Incidental Mutation 'R4044:Pramel26'
ID |
313977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel26
|
Ensembl Gene |
ENSMUSG00000059218 |
Gene Name |
PRAME like 26 |
Synonyms |
Gm13084 |
MMRRC Submission |
040967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R4044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143535817-143542663 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143538170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 267
(N267I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075045]
[ENSMUST00000105769]
|
AlphaFold |
A2A8N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075045
AA Change: N267I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000074557 Gene: ENSMUSG00000059218 AA Change: N267I
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
409 |
9e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105769
AA Change: N267I
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101395 Gene: ENSMUSG00000059218 AA Change: N267I
Domain | Start | End | E-Value | Type |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137635
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
probably damaging |
Het |
|
Other mutations in Pramel26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Pramel26
|
APN |
4 |
143,539,293 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01075:Pramel26
|
APN |
4 |
143,538,216 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02705:Pramel26
|
APN |
4 |
143,537,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Pramel26
|
APN |
4 |
143,538,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4498001:Pramel26
|
UTSW |
4 |
143,539,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0268:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Pramel26
|
UTSW |
4 |
143,537,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.09 |
R0597:Pramel26
|
UTSW |
4 |
143,539,222 (GRCm39) |
missense |
probably damaging |
0.98 |
R0646:Pramel26
|
UTSW |
4 |
143,539,155 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0927:Pramel26
|
UTSW |
4 |
143,539,378 (GRCm39) |
missense |
probably benign |
0.05 |
R0973:Pramel26
|
UTSW |
4 |
143,538,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
R1852:Pramel26
|
UTSW |
4 |
143,539,396 (GRCm39) |
missense |
probably benign |
0.33 |
R3699:Pramel26
|
UTSW |
4 |
143,536,922 (GRCm39) |
missense |
probably benign |
0.05 |
R3705:Pramel26
|
UTSW |
4 |
143,538,345 (GRCm39) |
missense |
probably benign |
0.06 |
R3845:Pramel26
|
UTSW |
4 |
143,538,545 (GRCm39) |
missense |
probably damaging |
0.96 |
R4035:Pramel26
|
UTSW |
4 |
143,537,026 (GRCm39) |
missense |
probably benign |
0.08 |
R4439:Pramel26
|
UTSW |
4 |
143,538,143 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4660:Pramel26
|
UTSW |
4 |
143,538,435 (GRCm39) |
missense |
probably benign |
0.19 |
R4770:Pramel26
|
UTSW |
4 |
143,538,519 (GRCm39) |
missense |
probably damaging |
0.96 |
R4838:Pramel26
|
UTSW |
4 |
143,537,375 (GRCm39) |
nonsense |
probably null |
|
R5534:Pramel26
|
UTSW |
4 |
143,539,169 (GRCm39) |
nonsense |
probably null |
|
R5691:Pramel26
|
UTSW |
4 |
143,538,579 (GRCm39) |
missense |
probably benign |
0.44 |
R5893:Pramel26
|
UTSW |
4 |
143,537,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Pramel26
|
UTSW |
4 |
143,539,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6285:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Pramel26
|
UTSW |
4 |
143,539,332 (GRCm39) |
missense |
probably benign |
0.29 |
R7105:Pramel26
|
UTSW |
4 |
143,537,341 (GRCm39) |
missense |
probably benign |
0.04 |
R7135:Pramel26
|
UTSW |
4 |
143,537,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R7474:Pramel26
|
UTSW |
4 |
143,538,269 (GRCm39) |
missense |
probably benign |
0.03 |
R7594:Pramel26
|
UTSW |
4 |
143,539,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R7610:Pramel26
|
UTSW |
4 |
143,539,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Pramel26
|
UTSW |
4 |
143,536,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Pramel26
|
UTSW |
4 |
143,537,290 (GRCm39) |
missense |
probably benign |
0.38 |
R7986:Pramel26
|
UTSW |
4 |
143,538,590 (GRCm39) |
nonsense |
probably null |
|
R8222:Pramel26
|
UTSW |
4 |
143,536,893 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8328:Pramel26
|
UTSW |
4 |
143,537,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R8678:Pramel26
|
UTSW |
4 |
143,538,576 (GRCm39) |
missense |
probably benign |
0.21 |
R8887:Pramel26
|
UTSW |
4 |
143,539,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R8942:Pramel26
|
UTSW |
4 |
143,536,861 (GRCm39) |
missense |
probably benign |
0.00 |
R9219:Pramel26
|
UTSW |
4 |
143,537,303 (GRCm39) |
missense |
probably benign |
0.02 |
R9291:Pramel26
|
UTSW |
4 |
143,539,251 (GRCm39) |
missense |
probably benign |
0.13 |
R9649:Pramel26
|
UTSW |
4 |
143,542,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Pramel26
|
UTSW |
4 |
143,536,886 (GRCm39) |
missense |
probably benign |
0.24 |
Z1177:Pramel26
|
UTSW |
4 |
143,538,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAGGTTTATGGTGACCAGAC -3'
(R):5'- CAAAGCCACAGTCATAGAAATGTTC -3'
Sequencing Primer
(F):5'- GTGACCAGACCATCGTGGACTAC -3'
(R):5'- AGAAATGTTCAAAATTGTACATGCAG -3'
|
Posted On |
2015-04-30 |