Incidental Mutation 'IGL01821:Tsnaxip1'
| ID |
154554 |
| 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 # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106564148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 116
(Q116L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000212566]
|
| AlphaFold |
Q99P25 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034365
AA Change: Q116L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: Q116L
| 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 damaging
Transcript: ENSMUST00000212566
AA Change: Q116L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably 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 |
|
|
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