Incidental Mutation 'R5814:Tsnaxip1'
| ID |
447687 |
| 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 |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.611)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106554363-106571312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106570603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 574
(D574G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034365]
[ENSMUST00000040776]
[ENSMUST00000212431]
[ENSMUST00000212566]
|
| AlphaFold |
Q99P25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034365
AA Change: D574G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: D574G
| 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: ENSMUST00000212204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212625
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
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 |
|
|
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 |
|
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'- GATCATTATGAGTTCAAGGACTCTC -3'
(R):5'- TGCACAAATGGCTCACTCTG -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- GCCCTTCCTCATCCTGTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation