Incidental Mutation 'V7582:Tprkb'
| ID |
152603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tprkb
|
| Ensembl Gene |
ENSMUSG00000054226 |
| Gene Name |
Tp53rk binding protein |
| Synonyms |
0610033G21Rik, 1810034M08Rik, DRWMS1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
V7582 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
85888847-85907266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85905764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 150
(K150E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067137]
[ENSMUST00000089570]
[ENSMUST00000113751]
[ENSMUST00000113752]
[ENSMUST00000113753]
[ENSMUST00000149026]
[ENSMUST00000200680]
[ENSMUST00000201939]
[ENSMUST00000202803]
|
| AlphaFold |
Q8QZZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067137
AA Change: K150E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063927
Gene: ENSMUSG00000054226
AA Change: K150E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
172 |
1.2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089570
|
| SMART Domains |
Protein: ENSMUSP00000086998
Gene: ENSMUSG00000054226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
150 |
8.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113751
|
| SMART Domains |
Protein: ENSMUSP00000109380
Gene: ENSMUSG00000054226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
91 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113752
AA Change: K150E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109381
Gene: ENSMUSG00000054226
AA Change: K150E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
172 |
1.3e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113753
AA Change: K150E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109382
Gene: ENSMUSG00000054226
AA Change: K150E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
172 |
1.2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149026
|
| SMART Domains |
Protein: ENSMUSP00000117259
Gene: ENSMUSG00000054226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
132 |
1.4e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150249
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200680
AA Change: K150E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144160
Gene: ENSMUSG00000054226
AA Change: K150E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
172 |
1.3e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162660
|
| SMART Domains |
Protein: ENSMUSP00000124315
Gene: ENSMUSG00000089634
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
66 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
84 |
203 |
4.6e-11 |
PFAM |
|
Pfam:Acetyltransf_4
|
87 |
214 |
2.8e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
115 |
205 |
1.7e-12 |
PFAM |
|
Pfam:Acetyltransf_1
|
122 |
204 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201939
|
| SMART Domains |
Protein: ENSMUSP00000144588
Gene: ENSMUSG00000054226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
110 |
9.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202803
|
| SMART Domains |
Protein: ENSMUSP00000144660
Gene: ENSMUSG00000054226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CGI-121
|
20 |
149 |
1.6e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.5269 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Ahcy |
G |
A |
2: 154,906,841 (GRCm39) |
R151* |
probably null |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Fbrsl1 |
C |
T |
5: 110,527,292 (GRCm39) |
A129T |
possibly damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
| Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,929,757 (GRCm39) |
V65M |
probably damaging |
Het |
| Myrfl |
T |
C |
10: 116,697,435 (GRCm39) |
T30A |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
| Rundc3b |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
5: 8,672,549 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,249,110 (GRCm39) |
Y253N |
probably benign |
Het |
| Tiam1 |
C |
T |
16: 89,662,159 (GRCm39) |
R653H |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
|
| Other mutations in Tprkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02133:Tprkb
|
APN |
6 |
85,904,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02981:Tprkb
|
APN |
6 |
85,904,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03102:Tprkb
|
APN |
6 |
85,901,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
F5770:Tprkb
|
UTSW |
6 |
85,905,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0491:Tprkb
|
UTSW |
6 |
85,901,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1456:Tprkb
|
UTSW |
6 |
85,901,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2007:Tprkb
|
UTSW |
6 |
85,910,030 (GRCm39) |
unclassified |
probably benign |
|
|
R2088:Tprkb
|
UTSW |
6 |
85,909,922 (GRCm39) |
unclassified |
probably benign |
|
|
R3960:Tprkb
|
UTSW |
6 |
85,905,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6153:Tprkb
|
UTSW |
6 |
85,893,172 (GRCm39) |
splice site |
probably null |
|
|
R7584:Tprkb
|
UTSW |
6 |
85,905,809 (GRCm39) |
missense |
probably benign |
|
|
V7581:Tprkb
|
UTSW |
6 |
85,905,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V7583:Tprkb
|
UTSW |
6 |
85,905,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0064:Tprkb
|
UTSW |
6 |
85,905,784 (GRCm39) |
missense |
probably benign |
|
|
X0064:Tprkb
|
UTSW |
6 |
85,905,782 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
|
| Posted On |
2014-01-29 |
Incidental Mutation