Incidental Mutation 'R3695:Tsnaxip1'
ID |
268946 |
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 # |
R3695 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106560167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 40
(T40A)
|
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: T40A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034365 Gene: ENSMUSG00000031893 AA Change: T40A
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 |
possibly damaging
Transcript: ENSMUST00000212566
AA Change: T40A
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
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 |
|
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 |
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'- GTCATGCCCTATGGATTCGG -3'
(R):5'- TGAGTCTTTTCTGCCTAGAACAGC -3'
Sequencing Primer
(F):5'- CCCTATGGATTCGGGAAGGGTC -3'
(R):5'- TGGGCCCACTTTCAGATCAGTG -3'
|
Posted On |
2015-02-19 |