Incidental Mutation 'R4319:Tspo2'
| ID |
324147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspo2
|
| Ensembl Gene |
ENSMUSG00000023995 |
| Gene Name |
translocator protein 2 |
| Synonyms |
Bzrpl1, 2510027D20Rik |
| MMRRC Submission |
041660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4319 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48754935-48758550 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 48756871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024794]
[ENSMUST00000159988]
[ENSMUST00000162481]
|
| AlphaFold |
Q9CRZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024794
|
| SMART Domains |
Protein: ENSMUSP00000024794
Gene: ENSMUSG00000023995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TspO_MBR
|
7 |
153 |
2.7e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159988
|
| SMART Domains |
Protein: ENSMUSP00000124843
Gene: ENSMUSG00000023995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TspO_MBR
|
7 |
126 |
3.5e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162481
|
| SMART Domains |
Protein: ENSMUSP00000124308
Gene: ENSMUSG00000023995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TspO_MBR
|
6 |
66 |
3.1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cacna1c |
A |
C |
6: 118,631,330 (GRCm39) |
I1148S |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,374,909 (GRCm39) |
H1385P |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,555,798 (GRCm39) |
H545R |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,488,598 (GRCm39) |
I655V |
probably damaging |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,033 (GRCm39) |
V84A |
probably damaging |
Het |
| Klf2 |
A |
G |
8: 73,074,005 (GRCm39) |
T270A |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,420,651 (GRCm39) |
M254T |
possibly damaging |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,946 (GRCm39) |
E71G |
probably damaging |
Het |
| Mcoln2 |
G |
A |
3: 145,855,766 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pygb |
G |
T |
2: 150,657,534 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,647,883 (GRCm39) |
S349G |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,358,578 (GRCm39) |
V657D |
probably damaging |
Het |
| Ufsp2 |
A |
G |
8: 46,448,664 (GRCm39) |
T422A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,159,718 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Tspo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02131:Tspo2
|
APN |
17 |
48,756,089 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02991:Tspo2
|
UTSW |
17 |
48,757,014 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0551:Tspo2
|
UTSW |
17 |
48,755,841 (GRCm39) |
splice site |
probably benign |
|
|
R1843:Tspo2
|
UTSW |
17 |
48,755,818 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1844:Tspo2
|
UTSW |
17 |
48,756,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Tspo2
|
UTSW |
17 |
48,755,750 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4867:Tspo2
|
UTSW |
17 |
48,755,705 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5327:Tspo2
|
UTSW |
17 |
48,756,887 (GRCm39) |
intron |
probably benign |
|
|
R5380:Tspo2
|
UTSW |
17 |
48,755,780 (GRCm39) |
missense |
probably benign |
|
|
R5790:Tspo2
|
UTSW |
17 |
48,756,047 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7819:Tspo2
|
UTSW |
17 |
48,756,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0053:Tspo2
|
UTSW |
17 |
48,757,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATAAGTCGGGAGAGCTTGTG -3'
(R):5'- TGCCTTTCTGGAGAATGCAG -3'
Sequencing Primer
(F):5'- TCGGGAGAGCTTGTGGGAAG -3'
(R):5'- CCTTTCTGGAGAATGCAGCTTCAAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation