Incidental Mutation 'IGL02290:Tsnaxip1'
| ID |
290058 |
| 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 # |
IGL02290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106560119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 24
(P24T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000212566]
|
| AlphaFold |
Q99P25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034365
AA Change: P24T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: P24T
| 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 |
noncoding transcript
Transcript: ENSMUST00000211949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212566
AA Change: P24T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,344 (GRCm39) |
P128S |
probably damaging |
Het |
| Abca9 |
A |
G |
11: 110,026,177 (GRCm39) |
V961A |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,051,821 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,313,460 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,144,163 (GRCm39) |
D617G |
probably damaging |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Faxc |
T |
A |
4: 21,993,390 (GRCm39) |
S345T |
possibly damaging |
Het |
| Ganc |
C |
T |
2: 120,278,904 (GRCm39) |
T707I |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,918,679 (GRCm39) |
V55A |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,893,360 (GRCm39) |
I156F |
probably benign |
Het |
| Mtrf1 |
G |
T |
14: 79,639,251 (GRCm39) |
E128* |
probably null |
Het |
| Ndc1 |
T |
C |
4: 107,252,192 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,689,078 (GRCm39) |
N537K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,695 (GRCm39) |
I208V |
probably benign |
Het |
| Or4p23 |
T |
C |
2: 88,576,729 (GRCm39) |
T168A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,603,508 (GRCm39) |
I1053T |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,705,741 (GRCm39) |
L643Q |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,887,082 (GRCm39) |
E231G |
probably damaging |
Het |
| Vmn2r124 |
T |
G |
17: 18,293,597 (GRCm39) |
H561Q |
probably benign |
Het |
| Zbtb12 |
G |
A |
17: 35,114,448 (GRCm39) |
A78T |
probably damaging |
Het |
| Zp3r |
C |
T |
1: 130,547,102 (GRCm39) |
V25I |
possibly damaging |
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 |
|
IGL01756:Tsnaxip1
|
APN |
8 |
106,569,420 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation