Incidental Mutation 'R5626:Trp53i11'
| ID |
441827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53i11
|
| Ensembl Gene |
ENSMUSG00000068735 |
| Gene Name |
transformation related protein 53 inducible protein 11 |
| Synonyms |
Tp53i11 |
| MMRRC Submission |
043165-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
93017893-93032104 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93029723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 119
(N119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028646]
[ENSMUST00000090554]
[ENSMUST00000111265]
[ENSMUST00000111266]
[ENSMUST00000150462]
|
| AlphaFold |
Q4QQM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028646
|
| SMART Domains |
Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
8 |
247 |
1.8e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090554
AA Change: N119S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088042
Gene: ENSMUSG00000068735
AA Change: N119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p53-inducible11
|
10 |
188 |
8.5e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111265
|
| SMART Domains |
Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
8 |
247 |
3.3e-50 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111266
AA Change: N119S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106897
Gene: ENSMUSG00000068735
AA Change: N119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p53-inducible11
|
10 |
188 |
2.1e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150462
|
| SMART Domains |
Protein: ENSMUSP00000115918
Gene: ENSMUSG00000068735
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p53-inducible11
|
10 |
87 |
1.5e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
C |
3: 137,986,171 (GRCm39) |
V53L |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,737 (GRCm39) |
Q514* |
probably null |
Het |
| Calhm2 |
A |
C |
19: 47,121,558 (GRCm39) |
C204G |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,478,897 (GRCm39) |
N119D |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,471,980 (GRCm39) |
L133P |
probably damaging |
Het |
| Clcn4 |
A |
T |
7: 7,292,017 (GRCm39) |
V598E |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,003 (GRCm39) |
H122R |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,575 (GRCm39) |
T2697A |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,564 (GRCm39) |
I117F |
probably damaging |
Het |
| Egflam |
A |
G |
15: 7,280,688 (GRCm39) |
S446P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,036,604 (GRCm39) |
I1922V |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,784,841 (GRCm39) |
|
probably null |
Het |
| Gphn |
A |
C |
12: 78,730,671 (GRCm39) |
I769L |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,053,929 (GRCm39) |
|
probably null |
Het |
| Hira |
G |
T |
16: 18,746,262 (GRCm39) |
Q468H |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,532,318 (GRCm39) |
G3154E |
probably damaging |
Het |
| Ighv16-1 |
G |
A |
12: 114,032,472 (GRCm39) |
T92M |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,943 (GRCm39) |
E380G |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,419 (GRCm39) |
F380L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Ncbp1 |
G |
A |
4: 46,161,290 (GRCm39) |
S422N |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,661 (GRCm39) |
T26S |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,158 (GRCm39) |
I51V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,643 (GRCm39) |
S1041G |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,629 (GRCm39) |
D37G |
probably benign |
Het |
| Prkca |
T |
C |
11: 107,948,641 (GRCm39) |
D116G |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,516 (GRCm39) |
D367E |
probably benign |
Het |
| Rbm26 |
T |
C |
14: 105,381,667 (GRCm39) |
T493A |
probably benign |
Het |
| Saxo1 |
T |
C |
4: 86,363,826 (GRCm39) |
E219G |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,460,849 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,096,506 (GRCm39) |
N205S |
possibly damaging |
Het |
| Wnt3a |
A |
T |
11: 59,181,409 (GRCm39) |
I22N |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,580,040 (GRCm39) |
Y148H |
probably benign |
Het |
|
| Other mutations in Trp53i11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0011:Trp53i11
|
UTSW |
2 |
93,029,698 (GRCm39) |
unclassified |
probably benign |
|
|
R0011:Trp53i11
|
UTSW |
2 |
93,029,698 (GRCm39) |
unclassified |
probably benign |
|
|
R0137:Trp53i11
|
UTSW |
2 |
93,029,696 (GRCm39) |
unclassified |
probably benign |
|
|
R0148:Trp53i11
|
UTSW |
2 |
93,028,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0759:Trp53i11
|
UTSW |
2 |
93,029,303 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4700:Trp53i11
|
UTSW |
2 |
93,030,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Trp53i11
|
UTSW |
2 |
93,030,200 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5466:Trp53i11
|
UTSW |
2 |
93,029,728 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6709:Trp53i11
|
UTSW |
2 |
93,030,163 (GRCm39) |
missense |
probably benign |
|
|
R7889:Trp53i11
|
UTSW |
2 |
93,029,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Trp53i11
|
UTSW |
2 |
93,029,273 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGAAGCAATGTGAGCTGTCTC -3'
(R):5'- AAGTGCATCCTGAGTGTCAG -3'
Sequencing Primer
(F):5'- CAATGTGAGCTGTCTCTGGGG -3'
(R):5'- GGCTGTGGATTCAGGACAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation