Incidental Mutation 'R7918:Tsnaxip1'
ID |
648189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsnaxip1
|
Ensembl Gene |
ENSMUSG00000031893 |
Gene Name |
translin-associated factor X (Tsnax) interacting protein 1 |
Synonyms |
TXI1, 1700016K08Rik |
MMRRC Submission |
045966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.532)
|
Stock # |
R7918 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106571167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 676
(I676V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000040776]
[ENSMUST00000212431]
[ENSMUST00000212566]
[ENSMUST00000212839]
|
AlphaFold |
Q99P25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034365
AA Change: I676V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000034365 Gene: ENSMUSG00000031893 AA Change: I676V
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 |
probably benign
Transcript: ENSMUST00000212431
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212566
AA Change: I598V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212839
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330070K13Rik |
G |
A |
5: 130,413,269 (GRCm39) |
T30I |
unknown |
Het |
Adam21 |
A |
G |
12: 81,607,378 (GRCm39) |
V128A |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 44,022,566 (GRCm39) |
Y308C |
probably damaging |
Het |
Adam26b |
A |
G |
8: 43,974,138 (GRCm39) |
V288A |
probably benign |
Het |
Ankrd29 |
A |
C |
18: 12,428,979 (GRCm39) |
L30R |
probably damaging |
Het |
Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,334,856 (GRCm39) |
I817T |
probably benign |
Het |
Catsperd |
T |
C |
17: 56,938,564 (GRCm39) |
F31L |
probably benign |
Het |
Cep164 |
A |
G |
9: 45,690,986 (GRCm39) |
|
probably null |
Het |
Clca4b |
T |
C |
3: 144,619,033 (GRCm39) |
Y702C |
probably damaging |
Het |
Clstn1 |
A |
G |
4: 149,728,508 (GRCm39) |
I655V |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,747,147 (GRCm39) |
E1486G |
probably damaging |
Het |
Epha8 |
A |
G |
4: 136,661,877 (GRCm39) |
F573L |
probably benign |
Het |
Exoc1 |
A |
G |
5: 76,691,840 (GRCm39) |
N323S |
probably benign |
Het |
Exoc6b |
C |
T |
6: 85,046,332 (GRCm39) |
R19Q |
probably damaging |
Het |
Gcsam |
T |
C |
16: 45,440,502 (GRCm39) |
*182R |
probably null |
Het |
Ighv9-2 |
T |
C |
12: 114,072,911 (GRCm39) |
I21V |
probably benign |
Het |
Ints2 |
G |
A |
11: 86,113,043 (GRCm39) |
T825M |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,757,454 (GRCm39) |
T398A |
probably benign |
Het |
Lrfn2 |
T |
C |
17: 49,378,212 (GRCm39) |
V431A |
probably damaging |
Het |
Mast2 |
T |
C |
4: 116,292,732 (GRCm39) |
I79M |
possibly damaging |
Het |
Nup107 |
A |
G |
10: 117,617,905 (GRCm39) |
V171A |
probably benign |
Het |
Or1e1c |
T |
C |
11: 73,265,923 (GRCm39) |
F119S |
probably damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,103 (GRCm39) |
Y35* |
probably null |
Het |
Or8g37 |
C |
A |
9: 39,731,406 (GRCm39) |
T157K |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,622,539 (GRCm39) |
K1557* |
probably null |
Het |
Plat |
C |
T |
8: 23,263,655 (GRCm39) |
P185S |
probably damaging |
Het |
Plcg1 |
T |
G |
2: 160,595,585 (GRCm39) |
V511G |
probably damaging |
Het |
Plxnb3 |
C |
T |
X: 72,811,251 (GRCm39) |
A1258V |
probably benign |
Het |
Rnf223 |
T |
C |
4: 156,217,240 (GRCm39) |
V205A |
probably benign |
Het |
Slc13a1 |
G |
C |
6: 24,118,065 (GRCm39) |
T224R |
probably benign |
Het |
Slc39a10 |
T |
A |
1: 46,874,912 (GRCm39) |
H130L |
possibly damaging |
Het |
Sucnr1 |
T |
A |
3: 59,993,790 (GRCm39) |
I106N |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,708,170 (GRCm39) |
|
probably null |
Het |
Syne1 |
T |
C |
10: 5,309,078 (GRCm39) |
I644V |
possibly damaging |
Het |
Tbc1d8 |
A |
C |
1: 39,441,809 (GRCm39) |
F261C |
probably damaging |
Het |
Tmem132e |
A |
G |
11: 82,336,116 (GRCm39) |
Y1066C |
probably damaging |
Het |
Trip12 |
A |
C |
1: 84,722,784 (GRCm39) |
I1322S |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,236 (GRCm39) |
Y226* |
probably null |
Het |
Vmn2r63 |
G |
C |
7: 42,552,955 (GRCm39) |
A767G |
probably damaging |
Het |
Wdr5b |
A |
G |
16: 35,862,192 (GRCm39) |
T104A |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,930,504 (GRCm39) |
V151A |
possibly damaging |
Het |
Zc3h7b |
T |
C |
15: 81,653,189 (GRCm39) |
F31S |
probably damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,279 (GRCm39) |
C340S |
possibly damaging |
Het |
Zmym4 |
T |
A |
4: 126,804,797 (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 |
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 |
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'- CCCTTCAGATCAGGGTACAGAG -3'
(R):5'- CCCAGCCTGGAAAGGAATAG -3'
Sequencing Primer
(F):5'- GAGAGAAGAGCTCAAACCTGCATTC -3'
(R):5'- CCTGGAAAGGAATAGGAATTAAAGAC -3'
|
Posted On |
2020-09-15 |