Incidental Mutation 'IGL02980:Tsnaxip1'
| ID |
392140 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02980 (G1)
|
| Quality Score |
88 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106568842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 444
(V444L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000040776]
[ENSMUST00000212431]
[ENSMUST00000212566]
|
| AlphaFold |
Q99P25 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034365
AA Change: V444L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: V444L
| 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 damaging
Transcript: ENSMUST00000212566
AA Change: V444L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212803
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
|
|
IGL02290:Tsnaxip1
|
APN |
8 |
106,560,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATCTAAGATTCTGGGG -3'
(R):5'- AAAGCGACGCTCCAGAAAATTG -3'
Sequencing Primer
(F):5'- GGGAACTGTCTAGAGCACATTCC -3'
(R):5'- GAAATCTGGAAATGGCTCCTTCTGC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation