Incidental Mutation 'R4130:Pramel29'
| ID |
315502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel29
|
| Ensembl Gene |
ENSMUSG00000046262 |
| Gene Name |
PRAME like 29 |
| Synonyms |
C87977 |
| MMRRC Submission |
041636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143933332-143939587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143935379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 121
(I121F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105753]
[ENSMUST00000105754]
[ENSMUST00000105755]
[ENSMUST00000105757]
[ENSMUST00000146836]
[ENSMUST00000147855]
|
| AlphaFold |
A2A958 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105753
AA Change: I121F
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105754
AA Change: I121F
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105755
|
| SMART Domains |
Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
52 |
250 |
9e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105757
AA Change: I121F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: I121F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
420 |
1e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132946
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146836
AA Change: I49F
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147855
AA Change: I123F
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
| Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
| Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
| F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
| Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
| Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
| Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
| Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pramel29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Pramel29
|
APN |
4 |
143,935,045 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02950:Pramel29
|
APN |
4 |
143,939,531 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03174:Pramel29
|
APN |
4 |
143,935,000 (GRCm39) |
missense |
probably benign |
|
|
IGL03178:Pramel29
|
APN |
4 |
143,934,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4812001:Pramel29
|
UTSW |
4 |
143,936,086 (GRCm39) |
missense |
probably benign |
|
|
R0622:Pramel29
|
UTSW |
4 |
143,939,583 (GRCm39) |
unclassified |
probably benign |
|
|
R0634:Pramel29
|
UTSW |
4 |
143,935,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1127:Pramel29
|
UTSW |
4 |
143,933,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Pramel29
|
UTSW |
4 |
143,934,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Pramel29
|
UTSW |
4 |
143,935,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Pramel29
|
UTSW |
4 |
143,936,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1857:Pramel29
|
UTSW |
4 |
143,935,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2859:Pramel29
|
UTSW |
4 |
143,936,192 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4063:Pramel29
|
UTSW |
4 |
143,935,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4114:Pramel29
|
UTSW |
4 |
143,936,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4255:Pramel29
|
UTSW |
4 |
143,934,054 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4704:Pramel29
|
UTSW |
4 |
143,935,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Pramel29
|
UTSW |
4 |
143,935,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5267:Pramel29
|
UTSW |
4 |
143,939,575 (GRCm39) |
unclassified |
probably benign |
|
|
R5670:Pramel29
|
UTSW |
4 |
143,936,192 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6149:Pramel29
|
UTSW |
4 |
143,933,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6508:Pramel29
|
UTSW |
4 |
143,934,171 (GRCm39) |
nonsense |
probably null |
|
|
R6528:Pramel29
|
UTSW |
4 |
143,935,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7252:Pramel29
|
UTSW |
4 |
143,939,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7564:Pramel29
|
UTSW |
4 |
143,939,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7704:Pramel29
|
UTSW |
4 |
143,935,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8737:Pramel29
|
UTSW |
4 |
143,935,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Pramel29
|
UTSW |
4 |
143,939,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Pramel29
|
UTSW |
4 |
143,934,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGCAGCAAGTATGTGGTAG -3'
(R):5'- GGCTAAAGATGCCCTCTTGC -3'
Sequencing Primer
(F):5'- GCAGCAAGTATGTGGTAGATTCATC -3'
(R):5'- GATGCCCTCTTGCAAAGAATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation