A |
C |
4: 19,367,850 (GRCm39) |
D253A |
probably damaging |
Het |
| Cog4 |
A |
T |
8: 111,580,391 (GRCm39) |
K154* |
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,706,884 (GRCm39) |
E2076D |
unknown |
Het |
| Cox7a2 |
T |
G |
9: 79,665,837 (GRCm39) |
T15P |
probably benign |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,415 (GRCm39) |
L304* |
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,123,678 (GRCm39) |
L407Q |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,227,968 (GRCm39) |
L238* |
probably null |
Het |
| Igf2r |
C |
T |
17: 12,902,709 (GRCm39) |
R2447Q |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,725,361 (GRCm39) |
K526M |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,821,436 (GRCm39) |
E66G |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,182,895 (GRCm39) |
S288P |
probably damaging |
Het |
| Rigi |
A |
T |
4: 40,209,934 (GRCm39) |
N666K |
probably damaging |
Het |
| Sar1a |
T |
A |
10: 61,522,235 (GRCm39) |
M109K |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,754,052 (GRCm39) |
T294S |
probably benign |
Het |
| Srek1 |
C |
T |
13: 103,897,090 (GRCm39) |
D84N |
probably damaging |
Het |
| Trem1 |
G |
A |
17: 48,544,141 (GRCm39) |
W55* |
probably null |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,583 (GRCm39) |
L210S |
probably benign |
Het |
|
| Other mutations in Tsnaxip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Tsnaxip1
|
APN |
8 |
106,568,055 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00490:Tsnaxip1
|
APN |
8 |
106,568,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00849:Tsnaxip1
|
APN |
8 |
106,568,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01821:Tsnaxip1
|
APN |
8 |
106,564,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02278:Tsnaxip1
|
APN |
8 |
106,554,413 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02290:Tsnaxip1
|
APN |
8 |
106,560,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02980:Tsnaxip1
|
UTSW |
8 |
106,568,842 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0239:Tsnaxip1
|
UTSW |
8 |
106,571,120 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0239:Tsnaxip1
|
UTSW |
8 |
106,571,120 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1544:Tsnaxip1
|
UTSW |
8 |
106,554,383 (GRCm39) |
start gained |
probably benign |
|
|
R1939:Tsnaxip1
|
UTSW |
8 |
106,566,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3024:Tsnaxip1
|
UTSW |
8 |
106,568,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Tsnaxip1
|
UTSW |
8 |
106,560,167 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3853:Tsnaxip1
|
UTSW |
8 |
106,567,333 (GRCm39) |
splice site |
probably benign |
|
|
R4044:Tsnaxip1
|
UTSW |
8 |
106,560,177 (GRCm39) |
splice site |
probably null |
|
|
R4376:Tsnaxip1
|
UTSW |
8 |
106,568,433 (GRCm39) |
nonsense |
probably null |
|
|
R4627:Tsnaxip1
|
UTSW |
8 |
106,568,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Tsnaxip1
|
UTSW |
8 |
106,560,155 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5806:Tsnaxip1
|
UTSW |
8 |
106,564,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5814:Tsnaxip1
|
UTSW |
8 |
106,570,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6045:Tsnaxip1
|
UTSW |
8 |
106,570,819 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6374:Tsnaxip1
|
UTSW |
8 |
106,568,172 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6406:Tsnaxip1
|
UTSW |
8 |
106,570,615 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7915:Tsnaxip1
|
UTSW |
8 |
106,569,413 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7918:Tsnaxip1
|
UTSW |
8 |
106,571,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8317:Tsnaxip1
|
UTSW |
8 |
106,554,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8377:Tsnaxip1
|
UTSW |
8 |
106,569,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8534:Tsnaxip1
|
UTSW |
8 |
106,565,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Tsnaxip1
|
UTSW |
8 |
106,570,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9102:Tsnaxip1
|
UTSW |
8 |
106,568,622 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9225:Tsnaxip1
|
UTSW |
8 |
106,566,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Tsnaxip1
|
UTSW |
8 |
106,569,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9606:Tsnaxip1
|
UTSW |
8 |
106,566,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Tsnaxip1
|
UTSW |
8 |
106,568,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-02-04 |
Incidental Mutation